Neonatal Medicine Flashcards
(114 cards)
1
Q
Define CLD
A
Infants who still have an oxygen requirement at a postmenstrual age of 36 weeks are
described as having BPD (bronchopulmonary dysplasia)
2
Q
Describe the pathophysiology of CLD
A
Describes the condition post-treatment of premature infants for RDS
- The lung damage is now thought to be mainly from delay in lung maturation, but may also be from pressure and volume trauma of artificial ventilation, oxygen toxicity and infection
- Pathology
- Result of a paradoxical combination of hypoxia and oxygen toxicity.
- There is initial capillary wall damage, interstitial fluid seepage and
ensuing pulmonary oedema, which is followed by loss of ciliated epithelium
and bronchiolar mucosal necrosis. - Areas of both hyperexpansion and
are seen. - This is followed by eosinophilic exudate and squamous metaplasia and may
ultimately lead to interstitial fibrosis/fibro-proliferative bronchiolitis.
3
Q
What are the investigations for CLD? What would you expect?
A
CXR: characteristically shows widespread areas of opacification (ill-defined reticular
markings), sometimes with cystic changes
4
Q
How do we manage CLD?
A
- Prophylaxis:
- Corticosteroids for women in suspected, diagnosed or established preterm labour <34 weeks (consider iff 34-36 weeks)
- Respiratory Support
- High flow oxygen
- Via nasal cannula or incubator oxygen
- CPAP
- Invasive ventilation
- Give surfactant
- High flow oxygen
- Medications
- Corticosteroids e.g. dexamethasone if ≥ 8 days old and on ventilator (may facilitate earlier weaning from ventilator, often lowers oxygen requirements in short term) - but risk of abnormal neurodevelopment including CP so only low short dose
-
Caffeine citrate
- If ≤ 30 weeks corrected gestational age. Start within 3 days of birth
- Consider if preterm and apneic
-
Nitric oxide
- Only if pulmonary hypoplasia or pulmonary hypertension
- Long-term Mx
- Mild: Gradually wean off oxygen prior to discharge, often wheezy for first 3 months
- Moderate:
- Go home on oxygen - facilitates gradual weaning
- Vaccinate against RSV (pavalizumab)
- Flu vaccine once > 6 months
- Severe
- Recurrent need for ventilation → arrest in lung development
- Somatic growth without lung growth
- Progressive further damage → cannot sustain life off ventilator
5
Q
Define cleft lip
A
o Results from failure of fusion of the frontonasal and maxillary processes
o May be unilateral or bilateral
6
Q
Define cleft palate
A
Results from failure of fusion of the palatine
7
Q
What causes a cleft lip and palate?
A
o May be a part of a syndrome e.g. chromosomal disorders
Most inherited polygenically
o Some are associated with maternal anticonvulsant therapy
8
Q
How do we manage a cleft lip and palate?
A
- Usually diagnosed antenatally - gives parents time to process, not a shock
- Cleft lip and palate MDT - early referral
- Paediatrician
- Orthodontist
- Speech and language therapist
- Dietician
- Audiologists
- Craniofacial surgeons
- Parent support groups (Cleft lip and palate association)
- Feeding
- Most babies will breast feed normally
- May require support e.g. dental plates
- Early feeding assessment and intervention may be required e.g. specialised teat/NG feed
- Potentially airway problem (Pierre-Robin sequence) - airway mx
- Pre surgical lip taping, oral appliances or pre-surgical nasal alveolar holding (PNAM) → narrow cleft
- Surgery
- Cleft lip: 3 months
- Cleft palate: 6-12 monthsº
9
Q
Define congenital diaphragmatic hernia
A
A congenital birth defect of the diaphragm in which the abdominal structures enter the thorax
10
Q
What is the most common type of diaphragmatic hernia?
A
The most common type is one in which a diaphragmatic opening on the posterior left side allows abdominal contents to protrude into the thorax
11
Q
When do diaphragmatic hernias get diagnosed?
A
Antenatally
12
Q
What is the incidence of diaphragmatic hernias?
A
1 in 4000 births
13
Q
What is the pathophysiology of diaphragmatic hernias?
