Neonatology Flashcards
(470 cards)
1
Q
What is the most likely diagnosis for a preterm neonate presenting with respiratory distress, cyanosis, and grunting shortly after birth?
A
Neonatal Respiratory Distress Syndrome (NRDS) – caused by surfactant deficiency, leading to alveolar collapse, decreased lung compliance, and hypoxemia.
2
Q
What are the common differential diagnoses for neonatal respiratory distress?
A
Transient Tachypnea of the Newborn (TTN), Neonatal Pneumonia, Meconium Aspiration Syndrome (MAS), Persistent Pulmonary Hypertension of the Newborn (PPHN).
3
Q
What is the primary pathophysiological defect in NRDS?
A
Insufficient surfactant production by type II pneumocytes, resulting in increased alveolar surface tension, atelectasis, decreased lung compliance, and hypoxemia.
4
Q
What are the classic chest X-ray findings in NRDS?
A
Ground-glass opacities, air bronchograms, and low lung volumes, reflecting widespread atelectasis and surfactant deficiency.
5
Q
What maternal factors increase the risk of NRDS?
A
Premature birth (<34 weeks), Maternal diabetes (delays surfactant production), C-section without labor (reduced fetal lung fluid clearance).
6
Q
What neonatal factors increase the risk of developing NRDS?
A
Prematurity, Male gender, Perinatal asphyxia, Multiple gestation (e.g., twins).
7
Q
How does NRDS present clinically in neonates?
A
Rapid onset of respiratory distress shortly after birth, including tachypnea, grunting, nasal flaring, chest wall retractions, and cyanosis.
8
Q
What are the initial management steps for NRDS?
A
Oxygen therapy, CPAP or mechanical ventilation, Early surfactant replacement therapy, Supportive care (temperature control, fluid management).
9
Q
How is the severity of NRDS assessed?
A
Using clinical signs (e.g., Silverman-Anderson score), arterial blood gases (hypoxemia, respiratory acidosis), and chest X-ray findings.
10
Q
What preventive strategies reduce the risk of NRDS?
A
Antenatal corticosteroids (betamethasone) for mothers at risk of preterm delivery, Delayed cord clamping to enhance neonatal blood volume.
11
Q
What is the role of antenatal corticosteroids in preventing NRDS?
A
They accelerate fetal lung maturation and surfactant production, significantly reducing NRDS incidence and severity.
12
Q
What complications are associated with severe NRDS?
A
Pneumothorax, Bronchopulmonary dysplasia (BPD), Intraventricular hemorrhage (IVH), Persistent pulmonary hypertension.
13
Q
What is the prognosis for neonates with NRDS?
A
Good with early diagnosis and treatment, but risk of chronic lung disease (BPD) and neurodevelopmental delay in severe cases.
14
Q
How is surfactant therapy administered in NRDS?
A
Endotracheal intubation followed by direct tracheal instillation of exogenous surfactant, often within the first few hours of life.
15
Q
What are the key indications for surfactant replacement therapy in NRDS?
A
Preterm infants <34 weeks with significant respiratory distress, Severe RDS on chest X-ray, FiO₂ >0.4 to maintain SpO₂ >90%.
16
Q
What role does continuous positive airway pressure (CPAP) play in NRDS management?
A
Prevents alveolar collapse, reduces work of breathing, and stabilizes lung volumes, often reducing the need for mechanical ventilation.
17
Q
What is the role of mechanical ventilation in NRDS?
A
Reserved for severe cases not responding to CPAP, aiming to optimize oxygenation and ventilation while minimizing lung injury.
18
Q
How can pulmonary complications of NRDS be minimized?
A
Use of gentle ventilation strategies (low tidal volume, permissive hypercapnia), Early surfactant replacement, Avoiding high oxygen concentrations.
19
Q
What are the long-term outcomes for infants with NRDS?
A
Possible chronic lung disease (BPD), Increased risk of respiratory infections in early childhood, Potential neurodevelopmental delays.
20
Q
What factors predict poor outcomes in NRDS?
A
Severe prematurity (<28 weeks), Severe initial respiratory distress, Delayed surfactant therapy, Complications like pneumothorax or BPD.
21
Q
What is the most likely diagnosis for a neonate presenting with respiratory distress, temperature instability, poor feeding, and lethargy within the first 24 hours?
A
Early-Onset Neonatal Sepsis (EONS) – caused by vertical transmission of maternal pathogens.
22
Q
What are the key risk factors for Early-Onset Neonatal Sepsis (EONS)?
A
PROM >18 hours, maternal chorioamnionitis, preterm birth (<37 weeks), maternal GBS colonization.
23
Q
What is the primary pathophysiology of EONS?
A
Immature immune system with poor neutrophil function and complement deficiency, leading to increased susceptibility to bacterial infection.
24
Q
What are the most common pathogens causing EONS?
A
Group B Streptococcus (GBS), E. coli, Listeria monocytogenes.
25
What are the common pathogens in Late-Onset Neonatal Sepsis (LONS)?
Staphylococcus epidermidis (CoNS), Klebsiella, Pseudomonas, Candida.
26
How is Early-Onset Neonatal Sepsis (EONS) transmitted?
Vertical transmission from maternal vaginal flora during labor or membrane rupture.
27
How is Late-Onset Neonatal Sepsis (LONS) transmitted?
Nosocomial transmission (contaminated hands, catheters, ventilators).
28
What are the key clinical differences between EONS and LONS?
EONS: <72 hours, vertical transmission, rapid progression. LONS: >72 hours, nosocomial, slower progression.
29
What are the typical clinical features of EONS?
Respiratory distress, temperature instability, poor feeding, lethargy, hypotension, apnea.
30
What is the gold standard for diagnosing neonatal sepsis?
Blood culture, obtained before starting antibiotics.
31
What laboratory findings are commonly associated with neonatal sepsis?
Neutropenia, left shift, toxic granulation, elevated CRP, procalcitonin.
32
What additional diagnostic tests should be considered in suspected neonatal sepsis?
CSF analysis (LP), urine culture (LONS), CXR (if respiratory symptoms present).
33
What metabolic abnormalities are common in neonatal sepsis?
Hypoglycemia (<45 mg/dL), metabolic acidosis, electrolyte imbalances.
34
What is the initial antibiotic regimen for suspected neonatal sepsis?
Ampicillin and gentamicin, or ampicillin and cefotaxime, depending on local resistance patterns.
35
What are the major complications of neonatal sepsis?
Septic shock, DIC, meningitis, long-term neurodevelopmental impairment.
36
How is neonatal sepsis managed in the NICU?
Supportive care (IV fluids, respiratory support), empirical antibiotics, monitoring for complications.
37
What preventive strategies reduce the risk of EONS?
Maternal GBS screening, intrapartum antibiotic prophylaxis (IAP), strict hand hygiene in NICU.
38
What is the role of intrapartum antibiotic prophylaxis (IAP) in preventing EONS?
Reduces vertical transmission of GBS and significantly lowers EONS incidence.
39
What are the long-term outcomes for neonates with neonatal sepsis?
Potential for neurodevelopmental delay, hearing loss, cerebral palsy, and learning disabilities.
40
What factors predict poor outcomes in neonatal sepsis?
Prematurity, very low birth weight (<1500 g), delayed antibiotic therapy, severe initial clinical presentation.
41
What is the most likely diagnosis for a neonate with jaundice within the first 24 hours of life?
Hemolytic Disease of the Newborn (e.g., ABO or Rh incompatibility), G6PD deficiency, or congenital infections.
42
What maternal factors increase the risk of neonatal jaundice?
Maternal blood group O (ABO incompatibility), Rh-negative mother (Rh incompatibility), family history of hemolysis, maternal diabetes.
43
What neonatal factors contribute to early-onset jaundice?
Prematurity, polycythemia, cephalohematoma, delayed cord clamping, G6PD deficiency, congenital infections.
44
What are the expected findings in physiological jaundice?
Jaundice onset after 24 hours, peaks at Day 3-5, resolves within 2 weeks, unconjugated hyperbilirubinemia.
45
What red flags suggest pathological jaundice?
Jaundice appearing <24 hours, TSB rising >5 mg/dL/day or >15 mg/dL, direct bilirubin >2 mg/dL, lethargy, poor feeding, hypotonia, opisthotonus.
46
What are the common causes of unconjugated hyperbilirubinemia in neonates?
Physiological jaundice, breast milk jaundice, hemolysis (ABO/Rh incompatibility, G6PD deficiency), sepsis, polycythemia, extravascular hemorrhage.
47
What are the common causes of conjugated hyperbilirubinemia in neonates?
Biliary atresia, neonatal hepatitis, TORCH infections, metabolic disorders (e.g., galactosemia), parenteral nutrition-associated cholestasis.
48
What is the significance of direct (conjugated) hyperbilirubinemia in neonates?
Always pathological, indicates hepatobiliary disease or metabolic disorder.
49
What is the primary test for confirming hemolytic disease of the newborn?
Direct antiglobulin test (DAT/Coombs test) – confirms presence of maternal antibodies on fetal RBCs.
50
What are the neurological complications of severe hyperbilirubinemia?
Acute bilirubin encephalopathy, kernicterus (irreversible), hearing loss, cerebral palsy, developmental delay.
51
What are the clinical signs of kernicterus?
Lethargy, hypotonia, poor feeding, high-pitched cry, opisthotonus, seizures, developmental delay, sensorineural hearing loss.
52
How is neonatal jaundice managed in the early stages?
Phototherapy, hydration, feeding support, monitoring bilirubin levels, exchange transfusion if severe.
53
What are the indications for exchange transfusion in neonatal jaundice?
TSB >25 mg/dL, rapidly rising bilirubin (>0.5 mg/dL/hr), signs of acute bilirubin encephalopathy, or failure of intensive phototherapy.
54
What is the mechanism of action of phototherapy in neonatal jaundice?
Converts unconjugated bilirubin into water-soluble photoisomers (lumirubin) that can be excreted in bile and urine.