A
Can result in pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth
Pathophysiology: failure of pleuroperitoneal canal to close completely
14
Q
What are the clinical features of diaphragmatic hernias?
A
o Neonates will have cyanosis and respiratory distress at birth
o Usually with failure to respond to resuscitation or respiratory distress
o Most common: left-sided herniation of abdominal contents through the posterolateral foramen of the diaphragm (Bochdalek hernia)
o This will cause the apex beat and heart sounds to be displaced to the right, with poor air entry in the left
o NOTE: vigorous resuscitation may cause a pneumothorax in the normal lung
15
Q
How is the diagnosis of diaphragmatic hernia confirmed?
A
Diagnosis is confirmed by X-ray→shows intestinal loops in the thorax
16
Q
How are diaphragmatic hernias managed?
A
Antenatal
o MDT with birth at neonatal surgical centre
Resuscitation after birth
o Intubate–avoid face mask to minimize gastric distention
o Positive pressure ventilation +/- HFOV
o Wide-bore NGtube (8Fr)
o IV and arterial access
o Sedation and muscle relaxation
oPersistent pulmonary hypertension of the New-born- Common and may require iNO
Surgery
o Delayed surgical repair → Stable and improving pulmonary hypertension
oDiaphragmatic defect is closed with primary repair or synthetic patch
ECMO - extracorporeal membrane oxygenation
o If pulmonary hypertension not improving
Mortality high if lungs hypoplastics
17
Q
Define Sudden Infant Death Syndrome.
A
Deaths that occur suddenly and unexpectedly in infants.
18
Q
What is the incidence of SIDS? How has it changed?
A
200 death in the UK in 2018. (0.3 deaths/1000 live births).
Incidence has fallen due to Back to Sleep campaign
19
Q
What happens in most cases of SIDS?
A
After 1 month of age, in most instances of sudden death in a previously well infant, no cause
is identified even after a detailed autopsy, and the death is classified as sudden infant death
syndrome (SIDS)
20
Q
What is the peak age of SIDS?
A
2-4 months but can occur throughout first year of life
21
Q
What are the RFs of SIDS? How can the be prevented?
A
- 55% boys
- LBW (5 fold increase)
- Mothers < 20 yrs (5 fold increase)
- Sleeping in same bed (should have separate cot in same room for first 6 months of life)
- Smoking during pregnancy
- Sleeping on sofa or armchair with infant
- Overheating by heavy wrapping and high room temperature (avoid by head should be uncovered and the blanket tucked in no higher than the shoulders)
- Baby in parents’ bed when they are tired, have taken alcohol, sedative medicines or drugs)
- If possible breastfeed infant (preventativ
22
Q
What do you do in the case of SIDS?
A
- Paediatrician to record a comprehensive account of resuscitation (if done), the history from paramedics (if brought in by ambulance) and finding on complete examination - including absence of signs of external injury
- Occasions police involvement and a member of police child protection team accompanies paediatrician who explains what has happened and takes a detailed hx from each of them
- Parents offered opportunity to see baby, hold it and photos + gather mementos
- Parents should be reassured that police involvement standard protocol
- Local coroner informed - postmortem performed by paediatric pathologists
- Multiagency information sharing meeting is convened to discuss death
23
Q
Define a large-for-gestational age infant.
A
Large-for-gestational-age (LGA) infants are those above the 90th weight centile for their gestation.
24
Q
What are large-for-date-infants features of?
A
Most are healthy, large infants, but it is a feature of infants of mothers with diabetes or a baby with certain genetic syndromes (e.g. Beckwith–Wiedemann syndrome).
25
What are the problems associated with large-for-date infants?
* birth trauma, especially from shoulder dystocia at delivery (difficulty delivering the shoulders from impaction behind maternal symphysis pubis) which can result in birth injuries, e.g. brachial plexus nerve injury or fractures
* birth asphyxia from a difficult delivery which may cause hypoxic brain injury or death
* hypoglycaemia due to hyperinsulinism
* polycythaemia
* breathing difficulty from an enlarged tongue in Beckwith–Wiedemann syndrome.
26
Define preterm. What are the subtypes?
Preterm = \< 37 weeks
o Near term = 34 – 36 weeks
o Extreme preterm = \< 28 weeks
27
What is the prognosis of preterm babies?
The appearance, likely clinical course, chances of survival and long-term prognosis depend on the gestational age at birth
o 23-25 weeks: encounter many problems, need many weeks of intensive care and have a high overall mortality
o \> 30 weeks’ gestation have an excellent prognosis
28
What are the causes of increased risk of preterm?
o Multiple pregnancies
o Asymptomatic intrauterine infection
o Preterm rupture of membranes – due to cervical incompetence
o Age \< 17 or \> 35 years
o Lower socio-economic status
o Over or underweight
o Smoking, alcohol abuse, drugs (especially cocaine)
o Uterine anomalies (bicornuate, septate)
o Cervical incompetence: previous terminations, late miscarriages or surgery
29
What are the common conditions in preterm?
o Need for resuscitation and stabilisation at birth
o Respiratory: RDS, CLD of prematurity (BPD), pneumothorax, apnoea
o Neurology: Intraventricular haemorrhage/periventricular leukomalacia
o GI: necrotising enterocolitis
o Cardiovascular: hypotension, patent ductus arteriosus,
o Metabolic: hypoglycaemia, hypocalcaemia, electrolyte imbalance, osteopaenia of prematurity
o Others: nutrition, infection, jaundice, retinopathy of prematurity, anaemia of prematurity, iatrogenic, inguinal hernias
30
Fill.
31
How should you maintain fluids and nutrition in preterm infants?
Parental involvement is still key in neonatal care e.g. mother can give baby expressed
breast milk in syringe via nasogastric tube, allowing close eye and skin contact
between mother and baby
Fluid balance: preterm infant’s fluid requirements can vary with gestational age
o Usually, 60-90ml/kg on 1st day of life increasing by 20-30 ml/kg per day to 150-180 ml/kg per day by about day 5 of life
32
How common is neonatal jaundice?
50% of all neonates become visibly jaundiced.
33
What causes physiological neonatal jaundice?
o Marked physiological release of haemoglobin from the breakdown of RBCs because of the high Hb concentration at birth
o Red cell life span of newborn infants is shorter than in adults (70 days vs 120 days)
o Hepatic bilirubin metabolism is less efficient in first few days of life
34
Why is it important to notice neonatal jaundice?
o May be a sign of another disease e.g. haemolytic anaemia, infection
o Unconjugated bilirubin can get deposited in the brain, especially in the basal ganglia→leading to kernicterus
35
Define Kernicterus.
encephalopathy resulting from deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei
36
What causes Kernicterus?
May occur when the level of unconjugated bilirubin exceeds the albumin-binding capacity of bilirubin of the blood→this free bilirubin is fat-soluble→can cross BBB
37
What are the acute manifestations of Kernicterus?
lethargy, poor feeding
38
How does Kernicterus present in severe cases?
irritability, increased muscle tone causing baby to lie with an arched back (opisthotonos), seizures, coma
39
What can be a consequence of developing Kernicterus?
Infants who survive may develop choreoathetoid cerebral palsy (due to damage of the basal ganglia), learning difficulties and sensorineural deafness
40
How has the incidence of Kernicterus changed in the recent years?
Kernicterus used to be an important cause of brain damage in infants with severe rhesus haemolytic disease, but has become rare because of the introduction of prophylactic anti-D immunoglobulin for Rh-negative (rhesus-negative) mothers.
However, a few cases of kernicterus continue to occur, especially in slightly preterm infants (35–37 weeks) and dark-skin-toned infants in whom jaundice is more difficult to detect.
41
At what stage do babies become clinically Jaundiced?
Babies become clinically jaundiced when the bilirubin level reaches about 80 μmol/l.
42
How do we classify neonatal jaundice?
* Jaundice \< 24 hrs of age
* Jaundice at 24 hrs to 2 weeks of age
* Jaundice \> 2 weeks of age
43
What are the causes of jaundice \< 24 hours of age?
Haemolytic disorders (usually results from Haemolysis - incredibly important to identify as the bilirubin is unconjugated and can rise very rapidly and reach extremely high levels.)