55
What are the side effects of phototherapy?
Dehydration, hyperthermia, retinal damage, bronze baby syndrome (if direct hyperbilirubinemia is present).
56
What are the preventive strategies for neonatal jaundice?
Early feeding to promote bilirubin excretion, breastfeeding support, monitoring high-risk infants, maternal blood group and antibody screening.
57
What are the key components of a neonatal jaundice workup?
Total and direct bilirubin, blood type, Coombs test, CBC, reticulocyte count, G6PD screen, liver function tests.
58
What is the prognosis for infants with severe neonatal jaundice?
Excellent with early intervention, but risk of kernicterus and long-term neurodevelopmental impairment if untreated.
59
What are the long-term outcomes for infants with kernicterus?
Hearing loss, cerebral palsy, intellectual disability, dental dysplasia, upward gaze palsy.
60
What factors predict poor outcomes in neonatal jaundice?
Severe hemolysis, early onset (<24 hours), delayed treatment, high peak bilirubin levels, presence of neurological signs.
61
What is the most likely diagnosis for a neonate presenting with poor feeding, lethargy, weak cry, and hypotonia?
Neonatal Hypoglycemia – common in infants of diabetic mothers, preterm neonates, and those with intrauterine growth restriction (IUGR).
62
What maternal factors increase the risk of neonatal hypoglycemia?
Maternal diabetes (GDM, pregestational diabetes), maternal medications (β-blockers, oral hypoglycemics), maternal malnutrition or placental insufficiency (IUGR).
63
What neonatal factors contribute to hypoglycemia?
Prematurity, IUGR, LGA (hyperinsulinism), birth asphyxia, sepsis, polycythemia.
64
What are the hallmark signs of neonatal hypoglycemia?
Jitteriness, lethargy, seizures, hypotonia, tachycardia, sweating, high-pitched cry, apnea, respiratory distress.
65
How is neonatal hypoglycemia classified?
Transient (e.g., IDM, prematurity, SGA) or persistent (>48 hours, e.g., congenital hyperinsulinism, metabolic disorders).
66
What are the critical laboratory findings in neonatal hypoglycemia?
Low blood glucose (<45 mg/dL), high insulin (in hyperinsulinism), low ketones, abnormal lactate, abnormal cortisol or growth hormone.
67
What is the initial management of neonatal hypoglycemia?
Immediate glucose administration (oral, IV D10W), frequent feeding, monitoring blood glucose levels.
68
What are the long-term consequences of untreated neonatal hypoglycemia?
Seizures, cerebral palsy, developmental delay, cognitive impairment.
69
What are the differential diagnoses for persistent neonatal hypoglycemia?
Congenital hyperinsulinism, adrenal insufficiency, hypopituitarism, glycogen storage diseases, fatty acid oxidation defects.
70
What is the role of critical sampling in neonatal hypoglycemia?
Obtaining blood glucose, insulin, C-peptide, ketones, free fatty acids, cortisol, and growth hormone levels during hypoglycemic episodes to identify the underlying cause.
71
What imaging studies are useful in persistent neonatal hypoglycemia?
Pancreatic MRI or PET-CT (if hyperinsulinism suspected), brain MRI for structural abnormalities.
72
What genetic tests are indicated in persistent neonatal hypoglycemia?
KATP-channel mutations, Beckwith-Wiedemann syndrome, congenital hyperinsulinism gene panel.
73
What are the indications for diazoxide therapy in neonatal hypoglycemia?
Persistent hyperinsulinism, failure of glucose infusion to maintain normal glucose levels.
74
What are the side effects of diazoxide?
Fluid retention, hypertrichosis, cardiac failure, pulmonary hypertension.
75
What surgical options are available for congenital hyperinsulinism?
Partial or near-total pancreatectomy in severe, medically unresponsive cases.
76
What is the prognosis for infants with neonatal hypoglycemia?
Excellent with early intervention, but risk of neurological impairment if diagnosis or treatment is delayed.
77
What preventive strategies reduce the risk of neonatal hypoglycemia?
Early feeding, glucose monitoring in high-risk neonates, optimized maternal glycemic control.
78
What are the key components of long-term follow-up for neonatal hypoglycemia?
Neurodevelopmental assessment, regular endocrine evaluation, genetic counseling if indicated.
79
What factors predict poor outcomes in neonatal hypoglycemia?
Severe, prolonged hypoglycemia, delayed treatment, associated neurological signs, underlying genetic or metabolic disorder.
80
What is the most likely diagnosis for a neonate with respiratory distress, hypoxia, and cyanosis unresponsive to 100% oxygen?
Persistent Pulmonary Hypertension of the Newborn (PPHN) – characterized by elevated pulmonary vascular resistance and right-to-left shunting.
81
What maternal factors increase the risk of PPHN?
Meconium-stained amniotic fluid, maternal NSAID use, perinatal hypoxia (placental abruption, birth asphyxia, C-section without labor).
82
What neonatal factors contribute to PPHN?
Term or late-preterm birth, history of delayed crying or resuscitation, meconium aspiration, pneumonia, or RDS.
83
What are the hallmark clinical signs of PPHN?
Severe cyanosis despite 100% oxygen, loud single S2, tricuspid regurgitation murmur, pre- and post-ductal SpO₂ difference >10%.
84
What is the pathophysiology of PPHN?
Failure of normal pulmonary vascular relaxation after birth, leading to high pulmonary pressures, right-to-left shunting, and severe hypoxia.
85
What are the common causes of PPHN in neonates?
Meconium aspiration syndrome (MAS), perinatal asphyxia, congenital diaphragmatic hernia (CDH), pulmonary hypoplasia.
86
What is the role of echocardiography in PPHN?
Confirms elevated pulmonary pressures, right-to-left shunting, excludes structural heart defects.
87
What is the initial management of PPHN?
Oxygen therapy, inhaled nitric oxide (iNO), high-frequency ventilation, ECMO in severe cases.
88
What are the indications for ECMO in PPHN?
Severe hypoxia despite maximal ventilatory support, failure of conventional and high-frequency ventilation.
89
What medications are used to reduce pulmonary vascular resistance in PPHN?
Inhaled nitric oxide (iNO), sildenafil, prostacyclin analogs, milrinone.
90
What is the role of inhaled nitric oxide (iNO) in PPHN?
Selective pulmonary vasodilator, improves oxygenation without systemic hypotension.
91
What are the potential complications of PPHN?
Chronic lung disease, neurodevelopmental impairment, right heart failure, prolonged hospitalization.
92
How is the pre- and post-ductal SpO₂ difference used in diagnosing PPHN?
A difference >10% confirms right-to-left shunting, indicating PPHN.
93
What are the long-term outcomes for infants with PPHN?
Chronic lung disease, neurodevelopmental delay, pulmonary hypertension in later life.
94
What are the preventive strategies for PPHN?
Preventing meconium aspiration, avoiding perinatal asphyxia, early management of respiratory distress.
95
What is the significance of oxygenation index (OI) in PPHN?
OI >40 is an indication for ECMO, reflects severity of hypoxia and lung disease.
96
What supportive measures are essential in PPHN management?
Thermoregulation, fluid management, prevention of acidosis, sedation, and analgesia.
97
What are the criteria for weaning off iNO in PPHN?
Stable oxygenation, reduced pulmonary pressures, no significant right-to-left shunting.
98
What factors predict poor outcomes in PPHN?
Severe, prolonged hypoxia, delayed treatment, associated lung or cardiac malformations, need for ECMO.
99
What is the most likely diagnosis for a neonate presenting with poor feeding, lethargy, temperature instability, and bulging fontanelle?
Neonatal Meningitis – a severe, life-threatening infection of the central nervous system in neonates.
100
What maternal factors increase the risk of neonatal meningitis?
Prolonged rupture of membranes (>18 hours), maternal fever, chorioamnionitis, lack of intrapartum antibiotic prophylaxis (IAP) in GBS-positive mother.
101
What neonatal factors are important in assessing the risk of meningitis?
Preterm birth, low birth weight (<2500 g), need for resuscitation, poor feeding, lethargy, respiratory distress.
102
What are the classical signs of neonatal meningitis?
Lethargy, poor suck, high-pitched cry, bulging fontanelle, seizures, temperature instability, apnea, bradycardia.
103
What are the red flags for severe disease or complications in neonatal meningitis?
Refractory seizures, hypotension, metabolic acidosis, disseminated intravascular coagulation (DIC), rapidly worsening neurological status.
104
What are the common pathogens causing neonatal meningitis?
Group B Streptococcus (GBS), E. coli, Listeria monocytogenes, Klebsiella, Streptococcus pneumoniae, Neisseria meningitidis.
105
What laboratory tests confirm neonatal meningitis?
CSF analysis (cell count, glucose, protein, Gram stain, culture), blood culture, CRP, procalcitonin.
106
What is the role of lumbar puncture (LP) in suspected neonatal meningitis?
Essential for confirming diagnosis, identifying causative organism, and guiding antibiotic therapy.
107
What are the contraindications for lumbar puncture in neonates?
Signs of raised intracranial pressure (bulging fontanelle, bradycardia, hypertension), severe cardiorespiratory instability, thrombocytopenia.
108
What antibiotics are used in the empirical treatment of neonatal meningitis?
Ampicillin and cefotaxime or ampicillin and gentamicin, adjusted based on culture results.
109
What are the long-term complications of neonatal meningitis?
Seizures, hearing loss, cerebral palsy, hydrocephalus, neurodevelopmental delay.
110
What supportive care measures are critical in managing neonatal meningitis?
Fluid management, seizure control, respiratory support, monitoring for complications (e.g., SIADH).
111
What are the indications for neuroimaging in neonatal meningitis?
Focal neurological signs, refractory seizures, suspected abscess, hydrocephalus, or venous sinus thrombosis.
112
What is the role of adjunctive corticosteroids in neonatal meningitis?
Controversial, may reduce hearing loss in H. influenzae meningitis, not routinely recommended for GBS or E. coli meningitis.
113
What preventive strategies reduce the risk of neonatal meningitis?
Maternal GBS screening, intrapartum antibiotic prophylaxis, hand hygiene, vaccination (e.g., GBS, pneumococcal, meningococcal).
114
What are the criteria for discharge in a neonate recovering from meningitis?
Clinical stability, normal feeding, negative follow-up cultures, completion of antibiotic course, family education on follow-up care.
115
What is the prognosis for neonates with bacterial meningitis?
Varies widely, depends on promptness of diagnosis, pathogen, and severity of illness; high risk of long-term neurological sequelae.
116
What factors predict poor outcomes in neonatal meningitis?
Prematurity, delayed treatment, severe initial presentation, refractory seizures, prolonged hospital stay.
117
What follow-up is required for neonates recovering from meningitis?
Audiology screening, neurodevelopmental assessment, head ultrasound, ongoing monitoring for neurological sequelae.
118
What is the most likely diagnosis for a neonate presenting with poor feeding, vomiting, irritability, and seizures within the first week of life?
Inborn Errors of Metabolism (IEM) – a group of genetic disorders that disrupt normal metabolic pathways, leading to toxic metabolite accumulation.
119
What perinatal risk factors suggest an inborn error of metabolism (IEM)?
Family history of unexplained neonatal deaths, parental consanguinity, normal birth followed by sudden deterioration.
120
What neonatal symptoms suggest an IEM?
Poor feeding, vomiting, lethargy, seizures, tachypnea, Kussmaul breathing, hypotonia alternating with irritability.
121
What are the hallmark signs of a metabolic disorder in neonates?
Lethargy, coma, poor Moro reflex, intermittent hypertonia, persistent vomiting, hepatomegaly, metabolic acidosis.
122
What laboratory findings suggest an IEM?
Metabolic acidosis, hypoglycemia, hyperammonemia, ketonuria, elevated lactate, abnormal plasma amino acids, urine organic acids.
123
What is the role of a critical sample in suspected IEM?
Collect blood, urine, and CSF before starting treatment to identify the specific metabolic defect.
124
What are the initial management steps in a neonate with suspected IEM?
Stop protein intake, provide glucose for energy, correct acidosis, remove toxins, and prevent catabolism.
125
What imaging studies are useful in evaluating suspected IEM?
Brain MRI or CT may show cerebral edema, white matter changes, or basal ganglia abnormalities.
126
What are the common metabolic disorders presenting in the neonatal period?
Urea cycle defects, organic acidemias, amino acidopathies (e.g., maple syrup urine disease), fatty acid oxidation defects.
127
What genetic tests are used to confirm IEM diagnosis?
Targeted gene panels, whole exome sequencing, specific enzyme assays.
128
What are the long-term outcomes for neonates with IEM?
Varies widely depending on the disorder, early diagnosis, and treatment, but may include neurodevelopmental delay, seizures, and organ damage.
129
What are the differential diagnoses for neonatal metabolic crisis?
Sepsis, hypoxic-ischemic encephalopathy, congenital heart disease, endocrine disorders, toxic ingestion.
130
What is the role of dialysis in the management of IEM?
Used in severe metabolic crises to rapidly reduce toxin levels (e.g., hyperammonemia in urea cycle disorders).
131
What are the indications for liver transplantation in IEM?
Severe, progressive liver disease, enzyme deficiencies not responsive to medical therapy (e.g., urea cycle defects, Crigler-Najjar syndrome).
132
What supportive care measures are critical in managing IEM?
Respiratory support, seizure control, fluid management, electrolyte correction, nutrition support.
133
What preventive strategies reduce the risk of metabolic crises in IEM?
Early diagnosis through newborn screening, dietary management, emergency protocols during illness.
134
What factors predict poor outcomes in neonates with IEM?
Delayed diagnosis, severe initial presentation, recurrent metabolic crises, lack of specialized care.
135
What follow-up is required for neonates diagnosed with IEM?
Regular metabolic clinic visits, developmental assessment, genetic counseling, ongoing dietary management.
136
What are the challenges in diagnosing IEM in neonates?
Overlapping symptoms with sepsis, non-specific presentation, need for specialized biochemical testing.
137
What is the most likely diagnosis for a neonate presenting with abdominal distension, bloody stools, and feeding intolerance?
Necrotizing Enterocolitis (NEC) – a life-threatening inflammatory disease of the neonatal gut characterized by intestinal ischemia, bacterial invasion, and necrosis.
138
What are the key maternal risk factors for NEC?
Maternal preeclampsia, intrauterine growth restriction (IUGR), chorioamnionitis, prolonged rupture of membranes (PROM).
139
What are the key neonatal risk factors for NEC?
Prematurity (<32 weeks), low birth weight, formula feeding, respiratory distress, sepsis, hypotension.
140
What are the hallmark clinical features of NEC?
Feeding intolerance, abdominal distension, bloody stools, temperature instability, apnea, metabolic acidosis.
141
What are the stages of NEC based on Bell's criteria?
1. Stage I (Suspected NEC)
IA: Mild symptoms – feeding intolerance, mild distension, gastric residuals.
IB: Same as IA plus grossly bloody stool.
X-ray: Normal or nonspecific gas patterns.
2. Stage II (Proven NEC)
IIA: Systemic signs (apnea, bradycardia), abdominal tenderness, pneumatosis intestinalis on X-ray.
IIB: More severe signs – thrombocytopenia, metabolic acidosis, portal venous gas, possible ascites.
3. Stage III (Advanced NEC)
IIIA: Critically ill, signs of peritonitis, bowel still intact. Severe systemic instability (shock, DIC).
IIIB: Same as IIIA but with bowel perforation (pneumoperitoneum on X-ray).
142
What are the classic radiographic findings in NEC?
Pneumatosis intestinalis (air in the bowel wall), portal venous gas, pneumoperitoneum (if perforation).
143
What is the initial management of NEC?
NPO (nothing by mouth), nasogastric decompression, broad-spectrum antibiotics, fluid resuscitation, TPN, respiratory support.
144
What are the surgical indications in NEC?
Perforation, severe or worsening clinical status despite medical management, fixed abdominal mass, peritonitis.
145
What is the role of breast milk in preventing NEC?
Breast milk contains protective factors (e.g., IgA, growth factors, prebiotics) that reduce the risk of NEC.
146
What are the differential diagnoses for NEC?
Sepsis with ileus, spontaneous intestinal perforation (SIP), cow's milk protein allergy, volvulus, Hirschsprung disease.
147
What are the long-term complications of NEC?
Short bowel syndrome, intestinal strictures, malabsorption, cholestasis, neurodevelopmental impairment.
148
What are the preventive strategies for NEC?
Breastfeeding, delayed cord clamping, probiotic supplementation, minimal enteral feeding, avoiding rapid feed advancement.
149
What laboratory findings are commonly seen in NEC?
Leukocytosis, thrombocytopenia, metabolic acidosis, elevated CRP, hypoalbuminemia.
150
What is the prognosis for neonates with NEC?
Highly variable, depends on severity and gestational age; higher mortality in preterm infants with extensive bowel involvement.
151
What supportive measures are critical in managing NEC?
Thermoregulation, fluid and electrolyte management, infection control, nutritional support.
152
What are the key components of post-discharge care for NEC survivors?
Growth monitoring, nutritional support, neurodevelopmental assessment, surgical follow-up if needed.
153
What is the significance of pneumatosis intestinalis in NEC?
Pathognomonic for NEC, indicates gas-producing bacteria within the bowel wall.
154
What are the challenges in diagnosing NEC in preterm neonates?
Overlapping symptoms with sepsis, need for serial abdominal exams and imaging, variable clinical course.
155
What factors predict poor outcomes in NEC?
Low birth weight, severe initial presentation, delayed diagnosis, extensive bowel necrosis, need for surgery.
156
What is the most likely diagnosis for a neonate presenting with jaundice, pale stools, dark urine, and hepatomegaly?
Neonatal Cholestasis – a condition characterized by impaired bile flow, leading to conjugated hyperbilirubinemia.
157
What are the common causes of neonatal cholestasis?
Biliary atresia, neonatal hepatitis, TORCH infections, Alagille syndrome, cystic fibrosis, parenteral nutrition-associated cholestasis.
158
What maternal and perinatal factors suggest neonatal cholestasis?
Maternal infections (TORCH, CMV, syphilis, hepatitis B/C), preterm birth, prolonged TPN use, sepsis.
159
What are the hallmark clinical features of neonatal cholestasis?
Prolonged jaundice (>2 weeks), dark urine, pale (acholic) stools, hepatomegaly, poor weight gain.
160
What laboratory findings are commonly seen in neonatal cholestasis?
Elevated direct (conjugated) bilirubin, elevated liver enzymes (AST, ALT, GGT), prolonged PT/INR, low albumin.
161
What is the gold standard for diagnosing biliary atresia?
Intraoperative cholangiography – confirms the absence of bile flow from the liver to the intestine.
162
What imaging studies are useful in evaluating neonatal cholestasis?
Abdominal ultrasound (triangular cord sign, absent gallbladder), HIDA scan, MRCP, liver biopsy.
163
What is the role of liver biopsy in neonatal cholestasis?
Helps differentiate between biliary atresia and neonatal hepatitis, assesses degree of fibrosis and inflammation.
164
What is the initial management of neonatal cholestasis?
Nutritional support (medium-chain triglycerides, fat-soluble vitamins), treatment of underlying infections, surgical intervention if needed.
165
What are the indications for the Kasai procedure in biliary atresia?
Confirmed biliary atresia, age <60 days for optimal outcomes, absence of severe liver cirrhosis.
166
What are the long-term complications of biliary atresia?
Cirrhosis, portal hypertension, liver failure, fat-soluble vitamin deficiencies, poor growth, liver transplant requirement.
167
What is the prognosis for infants with biliary atresia after the Kasai procedure?
Varies widely, 60-80% may require liver transplantation by adolescence due to progressive liver disease.
168
What supportive measures are critical in managing neonatal cholestasis?