* Rh (rhesus) incompatibility
* ABO incompatibility
* G6PD deficiency
* Spherocytosis, pyruvate kinase deficiency
Congenital infection
44
1. When is rhesus haemolytic disease identified?
2. How does it present?
3. What other antibodies may develop?
1. Affected infants are usually identified antenatally and monitored and treated if necessary
2. The birth of a severely affected infant, with anaemia, hydrops and hepatosplenomegaly with rapidly developing severe jaundice, has become rare.
3. Antibodies may develop to rhesus antigens other than D and to the Kell and Duffy blood groups, but haemolysis is usually less severe.
45
1. How common is ABO incompatibility?
2. What type of antibodies are produced?
3. How does it present?
4. What test can be done?
5. When does it peak?
1. This is now more common than rhesus haemolytic disease.
2. Most ABO antibodies are IgM and do not cross the placenta, but some group O women have an IgG anti-A-haemolysin in their blood, which can cross the placenta and haemolyse the red cells of a group A infant. Occasionally, group B infants are affected by anti-B haemolysins.
3. Haemolysis can cause severe jaundice but it is usually less severe than in rhesus disease. The infant’s haemoglobin level is usually normal or only slightly reduced and, in contrast to rhesus disease, hepatosplenomegaly is absent.
4. The direct antibody test (Coombs test), which demonstrates antibody on the surface of red cells, is positive.
5. The jaundice usually peaks in the first 12 hours to 72 hours.
46
1. Who does G6PD deficiency tend to occur in?
2. What should parents be warned of?
1. Mainly in people originating in the Mediterranean, Middle-East and Far East or in Africa. Mainly affects male infants, but some females develop significant jaundice.
2. Parents of affected infants should be given a list of drugs to be avoided, as they may precipitate haemolysis.
47
1. How common is spherocytosis?
2. How is it diagnosed?
1. This is considerably less common than G6PD deficiency
2. There is often, but not always, a family history. The disorder can be identified by recognizing spherocytes on the blood film
48
How does congenital infection present?
Jaundice at birth can also be from congenital infection. In this case, the bilirubin is conjugated and the infants have other abnormal clinical signs, such as growth restriction, hepatosplenomegaly and thrombocytopenic purpura.
49
What are the causes of jaundice at 24 h to 2 weeks of age?
Physiological jaundice
Breast milk jaundice
Infection, e.g. urinary tract infection
Haemolysis, e.g. G6PD deficiency, ABO incompatibility
Bruising
Polycythaemia
Crigler–Najjar syndrome
50
What is physiological jaundice?
Most babies who become mildly or moderately jaundiced during this period have no underlying cause and the bilirubin has risen as the infant is adapting to the transition from fetal life.
The term ‘physiological jaundice’ can only be used after other causes have been considered.
51
1. How common is jaundice due to breast milk
2. What type of bilirubinaemia do these patients have?
3. What causes it?
4. How long does it last?
Jaundice is more common and more prolonged in breastfed infants.
The hyperbilirubinaemia is unconjugated.
The cause is multifactorial but may involve increased enterohepatic circulation of bilirubin.
The condition is benign and the jaundice may last up to 12 weeks.
52
1. How does dehydration occur in neonates?
2. What is the management of this jaundice?
In some infants, the jaundice is exacerbated if milk intake is poor from a delay in establishing breastfeeding and the infant becomes dehydrated (\>10% weight loss from birthweight).
Breastfeeding should be continued; feeding may be improved with advice and support. In some infants, nasogastric fluids are needed to correct dehydration.
53
1. How would an infected baby present \>24hrs age?
2. How should this jaundice be managed?
1. An infected baby may develop an unconjugated hyperbilirubinaemia from poor fluid intake, haemolysis, reduced hepatic function and an increase in the enterohepatic circulation.
2. If infection is suspected, appropriate investigations and treatment should be instigated. In particular, urinary tract infection may present in this way.
54
What are the rare causes of jaundice \>24 hrs and \< 2 weeks of age? Describe them briefly.
Although jaundice from haemolysis usually presents in the 1st day of life, it may occur during the 1st week.
Bruising following delivery and polycythaemia (venous haematocrit is \>0.65) will exacerbate the infant’s jaundice.
The very rare Crigler–Najjar syndrome, in which glucuronyl transferase is deficient or absent, may result in extremely high levels of unconjugated bilirubin.