Nutritional support, prevention of fat-soluble vitamin deficiencies, management of pruritus, infection control.
169
What are the differential diagnoses for neonatal cholestasis?
Biliary atresia, neonatal hepatitis, Alagille syndrome, cystic fibrosis, alpha-1 antitrypsin deficiency, metabolic liver disease.
170
What is the role of genetic testing in neonatal cholestasis?
Identifies genetic syndromes (e.g., Alagille syndrome, cystic fibrosis, PFIC) associated with cholestasis.
171
What factors predict poor outcomes in neonatal cholestasis?
Late diagnosis, severe liver fibrosis, poor response to Kasai procedure, recurrent cholangitis, need for liver transplantation.
172
What are the criteria for liver transplantation in neonatal cholestasis?
Progressive liver failure, intractable pruritus, recurrent cholangitis, severe growth failure despite medical management.
173
What are the challenges in diagnosing neonatal cholestasis?
Overlapping symptoms with other causes of neonatal jaundice, need for early surgical intervention, complex diagnostic workup.
174
What follow-up is required for infants with neonatal cholestasis?
Regular liver function tests, growth monitoring, vitamin supplementation, early detection of complications.
175
What preventive strategies reduce the risk of severe liver disease in neonatal cholestasis?
Early diagnosis, timely Kasai procedure, aggressive nutritional support, prevention of infections.
176
What is the most likely diagnosis for a neonate presenting with poor feeding, lethargy, weak cry, and prolonged jaundice?
Congenital Hypothyroidism – a common endocrine disorder caused by thyroid hormone deficiency, leading to impaired growth and neurodevelopment.
177
What maternal factors increase the risk of congenital hypothyroidism?
Maternal iodine deficiency, maternal Hashimoto’s thyroiditis, maternal use of antithyroid drugs (methimazole, PTU) during pregnancy.
178
What neonatal risk factors are associated with congenital hypothyroidism?
Family history of thyroid disease, post-term gestation, low birth weight, chromosomal abnormalities (e.g., Down syndrome).
179
What are the hallmark clinical features of congenital hypothyroidism?
Prolonged jaundice, hypotonia, poor feeding, large anterior fontanelle, macroglossia, umbilical hernia, developmental delay.
180
What laboratory findings confirm congenital hypothyroidism?
Elevated TSH, low free T4, thyroid imaging may show ectopic thyroid tissue or thyroid agenesis.
181
What is the role of newborn screening in detecting congenital hypothyroidism?
Routine screening at 2-5 days of life, identifies affected infants before symptoms appear, prevents long-term disability.
182
What is the initial treatment for congenital hypothyroidism?
Levothyroxine replacement therapy, ideally started within the first 2 weeks of life.
183
What is the prognosis for infants with congenital hypothyroidism?
Excellent with early diagnosis and treatment, but risk of intellectual disability if untreated or treatment delayed.
184
What are the long-term complications of untreated congenital hypothyroidism?
Severe intellectual disability, growth failure, delayed puberty, neurological deficits.
185
What is the role of thyroid imaging in congenital hypothyroidism?
Identifies thyroid dysgenesis, ectopia, or agenesis; helps guide long-term management.
186
What are the differential diagnoses for congenital hypothyroidism?
Thyroid hormone synthesis defects, central hypothyroidism (pituitary or hypothalamic disorders), transient hypothyroidism.
187
What are the key components of long-term follow-up for congenital hypothyroidism?
Regular TSH and free T4 monitoring, growth and developmental assessments, dose adjustments as the child grows.
188
What factors predict poor outcomes in congenital hypothyroidism?
Late diagnosis, delayed treatment initiation, severe initial TSH elevation, poor compliance with medication.
189
What is the significance of delayed passage of meconium in congenital hypothyroidism?
Suggests sluggish bowel motility due to reduced thyroid hormone levels, increases risk of intestinal obstruction.
190
What are the challenges in diagnosing congenital hypothyroidism in preterm infants?
Lower TSH surge at birth, delayed TSH rise, need for repeat screening, overlapping symptoms with other conditions.
191
What are the side effects of levothyroxine therapy?
Over-replacement can cause irritability, poor weight gain, tachycardia, bone age advancement, reduced bone density.
192
What is the significance of a large anterior fontanelle in congenital hypothyroidism?
Reflects delayed bone maturation, common in untreated or poorly controlled hypothyroidism.
193
What are the dietary considerations for infants with congenital hypothyroidism?
Adequate iodine intake, avoidance of goitrogens (e.g., soy, cabbage), consistent thyroid hormone dosing.
194
What are the preventive strategies for congenital hypothyroidism?
Newborn screening, maternal iodine supplementation in deficient areas, early thyroid hormone replacement.
195
What follow-up is required for neonates diagnosed with congenital hypothyroidism?
Regular thyroid function tests, growth monitoring, neurodevelopmental assessments, lifelong thyroid hormone replacement.
196
What is the most likely diagnosis for a neonate presenting with seizures, hypoglycemia, and ambiguous genitalia?
Congenital Adrenal Hyperplasia (CAH) – a group of autosomal recessive disorders affecting cortisol and aldosterone synthesis.
197
What are the most common enzyme deficiencies in CAH?
21-hydroxylase deficiency (95%), 11β-hydroxylase deficiency, 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency.
198
What is the pathophysiology of 21-hydroxylase deficiency?
Blocked cortisol and aldosterone synthesis, excess androgen production, salt-wasting, and adrenal crisis.
199
What are the hallmark clinical features of classic 21-hydroxylase deficiency?
Salt-wasting crisis (hyponatremia, hyperkalemia, hypotension), ambiguous genitalia in females, early virilization in males.
200
What are the laboratory findings in 21-hydroxylase deficiency?
Elevated 17-hydroxyprogesterone (17-OHP), low cortisol, low aldosterone, elevated ACTH, hyponatremia, hyperkalemia.
201
What is the role of newborn screening in CAH?
Detects elevated 17-OHP, allows early diagnosis and treatment, reduces morbidity and mortality.
202
What is the initial management of CAH in the neonatal period?
IV hydrocortisone, fluid resuscitation, electrolyte correction, mineralocorticoid replacement (fludrocortisone).
203
What are the long-term complications of untreated CAH?
Growth failure, precocious puberty, infertility, adrenal crisis, psychological distress due to ambiguous genitalia.
204
What is the role of genetic testing in CAH?
Confirms diagnosis, identifies carrier status, guides genetic counseling and prenatal diagnosis.
205
What are the differential diagnoses for ambiguous genitalia in neonates?
Androgen insensitivity syndrome, mixed gonadal dysgenesis, 5α-reductase deficiency, maternal androgen exposure.
206
What supportive measures are critical in managing CAH?
Parental education, stress dose steroids during illness, salt supplementation, regular endocrinology follow-up.
207
What are the criteria for discharge in a neonate with CAH?
Stable electrolytes, appropriate weight gain, parental understanding of medication dosing and stress management.
208
What is the long-term follow-up for neonates with CAH?
Regular growth and development monitoring, bone age assessment, hormone level monitoring, psychological support.
209
What is the prognosis for infants with CAH?
Excellent with early diagnosis and lifelong hormone replacement, but risk of adrenal crisis without proper management.
210
What factors predict poor outcomes in CAH?
Delayed diagnosis, severe salt-wasting, poor medication compliance, inadequate stress dosing.
211
What is the role of prenatal dexamethasone in CAH?
Reduces virilization in affected female fetuses if started early in pregnancy, but controversial due to potential side effects.
212
What are the challenges in managing CAH during surgery or critical illness?
Need for higher steroid doses, risk of adrenal crisis, careful fluid and electrolyte management.
213
What are the signs of adrenal crisis in neonates with CAH?
Hypotension, hypoglycemia, vomiting, lethargy, shock, hyperkalemia, hyponatremia.
214
What are the preventive strategies for adrenal crisis in CAH?
Stress dosing during illness, parental education, emergency hydrocortisone injection, regular endocrinology follow-up.
215
What dietary considerations are important for neonates with CAH?
Adequate sodium intake, avoidance of excessive potassium, consistent medication dosing.
216
What is the most likely diagnosis for a neonate with poor feeding, lethargy, hypotonia, and seizures?
Neonatal Hypocalcemia – a common electrolyte disturbance in neonates characterized by low serum calcium levels.
217
What maternal factors increase the risk of neonatal hypocalcemia?
Maternal diabetes, maternal use of magnesium sulfate (for preeclampsia), vitamin D deficiency.
218
What neonatal factors are associated with hypocalcemia?
Prematurity, birth asphyxia, intrauterine growth restriction (IUGR), DiGeorge syndrome, perinatal stress.
219
What are the hallmark clinical features of neonatal hypocalcemia?
Jitteriness, seizures, irritability, hyperreflexia, prolonged QT interval, tetany, stridor, apnea.
220
What laboratory findings confirm neonatal hypocalcemia?
Serum calcium <7 mg/dL (total) or <1.1 mmol/L (ionized), low PTH (in hypoparathyroidism), elevated phosphate.
221
What is the initial management of neonatal hypocalcemia?
IV calcium gluconate for severe cases, oral calcium and vitamin D supplements for maintenance.
222
What are the differential diagnoses for neonatal hypocalcemia?
Hypoparathyroidism, vitamin D deficiency, pseudohypoparathyroidism, magnesium deficiency, DiGeorge syndrome.
223
What is the role of magnesium in neonatal hypocalcemia?
Hypomagnesemia can impair PTH release, leading to secondary hypocalcemia.
224
What is the prognosis for neonates with hypocalcemia?
Excellent with early diagnosis and treatment, but risk of seizures and developmental delay if untreated.
225
What are the long-term complications of untreated neonatal hypocalcemia?
Seizures, developmental delay, cognitive impairment, cardiac arrhythmias.
226
What are the preventive strategies for neonatal hypocalcemia?
Maternal vitamin D supplementation, monitoring high-risk neonates, early feeding.
227
What are the indications for prolonged calcium supplementation in neonates?
Severe hypocalcemia, persistent hypoparathyroidism, genetic causes, malabsorption syndromes.
228
What are the challenges in managing neonatal hypocalcemia?
Frequent monitoring, difficulty maintaining stable calcium levels, risk of hypercalcemia with overtreatment.
229
What are the key components of long-term follow-up for neonatal hypocalcemia?
Regular calcium and phosphate monitoring, neurodevelopmental assessments, genetic counseling if indicated.
230
What is the role of vitamin D in the management of neonatal hypocalcemia?
Promotes calcium absorption, reduces PTH levels, prevents rickets and osteomalacia.
231
What is the significance of prolonged QT interval in neonatal hypocalcemia?
Increased risk of cardiac arrhythmias, requires urgent correction of calcium levels.
232
What are the dietary considerations for neonates with hypocalcemia?
Adequate calcium and vitamin D intake, avoidance of high-phosphate foods, regular feeding.
233
What is the role of genetic testing in neonatal hypocalcemia?
Identifies genetic causes like DiGeorge syndrome, calcium-sensing receptor mutations, hypoparathyroidism.
234
What factors predict poor outcomes in neonatal hypocalcemia?
Severe, prolonged hypocalcemia, delayed treatment, associated genetic syndromes, recurrent seizures.
235
What is the most likely diagnosis for a neonate presenting with poor feeding, lethargy, vomiting, and metabolic acidosis?
Organic Acidemia – a group of inborn errors of metabolism characterized by the accumulation of organic acids, leading to metabolic acidosis and neurological symptoms.
236
What are the common types of organic acidemias in neonates?
Methylmalonic acidemia (MMA), propionic acidemia (PA), isovaleric acidemia (IVA), glutaric acidemia type I (GA-I).
237
What are the hallmark clinical features of organic acidemias?
Poor feeding, vomiting, lethargy, metabolic acidosis, hypoglycemia, hyperammonemia, seizures, hypotonia.
238
What laboratory findings suggest an organic acidemia?
Metabolic acidosis with an increased anion gap, elevated plasma ammonia, ketonuria, elevated lactate, hypoglycemia.
239
What is the role of a critical sample in diagnosing organic acidemias?
Obtain plasma amino acids, urine organic acids, plasma acylcarnitine profile before starting treatment.
240
What is the initial management of organic acidemias?
Stop protein intake, provide glucose for energy, correct acidosis, hemodialysis in severe cases, carnitine and vitamin supplementation.
241
What genetic tests confirm the diagnosis of organic acidemias?
Targeted gene panels, whole exome sequencing, specific enzyme assays (e.g., methylmalonyl-CoA mutase activity).
242
What are the long-term complications of untreated organic acidemias?
Neurodevelopmental delay, seizures, metabolic strokes, cardiomyopathy, renal failure, growth failure.
243
What is the role of liver transplantation in organic acidemias?
Considered in severe cases with recurrent metabolic crises, progressive liver disease, or failure to thrive.
244
What are the dietary considerations for neonates with organic acidemias?
Protein restriction, avoidance of fasting, specialized formulas, carnitine supplementation, frequent feeding.
245
What supportive measures are critical in managing organic acidemias?
Fluid and electrolyte management, prevention of catabolism, aggressive treatment of intercurrent infections.
246
What is the role of carnitine in the management of organic acidemias?
Enhances the excretion of toxic organic acids, supports fatty acid oxidation, improves energy production.
247
What are the differential diagnoses for metabolic acidosis in neonates?
Sepsis, hypoxic-ischemic encephalopathy, congenital heart disease, renal tubular acidosis, mitochondrial disorders.
248
What are the preventive strategies for metabolic crises in organic acidemias?
Early diagnosis, dietary management, emergency protocols during illness, regular metabolic follow-up.
249
What are the criteria for discharge in a neonate with organic acidemia?
Stable metabolic parameters, parental education, appropriate weight gain, close follow-up with metabolic specialist.
250
What is the prognosis for infants with organic acidemias?
Varies widely depending on the specific disorder, early diagnosis, and adherence to dietary restrictions.
251
What factors predict poor outcomes in organic acidemias?
Delayed diagnosis, severe initial presentation, recurrent metabolic crises, lack of specialized care.
252
What follow-up is required for neonates diagnosed with organic acidemias?
Regular metabolic clinic visits, developmental assessment, genetic counseling, ongoing dietary management.
253
What are the challenges in managing organic acidemias during critical illness?
Need for aggressive metabolic support, prevention of catabolism, frequent monitoring, risk of rapid decompensation.
254
What are the indications for genetic counseling in organic acidemias?
Family planning, identifying at-risk siblings, carrier testing, prenatal diagnosis in future pregnancies.
255
What is the most likely diagnosis for a neonate with feeding difficulty, hypotonia, and respiratory distress?
Prader-Willi Syndrome (PWS) – a genetic disorder caused by loss of function of paternally inherited genes on chromosome 15q11-q13.
256
What are the hallmark clinical features of Prader-Willi Syndrome in neonates?
Hypotonia, poor suck, feeding difficulties, failure to thrive, weak cry, hypogonadism.
257
What genetic abnormality causes Prader-Willi Syndrome?
Loss of paternally expressed genes on chromosome 15q11-q13, often due to paternal deletion, maternal uniparental disomy, or imprinting defects.
258
What are the long-term complications of Prader-Willi Syndrome?
Obesity, intellectual disability, behavioral problems, scoliosis, sleep apnea, type 2 diabetes.
259
What is the role of genetic testing in confirming Prader-Willi Syndrome?
Methylation testing, FISH analysis, or chromosomal microarray to identify the genetic cause.
260
What is the initial management of Prader-Willi Syndrome in neonates?
Feeding support, early physical therapy, endocrine evaluation, genetic counseling.
261
What is the role of growth hormone therapy in Prader-Willi Syndrome?
Improves growth, muscle strength, physical development, and body composition.
262
What are the differential diagnoses for neonatal hypotonia?
Down syndrome, spinal muscular atrophy, congenital myopathies, metabolic disorders, central hypotonia.
263
What are the nutritional considerations for neonates with Prader-Willi Syndrome?
High-calorie feeds for initial poor weight gain, later calorie restriction to prevent obesity.
264
What are the criteria for discharge in a neonate with Prader-Willi Syndrome?
Stable feeding, appropriate weight gain, parental education, coordinated outpatient follow-up.
265
What supportive measures are critical in managing Prader-Willi Syndrome?
Multidisciplinary care, physical therapy, early intervention programs, respiratory support if needed.
266
What are the key components of long-term follow-up for Prader-Willi Syndrome?
Endocrine management, growth monitoring, behavioral support, obesity prevention, sleep studies.
267
What is the prognosis for infants with Prader-Willi Syndrome?
Varies widely, but early intervention and growth hormone therapy improve outcomes.
268
What factors predict poor outcomes in Prader-Willi Syndrome?
Severe hypotonia, delayed diagnosis, lack of multidisciplinary support, early-onset obesity.
269
What is the role of genetic counseling in Prader-Willi Syndrome?
Provides information on recurrence risk, family planning, and early detection in future pregnancies.
270
What are the challenges in managing Prader-Willi Syndrome?
Feeding difficulties in infancy, risk of severe obesity, behavioral problems, and respiratory issues.
271
What is the role of early intervention in Prader-Willi Syndrome?
Improves motor skills, cognitive development, speech, and overall quality of life.
272
What are the early signs of Prader-Willi Syndrome in neonates?
Hypotonia, weak cry, poor suck, feeding difficulties, hypogonadism, failure to thrive.
273
What are the preventive strategies for obesity in Prader-Willi Syndrome?
Early dietary management, regular physical activity, close weight monitoring, family education.
274
What is the most likely diagnosis for a neonate presenting with cyanosis, respiratory distress, and a scaphoid abdomen?
Congenital Diaphragmatic Hernia (CDH) – a defect in the diaphragm allowing abdominal organs to herniate into the thoracic cavity.
275
What are the hallmark clinical features of congenital diaphragmatic hernia?
Severe respiratory distress, cyanosis, scaphoid abdomen, decreased breath sounds, shifted heart sounds, barrel-shaped chest.
276
What are the common types of congenital diaphragmatic hernia?
Bochdalek hernia (posterolateral, most common), Morgagni hernia (anterior), and central diaphragmatic defects.
277
What is the pathophysiology of respiratory distress in CDH?
Pulmonary hypoplasia, pulmonary hypertension, decreased lung compliance, impaired gas exchange.
278
What imaging studies confirm the diagnosis of CDH?
Chest X-ray (loops of bowel in the chest, mediastinal shift), prenatal ultrasound, fetal MRI for lung volume assessment.
279
What is the initial management of congenital diaphragmatic hernia in the delivery room?
Intubation, avoidance of bag-mask ventilation, gastric decompression, mechanical ventilation, transfer to NICU.
280
What is the role of ECMO in severe CDH?
Provides cardiopulmonary support in neonates with severe pulmonary hypertension and respiratory failure.
281
What are the surgical options for congenital diaphragmatic hernia?
Primary diaphragmatic repair, patch repair for large defects, minimally invasive approaches in select cases.
282
What are the long-term complications of CDH?
Chronic lung disease, pulmonary hypertension, gastroesophageal reflux, growth failure, neurodevelopmental delay.
283
What are the differential diagnoses for respiratory distress in neonates?
Respiratory distress syndrome, transient tachypnea of the newborn, congenital heart disease, sepsis, pneumothorax.
284
What are the criteria for discharge in a neonate with CDH?
Stable respiratory status, adequate feeding, weight gain, family education on long-term follow-up.
285
What supportive measures are critical in managing CDH?
Fluid management, nutritional support, pulmonary vasodilators, respiratory support, infection prevention.
286
What is the prognosis for infants with congenital diaphragmatic hernia?
Varies widely, dependent on lung hypoplasia severity, early intervention, and presence of other anomalies.
287
What factors predict poor outcomes in CDH?