55
What are the causes of Jaundice at \>2 weeks of age? What is this type of jaundice called?
* Unconjugated:
* Physiological or breast milk jaundice
* Infection (particularly urinary tract)
* Hypothyroidism
* Haemolytic anaemia, e.g. G6PD deficiency
* High gastrointestinal obstruction, e.g. pyloric stenosis
* Conjugated (\>25 μmol/l):
* Bile duct obstruction
* Neonatal hepatitis
Jaundice in babies \>2 weeks old (3 weeks if preterm) is called persistent or prolonged neonatal jaundice, and needs to be evaluated differently from jaundice at an earlier age.
56
How do we characterise jaundice at \>2 weeks of age?
* Prolonged unconjugated hyperbilirubinaemia
* Prolonged conjugated hyperbilirubinaemia
57
What are the causes of prolonged unconjugated hyperbilirubinaemia?
* **‘breast milk jaundice’** is the most common cause, affecting up to 15% of healthy breastfed infants; the jaundice gradually fades and disappears by 12 weeks of age
* **infection**, particularly of the urinary tract, needs to be considered if the infant is unwell
* **congenital hypothyroidism** may cause prolonged jaundice before the clinical features of coarse facies, dry skin, hypotonia and constipation become evident. Affected infants should be identified on routine neonatal biochemical screening (Guthrie test).
58
What causes prolonged conjugated hyperbilirubinaemia? What are the clinical features?
Conjugated hyperbilirubinaemia (\>25 μmol/l) is suggested by the baby passing dark urine and unpigmented pale stools. Hepatomegaly and poor weight gain are other clinical signs that may be present.
Its causes include neonatal hepatitis syndrome and biliary atresia, with improved prognosis of biliary atresia with early diagnosis.
* Neonatal hepatitis syndrome
* Congenital infection
* Inborn errors of metabolism
* Alpha-1 antitrypsin deficiency
* Galactosemia
* Tyrosinaemia (type 1)
* Inborn errors of bile acid synthesis
* Progressive familial intrahepatic cholestasis
* Cystic fibrosis
* Intestinal failure-associated liver disease (associated with long-term parenteral nutrition)
59
How do we assess neonatal jaundice?
• Assessment
o Visually inspect the baby in natural light
o Measure Bilirubin
▪ ALWAYS measure bilirubin in any neonate presenting with clinical jaundice
▪ Use serum bilirubin - if jaundice developed in the first 24 hours of life or if the gestational age is \< 35 weeks
▪ In babies born \> 35 weeks or with jaundice that develops after the first 24 hours - use a transcutaneous bilirubinometer
• If the result is \> 250 micromol/L, check the result by measuring serum bilirubin
▪ Bilirubin marked on a bilirubin chart
* Bilirubin charts are based on gestation baby was born at → mark age to closest hour
* On line and above = treat
* Do not treat if just below cut-off line
* Phototherapy cut off: 350 umol/L
* Exchange transfusion cut off: 450 umol/L
o Assess risk of developing kernicterus
▪ Increased risk if:
Serum bilirubin \> 340 micromol/L in babies \> 37 weeks gestation
Rapidly rising bilirubin of \> 8.5 micromol/L per hour
Clinical features of acute bilirubin encephalopathy
o Serum bilirubin should be measured every 6 hours until it drops below the treatment threshold or becomes stable/falling
60
How should we investigate the underlying cause of neonatal jaundice?
o Measure haematocrit
o Blood group of mother and baby
o DAT test (Coombs)
▪ If the mother is Rh-negative, find out whether the mother received prophylactic anti-D immunoglobulin during pregnancy
o Consider the following tests:
▪ FBC and blood film (e.g. looking for hereditary spherocytosis)
▪ Blood G6PD levels (consider ethnic origin)
▪ Microbiological cultures of blood, urine and/or CSF (if suspected infection)
61
How should we think about neonatal jaundice management?
* Physiological jaundice
* Pathological unconjugated
* Pathological conjugated
* Breast milk jaundice
62
What is this?
Bilirubin chart of bilirubin level and time from birth. It also shows the threshold for starting phototherapy and need to perform an exchange transfusion. Charts vary with gestational age; this is for infants ≥ 38 weeks gestational age. Plotting the bilirubin values, as shown for this infant with ABO incompatibility, allows the rate of rise to be readily determined and if preparation needs to be made for an exchange transfusion.