Severe pulmonary hypoplasia, persistent pulmonary hypertension, associated congenital anomalies, delayed diagnosis.
288
What is the role of fetal intervention in CDH?
Fetal endoscopic tracheal occlusion (FETO) in severe cases to promote lung growth, experimental and high-risk.
289
What are the nutritional considerations for neonates with CDH?
High-calorie feeds, careful fluid balance, management of gastroesophageal reflux, long-term feeding support.
290
What is the role of genetic testing in CDH?
Identifies syndromic causes (e.g., Fryns syndrome, Pallister-Killian syndrome), guides family counseling.
291
What are the challenges in managing CDH during critical illness?
Severe pulmonary hypertension, risk of rapid decompensation, need for ECMO, complex surgical repair.
292
What follow-up is required for neonates with CDH?
Regular pulmonary and cardiac evaluation, neurodevelopmental assessment, nutritional support, growth monitoring.
293
What is the most likely diagnosis for a neonate presenting with respiratory distress, cyanosis, and a heart murmur?
Congenital Heart Disease (CHD) – a structural abnormality of the heart present at birth, causing abnormal blood flow or oxygenation.
294
What are the common types of congenital heart defects?
Atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), tetralogy of Fallot (TOF), transposition of the great arteries (TGA).
295
What are the hallmark clinical features of critical congenital heart disease (CCHD)?
Cyanosis, respiratory distress, poor feeding, failure to thrive, sweating during feeds, murmur, hepatomegaly.
296
What is the role of pulse oximetry in screening for CCHD?
Detects hypoxemia, identifies duct-dependent lesions, part of routine newborn screening in many countries.
297
What imaging studies confirm the diagnosis of CHD?
Echocardiography, chest X-ray, ECG, cardiac MRI, cardiac catheterization for hemodynamic assessment.
298
What is the initial management of a neonate with suspected CCHD?
Oxygen therapy, prostaglandin E1 (PGE1) to maintain ductal patency, fluid management, transfer to a cardiac center.
299
What is the role of prostaglandin E1 (PGE1) in managing duct-dependent CHD?
Maintains ductus arteriosus patency, ensures pulmonary or systemic blood flow until definitive surgery.
300
What are the differential diagnoses for neonatal cyanosis?
Respiratory distress syndrome, persistent pulmonary hypertension of the newborn (PPHN), sepsis, hypoxic-ischemic encephalopathy.
301
What is the significance of a loud, single second heart sound in a cyanotic neonate?
Suggests a single ventricle physiology or severe pulmonary hypertension.
302
What are the long-term complications of congenital heart disease?
Heart failure, pulmonary hypertension, arrhythmias, neurodevelopmental delay, growth failure, need for repeat surgeries.
303
What supportive measures are critical in managing neonates with CHD?
Nutritional support, fluid balance, oxygenation, infection prevention, family education.
304
What is the prognosis for infants with critical congenital heart disease?
Varies widely, dependent on the specific defect, timing of intervention, and associated comorbidities.
305
What factors predict poor outcomes in congenital heart disease?
Severe cyanosis, multiple cardiac defects, delayed diagnosis, associated genetic syndromes, poor surgical tolerance.
306
What are the challenges in managing CHD during critical illness?
Risk of rapid decompensation, need for complex surgical repair, balancing oxygen delivery and pulmonary vascular resistance.
307
What is the role of genetic testing in congenital heart disease?
Identifies syndromic causes (e.g., Down syndrome, DiGeorge syndrome, Noonan syndrome), guides family counseling.
308
What are the criteria for discharge in a neonate with CHD?
Stable hemodynamics, adequate feeding, appropriate weight gain, family education, planned follow-up.
309
What follow-up is required for neonates with congenital heart disease?
Regular cardiac evaluation, neurodevelopmental assessment, growth monitoring, family support.
310
What are the preventive strategies for heart failure in neonates with CHD?
Early diagnosis, optimal medical management, regular follow-up, surgical correction when indicated.
311
What are the indications for surgical intervention in CHD?
Severe cyanosis, heart failure, failure to thrive, duct-dependent lesions, risk of pulmonary vascular disease.
312
What is the most likely diagnosis for a neonate presenting with cyanosis, respiratory distress, and oliguria shortly after birth?
Persistent Pulmonary Hypertension of the Newborn (PPHN) – a condition where the pulmonary vascular resistance remains elevated after birth, preventing normal circulatory transition.
313
What are the common causes of PPHN?
Meconium aspiration syndrome, neonatal sepsis, respiratory distress syndrome, congenital diaphragmatic hernia, hypoxia-ischemia, pulmonary hypoplasia.
314
What are the hallmark clinical features of PPHN?
Severe cyanosis, respiratory distress, pre- and post-ductal oxygen saturation difference, loud single second heart sound (S2).
315
What is the role of echocardiography in diagnosing PPHN?
Confirms elevated pulmonary pressures, right-to-left shunting, excludes structural heart defects.
316
What is the initial management of PPHN?
Oxygen therapy, mechanical ventilation, inhaled nitric oxide (iNO), sedation, hemodynamic support, ECMO if needed.
317
What is the role of inhaled nitric oxide (iNO) in PPHN?
Selective pulmonary vasodilator, reduces pulmonary vascular resistance without systemic hypotension.
318
What are the risk factors for PPHN?
Meconium-stained amniotic fluid, perinatal asphyxia, cesarean delivery without labor, maternal NSAID use.
319
What are the differential diagnoses for cyanosis in neonates?
Congenital heart disease, transient tachypnea of the newborn (TTN), neonatal pneumonia, sepsis, hypoxic-ischemic encephalopathy.
320
What are the long-term complications of PPHN?
Chronic lung disease, neurodevelopmental impairment, pulmonary hypertension in later life.
321
What are the criteria for ECMO in neonates with PPHN?
Severe hypoxemia despite maximal ventilatory support, oxygenation index (OI) >40, hemodynamic instability.
322
What supportive measures are critical in managing PPHN?
Thermoregulation, fluid management, prevention of acidosis, sedation, and analgesia.
323
What is the significance of pre- and post-ductal SpO₂ difference in PPHN?
Indicates right-to-left shunting through a patent ductus arteriosus or foramen ovale, confirming PPHN.
324
What factors predict poor outcomes in PPHN?
Severe hypoxia, delayed treatment, associated lung hypoplasia, need for ECMO, multiple organ dysfunction.
325
What is the prognosis for infants with PPHN?
Varies widely, better outcomes with early intervention, but risk of long-term pulmonary and neurological impairment.
326
What are the challenges in managing PPHN during critical illness?
Maintaining oxygenation, balancing systemic and pulmonary vascular resistance, preventing right heart failure.
327
What is the role of sildenafil in PPHN?
Phosphodiesterase-5 inhibitor, reduces pulmonary vascular resistance, often used in chronic PPHN or weaning from iNO.
328
What are the preventive strategies for PPHN?
Avoiding perinatal asphyxia, early recognition and management of respiratory distress, optimizing perinatal care.
329
What follow-up is required for neonates with PPHN?
Pulmonary and cardiac evaluation, neurodevelopmental assessment, regular growth monitoring, supportive therapy as needed.
330
What are the nutritional considerations for neonates with PPHN?
High-calorie feeds, careful fluid balance, nutritional support to prevent growth failure.
331
What are the indications for surgical intervention in PPHN?
Rare, but may include repair of underlying diaphragmatic hernia or other structural abnormalities.
332
What is the most likely diagnosis for a neonate presenting with seizures, apnea, and sudden unexplained collapse?
Neonatal Hypoxic-Ischemic Encephalopathy (HIE) – a form of brain injury caused by reduced oxygen and blood flow to the brain at or near the time of birth.
333
What are the common causes of HIE in neonates?
Perinatal asphyxia, placental abruption, umbilical cord prolapse, uterine rupture, maternal hypotension, severe neonatal anemia.
334
What are the hallmark clinical features of HIE?
Altered level of consciousness, abnormal tone, seizures, respiratory distress, poor feeding, hypotonia, abnormal reflexes.
335
What is the role of the Apgar score in evaluating HIE?
Provides a rapid assessment of neonatal condition at birth, but not specific for HIE diagnosis.
336
What imaging studies confirm the diagnosis of HIE?
Brain MRI (diffusion-weighted imaging), cranial ultrasound, head CT for acute hemorrhage, amplitude-integrated EEG (aEEG).
337
What is the initial management of HIE in neonates?
Therapeutic hypothermia, seizure control, respiratory support, fluid and electrolyte management, neuroprotective care.
338
What is the role of therapeutic hypothermia in HIE?
Reduces brain injury by slowing metabolic demand, limiting inflammation, and reducing cell death.
339
What are the criteria for therapeutic hypothermia in HIE?
Gestational age ≥36 weeks, moderate to severe encephalopathy, initiation within 6 hours of birth, evidence of perinatal asphyxia.
340
What are the long-term complications of HIE?
Cerebral palsy, intellectual disability, epilepsy, hearing loss, visual impairment, developmental delay.
341
What are the differential diagnoses for neonatal seizures?
Sepsis, hypoglycemia, hypocalcemia, intracranial hemorrhage, inborn errors of metabolism, drug withdrawal.
342
What are the criteria for discharge in a neonate with HIE?
Seizure control, stable vital signs, feeding tolerance, normal neurological exam, coordinated follow-up care.
343
What supportive measures are critical in managing HIE?
Temperature control, fluid management, prevention of hypoglycemia, monitoring for organ dysfunction.
344
What is the prognosis for infants with HIE?
Varies widely, better outcomes with mild HIE, significant risk of long-term neurological impairment with severe HIE.
345
What factors predict poor outcomes in HIE?
Severe initial encephalopathy, delayed initiation of therapeutic hypothermia, prolonged seizures, abnormal MRI findings.
346
What is the role of EEG in managing HIE?
Monitors seizure activity, assesses background brain function, guides treatment decisions.
347
What are the challenges in managing HIE during critical illness?
Multisystem involvement, risk of rapid neurological deterioration, need for intensive supportive care.
348
What is the role of genetic testing in HIE?
Usually not indicated unless metabolic or genetic disorders are suspected as the underlying cause.
349
What are the preventive strategies for HIE?
Optimal perinatal care, rapid recognition and management of fetal distress, appropriate resuscitation at birth.
350
What follow-up is required for neonates with HIE?
Regular neurological assessments, developmental evaluations, physical and occupational therapy, family support.
351
What is the most likely diagnosis for a neonate presenting with poor feeding, lethargy, jaundice, and hepatomegaly?
Neonatal Sepsis – a life-threatening systemic infection that can present with nonspecific symptoms such as poor feeding, lethargy, and jaundice.
352
What are the risk factors for neonatal sepsis?
Prematurity, low birth weight, prolonged rupture of membranes (>18 hours), maternal chorioamnionitis, invasive procedures, maternal GBS colonization.
353
What are the hallmark clinical features of neonatal sepsis?
Temperature instability, respiratory distress, poor feeding, lethargy, apnea, hypotension, jaundice, seizures.
354
What is the role of blood culture in diagnosing neonatal sepsis?
Gold standard for confirming bacteremia, guides antibiotic therapy, should be obtained before starting antibiotics.
355
What laboratory findings suggest neonatal sepsis?
Leukopenia or leukocytosis, elevated CRP, elevated procalcitonin, metabolic acidosis, thrombocytopenia, positive blood culture.
356
What is the initial management of neonatal sepsis?
Empirical IV antibiotics (ampicillin and gentamicin), fluid resuscitation, respiratory support, glucose management.
357
What are the differential diagnoses for neonatal sepsis?
Hypoxic-ischemic encephalopathy, metabolic disorders, congenital infections, congenital heart disease, hypoglycemia.
358
What is the role of lumbar puncture in neonatal sepsis?
Evaluates for meningitis, critical for guiding antibiotic therapy in late-onset sepsis or if neurologic symptoms are present.
359
What are the long-term complications of neonatal sepsis?
Neurodevelopmental delay, hearing loss, cerebral palsy, chronic lung disease, renal impairment.
360
What supportive measures are critical in managing neonatal sepsis?
Fluid management, respiratory support, temperature regulation, glucose monitoring, seizure control.
361
What factors predict poor outcomes in neonatal sepsis?
Prematurity, very low birth weight, delayed antibiotic therapy, severe initial presentation, multi-organ failure.
362
What are the preventive strategies for neonatal sepsis?
Maternal GBS screening, intrapartum antibiotic prophylaxis, strict hand hygiene, sterile procedures in the NICU.
363
What is the prognosis for neonates with sepsis?
Varies widely, better outcomes with early diagnosis and treatment, but high risk of long-term disability in severe cases.
364
What are the criteria for discharge in a neonate recovering from sepsis?
Clinical stability, negative follow-up cultures, adequate feeding, appropriate weight gain, parental education.
365
What is the role of empirical antibiotics in neonatal sepsis?
Covers the most common pathogens (e.g., GBS, E. coli, Listeria), adjusted based on culture results.
366
What is the role of prophylactic antibiotics in preventing neonatal sepsis?
Indicated in high-risk neonates (e.g., premature, prolonged rupture of membranes, maternal chorioamnionitis).
367
What are the challenges in diagnosing neonatal sepsis?
Nonspecific presentation, overlap with other neonatal conditions, need for rapid diagnostic tests.
368
What follow-up is required for neonates recovering from sepsis?
Neurodevelopmental assessment, hearing evaluation, growth monitoring, family support.
369
What is the significance of temperature instability in neonatal sepsis?
May indicate severe infection, requires urgent evaluation and treatment to prevent progression to septic shock.
370
What are the common pathogens causing early-onset neonatal sepsis?
Group B Streptococcus (GBS), E. coli, Listeria monocytogenes, Klebsiella species.
371
What is the most likely diagnosis for a neonate presenting with seizures, poor feeding, hypotonia, and respiratory distress?
Neonatal Hypoglycemia – a common metabolic disorder in neonates characterized by low blood glucose levels.
372
What are the risk factors for neonatal hypoglycemia?
Maternal diabetes, intrauterine growth restriction (IUGR), prematurity, perinatal asphyxia, sepsis, endocrine disorders.
373
What are the hallmark clinical features of neonatal hypoglycemia?
Jitteriness, lethargy, poor feeding, seizures, hypotonia, apnea, respiratory distress.
374
What laboratory findings confirm neonatal hypoglycemia?
Plasma glucose <45 mg/dL (<2.6 mmol/L), low ketones in hyperinsulinism, elevated insulin, low cortisol or growth hormone.
375
What is the initial management of neonatal hypoglycemia?
Immediate feeding or IV glucose, frequent glucose monitoring, continuous dextrose infusion if severe.
376
What are the differential diagnoses for neonatal hypoglycemia?
Congenital hyperinsulinism, adrenal insufficiency, hypopituitarism, glycogen storage diseases, fatty acid oxidation defects.
377
What is the role of critical sampling in neonatal hypoglycemia?
Measures insulin, cortisol, growth hormone, ketones, free fatty acids during hypoglycemia to identify the underlying cause.
378
What are the long-term complications of untreated neonatal hypoglycemia?
Seizures, developmental delay, intellectual disability, cerebral palsy, poor growth.
379
What is the role of diazoxide in neonatal hypoglycemia?
Inhibits insulin release, used in congenital hyperinsulinism, often combined with octreotide.
380
What are the preventive strategies for neonatal hypoglycemia?
Early feeding, glucose monitoring in high-risk infants, optimized maternal glycemic control.
381
What supportive measures are critical in managing neonatal hypoglycemia?
Temperature control, fluid and electrolyte management, seizure prevention, respiratory support if needed.
382
What factors predict poor outcomes in neonatal hypoglycemia?
Severe, prolonged hypoglycemia, delayed treatment, associated genetic or metabolic disorders.
383
What are the criteria for discharge in a neonate recovering from hypoglycemia?
Stable glucose levels, feeding tolerance, normal neurological exam, coordinated follow-up care.
384
What is the role of genetic testing in neonatal hypoglycemia?
Identifies genetic causes like congenital hyperinsulinism, glycogen storage diseases, fatty acid oxidation defects.
385
What are the dietary considerations for neonates with hypoglycemia?
Frequent feeds, continuous glucose infusion if needed, avoidance of prolonged fasting.
386
What is the significance of hypoglycemia in preterm infants?
Higher risk due to immature glucose regulation, reduced glycogen stores, and increased metabolic demand.
387
What are the challenges in managing neonatal hypoglycemia?
Frequent glucose monitoring, difficulty maintaining stable levels, risk of brain injury if untreated.
388
What is the role of glucagon in managing neonatal hypoglycemia?
Stimulates glycogenolysis and gluconeogenesis, used in acute management of severe hypoglycemia.
389
What follow-up is required for neonates recovering from hypoglycemia?
Growth monitoring, neurodevelopmental assessments, ongoing glucose monitoring if persistent risk.
390
What is the prognosis for neonates with neonatal hypoglycemia?
Excellent with early intervention, but risk of long-term neurological impairment if untreated or severe.
391
What is the most likely diagnosis for a neonate presenting with jaundice, hepatomegaly, and pale stools?
Biliary Atresia – a rare, life-threatening condition in neonates characterized by progressive fibrosis and obliteration of the extrahepatic bile ducts.
392
What are the hallmark clinical features of biliary atresia?
Prolonged jaundice, pale (acholic) stools, dark urine, hepatomegaly, poor weight gain, failure to thrive.
393
What are the key diagnostic tests for biliary atresia?
Abdominal ultrasound (absent or small gallbladder), liver function tests (elevated direct bilirubin), liver biopsy, intraoperative cholangiography.
394
What is the gold standard for diagnosing biliary atresia?
Intraoperative cholangiography – confirms the absence of bile flow from the liver to the intestine.
395
What is the initial management of biliary atresia?
Nutritional support, fat-soluble vitamin supplementation, early referral for surgical intervention (Kasai portoenterostomy).
396
What is the role of the Kasai procedure in biliary atresia?
Restores bile flow, delays liver cirrhosis, improves survival without liver transplantation if performed early.
397
What are the long-term complications of biliary atresia?
Cirrhosis, portal hypertension, liver failure, fat-soluble vitamin deficiencies, poor growth, need for liver transplantation.
398
What are the differential diagnoses for neonatal cholestasis?
Neonatal hepatitis, Alagille syndrome, cystic fibrosis, alpha-1 antitrypsin deficiency, progressive familial intrahepatic cholestasis (PFIC).
399
What are the indications for liver transplantation in biliary atresia?
Progressive liver failure, intractable pruritus, recurrent cholangitis, severe growth failure despite Kasai procedure.
400
What supportive measures are critical in managing biliary atresia?
Nutritional support, prevention of fat-soluble vitamin deficiencies, infection control, liver monitoring.
401
What factors predict poor outcomes in biliary atresia?
Late diagnosis, severe liver fibrosis, poor response to Kasai procedure, recurrent cholangitis, need for liver transplantation.
402
What is the prognosis for infants with biliary atresia after the Kasai procedure?
Varies widely, 60-80% may require liver transplantation by adolescence due to progressive liver disease.
403
What are the preventive strategies for liver disease in biliary atresia?
Early diagnosis, timely Kasai procedure, aggressive nutritional support, prevention of infections.
404
What are the key components of long-term follow-up for biliary atresia?
Regular liver function tests, growth monitoring, vitamin supplementation, early detection of complications.
405
What is the significance of pale stools in biliary atresia?
Reflects the absence of bile in the intestine, a hallmark sign of obstructed bile flow.
406
What is the role of genetic testing in biliary atresia?
Identifies syndromic associations (e.g., Alagille syndrome, cystic fibrosis) and guides family counseling.
407
What are the challenges in diagnosing biliary atresia?
Overlap with other causes of neonatal cholestasis, need for early surgical intervention, complex diagnostic workup.