63
How should we treat physiological jaundice?
o Reassurance and observation
64
How should we treat unconjugated pathological jaundice?
o Acute bilirubin encephalopathy:
1. **Immediate exchange transfusion**
2. Phototherapy
3. Hydration
4. IVIG
o Total bilirubin \>95th centile for phototherapy (plot level on treatment graph)
**1. Phototherapy**
2. Hydration
o Total bilirubin \>95th centile for exchange transfusion (plot level on treatment graph)
1. **Exchange transfusion**
2. Phototherapy
3. Hydration
4. IVIG
65
How should we treat conjugated pathological jaundice?
Treat underlying cause - e.g. surgery for biliary atresia
66
How should we treat breast milk jaundice?
o Breast feeding can usually continue as normal
o Use bilirubin levels to direct management
67
†What is phototherapy? What are the side effects?
Light (wavelength 450 nm) from the blue–green band of the visible spectrum converts unconjugated bilirubin into a harmless water-soluble pigment excreted predominantly in the urine.
It is delivered with an overhead light source placed at an optimal distance above the infant to achieve high irradiance. Although no long-term sequelae of phototherapy from overhead light have been reported, it is disruptive to normal care of the infant and should not be used indiscriminately.
The infant’s eyes are covered, as bright light is uncomfortable. Phototherapy can result in temperature instability as the infant is undressed, a macular rash, and bronze discoloration of the skin if the jaundice is conjugated.
68
Summarise the counselling for neonatal jaundice.
69
What is a TORCH infection?
An infection of the developing fetus or newborn that can occur in [utero](https://www.osmosis.org/learn/Anatomy_of_the_female_reproductive_organs_of_the_pelvis), during delivery, or after birth. It can be caused by any one of a group of infectious agents indicated in the acronym TORCH:
**T**oxoplasma gondii
**O**ther agents, such as [Treponema pallidum](https://www.osmosis.org/learn/Perinatal_infections:_Clinical_practice), [varicella zoster virus](https://www.osmosis.org/learn/Varicella_zoster_virus) (VZV), [parvovirus B19](https://www.osmosis.org/learn/Parvovirus_B19), and [human immunodeficiency virus](https://www.osmosis.org/learn/HIV_(AIDS)) ([HIV](https://www.osmosis.org/learn/HIV_(AIDS)))
**R**ubella
**C**ytomegalovirus (CMV)
**H**erpes simplex virus (HSV)
70
How common are TORCH disorders?
In general, TORCH infections are responsible for 2 to 3% of all congenital disorders, or disorders present at birth.
71
What are the consequences of TORCH infections?
These infections can cause a variety of complications, including [preterm birth](https://www.osmosis.org/learn/Preterm_labor), delayed development of the fetus (i.e., [intrauterine growth restriction](https://www.osmosis.org/learn/Intrauterine_growth_restriction)), physical malformations (e.g., [deafness](https://www.osmosis.org/learn/Anatomy_clinical_correlates:_Ear), [patent ductus arteriosus](https://www.osmosis.org/learn/Patent_ductus_arteriosus)), and sometimes, loss of the pregnancy.
72
What are the clinical features of TORCH infections?
Regardless, TORCH infections can share some non-specific signs and symptoms.
* Early signs in the fetus or newborn may include fever, development of a small [head](https://www.osmosis.org/learn/Introduction_to_the_skeletal_system) (i.e., microcephaly), low birth weight, [lethargy](https://www.osmosis.org/learn/Anergy,_exhaustion,_and_clonal_deletion) or sleepiness, [cataracts](https://www.osmosis.org/learn/Cataract), [hearing loss](https://www.osmosis.org/learn/Anatomy_clinical_correlates:_Ear), and congenital heart disease.
* Additionally, some newborns may present with hepatosplenomegaly, or the enlargement of the liver and [spleen](https://www.osmosis.org/learn/Spleen_histology).