408
What are the criteria for discharge in a neonate recovering from the Kasai procedure?
Stable liver function, adequate weight gain, parental education on vitamin supplementation and follow-up.
409
What follow-up is required for neonates with biliary atresia?
Regular liver function tests, growth monitoring, neurodevelopmental assessment, early detection of complications.
410
What is the role of ursodeoxycholic acid in biliary atresia?
Improves bile flow, reduces liver inflammation, delays progression to cirrhosis in some cases.
411
What is the most likely diagnosis for a neonate presenting with feeding intolerance, abdominal distension, and bloody stools?
Necrotizing Enterocolitis (NEC) – a life-threatening gastrointestinal emergency in neonates characterized by intestinal inflammation, necrosis, and perforation.
412
What are the key risk factors for NEC?
Prematurity, low birth weight, formula feeding, sepsis, respiratory distress syndrome, patent ductus arteriosus (PDA), maternal chorioamnionitis.
413
What are the hallmark clinical features of NEC?
Feeding intolerance, abdominal distension, bloody stools, temperature instability, apnea, metabolic acidosis.
414
What are the radiographic findings characteristic of NEC?
Pneumatosis intestinalis, portal venous gas, pneumoperitoneum (if perforation), dilated bowel loops.
415
What is the initial management of NEC?
Bowel rest (NPO), nasogastric decompression, broad-spectrum antibiotics, fluid resuscitation, total parenteral nutrition (TPN), respiratory support.
416
What are the stages of NEC based on Bell's criteria?
Stage I: Suspected, Stage II: Proven, Stage III: Advanced (severe systemic illness, perforation).
417
What are the indications for surgical intervention in NEC?
Perforation, worsening clinical status despite medical management, fixed abdominal mass, peritonitis.
418
What is the role of breast milk in preventing NEC?
Breast milk contains protective factors (e.g., IgA, growth factors, prebiotics) that reduce the risk of NEC.
419
What are the long-term complications of NEC?
Short bowel syndrome, intestinal strictures, malabsorption, cholestasis, neurodevelopmental impairment.
420
What are the differential diagnoses for NEC?
Sepsis with ileus, spontaneous intestinal perforation (SIP), cow's milk protein allergy, volvulus, Hirschsprung disease.
421
What supportive measures are critical in managing NEC?
Thermoregulation, fluid and electrolyte management, infection control, respiratory support, nutritional support.
422
What factors predict poor outcomes in NEC?
Low birth weight, severe initial presentation, delayed diagnosis, extensive bowel necrosis, need for surgery.
423
What are the preventive strategies for NEC?
Breastfeeding, delayed cord clamping, probiotic supplementation, minimal enteral feeding, avoiding rapid feed advancement.
424
What are the criteria for discharge in a neonate recovering from NEC?
Stable feeding, adequate weight gain, no signs of ongoing infection, family education on follow-up care.
425
What is the prognosis for neonates with NEC?
Varies widely, depends on severity and gestational age; higher mortality in preterm infants with extensive bowel involvement.
426
What is the significance of pneumatosis intestinalis in NEC?
Pathognomonic for NEC, indicates gas-producing bacteria within the bowel wall.
427
What is the role of probiotics in the prevention of NEC?
Reduces the risk of NEC and sepsis in preterm neonates, but use remains controversial in some settings.
428
What are the challenges in diagnosing NEC in preterm neonates?
Overlapping symptoms with sepsis, need for serial abdominal exams and imaging, variable clinical course.
429
What follow-up is required for neonates recovering from NEC?
Growth monitoring, nutritional support, neurodevelopmental assessment, early detection of intestinal strictures.
430
What is the role of surgery in the management of NEC?
Resection of necrotic bowel, creation of stomas, primary anastomosis in select cases, second-look laparotomy if needed.
431
What is the most likely diagnosis for a neonate presenting with respiratory distress, feeding difficulty, and a scaphoid abdomen?
Congenital Diaphragmatic Hernia (CDH) – a defect in the diaphragm allowing abdominal organs to herniate into the thoracic cavity.
432
What are the hallmark clinical features of congenital diaphragmatic hernia?
Severe respiratory distress, cyanosis, scaphoid abdomen, decreased breath sounds, shifted heart sounds, barrel-shaped chest.
433
What are the common types of congenital diaphragmatic hernia?
Bochdalek hernia (posterolateral, most common), Morgagni hernia (anterior), and central diaphragmatic defects.
434
What is the pathophysiology of respiratory distress in CDH?
Pulmonary hypoplasia, pulmonary hypertension, decreased lung compliance, impaired gas exchange.
435
What imaging studies confirm the diagnosis of CDH?
Chest X-ray (loops of bowel in the chest, mediastinal shift), prenatal ultrasound, fetal MRI for lung volume assessment.
436
What is the initial management of congenital diaphragmatic hernia in the delivery room?
Intubation, avoidance of bag-mask ventilation, gastric decompression, mechanical ventilation, transfer to NICU.
437
What is the role of ECMO in severe CDH?
Provides cardiopulmonary support in neonates with severe pulmonary hypertension and respiratory failure.
438
What are the surgical options for congenital diaphragmatic hernia?
Primary diaphragmatic repair, patch repair for large defects, minimally invasive approaches in select cases.
439
What are the long-term complications of CDH?
Chronic lung disease, pulmonary hypertension, gastroesophageal reflux, growth failure, neurodevelopmental delay.
440
What are the differential diagnoses for respiratory distress in neonates?
Respiratory distress syndrome, transient tachypnea of the newborn, congenital heart disease, sepsis, pneumothorax.
441
What are the criteria for discharge in a neonate with CDH?
Stable respiratory status, adequate feeding, weight gain, family education on long-term follow-up.
442
What supportive measures are critical in managing CDH?
Fluid management, nutritional support, pulmonary vasodilators, respiratory support, infection prevention.
443
What is the prognosis for infants with congenital diaphragmatic hernia?
Varies widely, dependent on lung hypoplasia severity, early intervention, and presence of other anomalies.
444
What factors predict poor outcomes in CDH?
Severe pulmonary hypoplasia, persistent pulmonary hypertension, associated congenital anomalies, delayed diagnosis.
445
What is the role of fetal intervention in CDH?
Fetal endoscopic tracheal occlusion (FETO) in severe cases to promote lung growth, experimental and high-risk.
446
What are the nutritional considerations for neonates with CDH?
High-calorie feeds, careful fluid balance, management of gastroesophageal reflux, long-term feeding support.
447
What is the role of genetic testing in CDH?
Identifies syndromic causes (e.g., Fryns syndrome, Pallister-Killian syndrome), guides family counseling.
448
What are the challenges in managing CDH during critical illness?
Severe pulmonary hypertension, risk of rapid decompensation, need for ECMO, complex surgical repair.
449
What follow-up is required for neonates with CDH?
Regular pulmonary and cardiac evaluation, neurodevelopmental assessment, nutritional support, growth monitoring.
450
What are the preventive strategies for pulmonary hypertension in CDH?
Early stabilization, lung protective ventilation, careful fluid management, pulmonary vasodilators if needed.
451
What is Retinopathy of Prematurity (ROP)?
A potentially blinding eye disorder that primarily affects premature infants, characterized by abnormal blood vessel growth in the retina.
452
What are the major risk factors for ROP?
Premature birth, low birth weight (<1500 g), prolonged oxygen therapy, mechanical ventilation, sepsis, anemia, blood transfusions.
453
What are the hallmark clinical features of ROP?
Usually asymptomatic in neonates, detected on retinal examination, severe cases may present with leukocoria, strabismus, or nystagmus later in life.
454
How is ROP classified?
Classified by location (zones I-III), extent (clock hours), stage (I-V), and presence of plus disease (dilated, tortuous vessels).
455
What is plus disease in ROP?
The presence of markedly dilated and tortuous retinal vessels, indicating severe, rapidly progressing ROP.
456
What is the role of screening in ROP?
Regular retinal examinations for at-risk preterm infants (≤30 weeks gestation or ≤1500 g birth weight) starting at 4-6 weeks postnatal age.
457
What is the initial management of ROP?
Observation for early stages, laser photocoagulation or intravitreal anti-VEGF injections for severe cases, surgical intervention for retinal detachment.
458
What are the indications for laser therapy in ROP?
Type 1 ROP (zone I, any stage with plus disease, or zone II, stage 2 or 3 with plus disease).
459
What is the role of anti-VEGF therapy in ROP?
Inhibits abnormal blood vessel growth, used in severe or aggressive ROP, particularly in zone I disease.
460
What are the potential complications of ROP treatment?
Retinal detachment, macular dragging, cataract formation, endophthalmitis, intraocular hemorrhage.
461
What are the long-term complications of untreated ROP?
Blindness, myopia, strabismus, retinal detachment, amblyopia, glaucoma.
462
What is the prognosis for infants with ROP?
Good if treated early, but severe disease can result in permanent vision loss or blindness.
463
What are the preventive strategies for ROP?
Careful oxygen monitoring, avoidance of hyperoxia, aggressive management of sepsis and anemia, use of caffeine for apnea.
464
What is the role of genetic factors in ROP?
Some genetic predisposition, but primarily influenced by prematurity and environmental factors.
465
What follow-up is required for infants recovering from ROP?
Regular ophthalmology assessments, vision screening, early intervention for visual impairment, family education.
466
What are the criteria for discharge in a neonate recovering from ROP?
Stable retinal findings, appropriate weight gain, parental understanding of follow-up requirements.
467
What are the challenges in managing ROP?
Need for regular screening, risk of rapid disease progression, high cost of laser and anti-VEGF therapy.
468
What is the significance of zone I involvement in ROP?
Associated with a higher risk of severe disease and poor visual outcomes, often requires early intervention.
469
What is the role of telemedicine in ROP screening?
Allows remote retinal imaging, improves access to screening in underserved areas, reduces need for in-person examinations.
470
What are the key components of long-term follow-up for ROP survivors?
Vision assessment, refractive error correction, strabismus evaluation, regular retinal examinations.