* Infected newborns can also appear to have reddish-brown spots on their skin (i.e., [petechiae](https://www.osmosis.org/answers/petechiae) or [purpura](https://www.osmosis.org/answers/solar-purpura)), a yellowish pigmentation of the skin and eyes (i.e., [jaundice](https://www.osmosis.org/learn/Jaundice)), or the "blueberry muffin" rash, which appears as bluish or purplish marks on the baby’s [body](https://www.osmosis.org/answers/fruiting-body-of-aspergillus).
* Late signs, usually occurring after the age of 2, may include vision impairment or loss, [intellectual disability](https://www.osmosis.org/learn/Developmental_and_learning_disorders:_Pathology_review), [deafness](https://www.osmosis.org/learn/Anatomy_clinical_correlates:_Ear), and [seizures](https://www.osmosis.org/learn/Nervous_system:_Seizures_and_strokes).
73
What are the investigations of TORCH infections?
* A history of maternal infections during pregnancy is key for the early detection of a TORCH infection.
* Imaging and tests can also be key to prenatal diagnosis.
* A prenatal ultrasound can indicate unusual fetal findings, such as the enlargement of the ventricles in the fetus’ brain (i.e., ventriculomegaly), intracranial calcifications, and [fetal growth restriction](https://www.osmosis.org/learn/Intrauterine_growth_restriction) or retardation.
* Prenatal diagnosis of [congenital toxoplasmosis](https://www.osmosis.org/learn/Congenital_toxoplasmosis), [congenital syphilis](https://www.osmosis.org/learn/Congenital_syphilis), and [parvovirus B19 infection](https://www.osmosis.org/learn/Congenital_TORCH_infections:_Pathology_review) can be confirmed through a [polymerase chain reaction](https://www.osmosis.org/learn/Polymerase_chain_reaction_(PCR)_and_reverse-transcriptase_PCR_(RT-PCR)) (PCR) test, which evaluates DNA samples usually obtained from the amniotic fluid surrounding the fetus during pregnancy.
* Congenital CMV can be diagnosed prenatally by a viral culture, DNA detection on a PCR test, or by CMV-specific immunoglobulin M (IgM) antibody measurement. Similarly, prenatal diagnosis of [rubella](https://www.osmosis.org/learn/Rubella_virus) is usually based on positive rubella-specific IgM testing. Finally, [HSV infection](https://www.osmosis.org/learn/Sexually_transmitted_infections:_Clinical_practice)can be detected prenatally through viral cultures or PCR testing.
* Diagnosis of infection after the infant is delivered, or postnatally, is primarily based on physical examination of the infant and a review of signs and symptoms. Similar to prenatal diagnosis, specific diagnoses can be confirmed through viral cultures, PCR testing, and antibody measurement.
* Additional tests that can be performed include brain computed tomography (CT) scans to look for brain lesions, [hydrocephalus](https://www.osmosis.org/learn/Hydrocephalus:_Nursing_Process_(ADPIE)), and intracranial calcifications. Eye tests can reveal [cataracts](https://www.osmosis.org/learn/Cataract) or other eye problems, and hearing tests can investigate for [hearing loss](https://www.osmosis.org/learn/Anatomy_clinical_correlates:_Ear).
74
What is toxoplasmosis gondii? What does infection result in?
[Toxoplasma gondii](https://www.osmosis.org/learn/Toxoplasma_gondii_(Toxoplasmosis)) is a protozoan parasite that is primarily transmitted through consumption of undercooked meats or exposure to cat feces. It can result in [toxoplasmosis](https://www.osmosis.org/learn/Congenital_toxoplasmosis), which may present as fever and fatigue in the mother.
If passed to a fetus or infant, toxoplasmosis may cause inflammation of the [choroid](https://www.osmosis.org/learn/Anatomy_of_the_eye) and [retina](https://www.osmosis.org/learn/Anatomy_of_the_eye) in the eye (i.e., chorioretinitis), a buildup of fluid in the brain (i.e., [hydrocephalus](https://www.osmosis.org/learn/Hydrocephalus:_Nursing_Process_(ADPIE))), rash, and intracranial calcifications.
75
What is rubella? What does it cause?
In the case of [rubella](https://www.osmosis.org/learn/Rubella_virus), a mother may become infected if they are exposed to the [rubella virus](https://www.osmosis.org/learn/Rubella_virus) through direct contact with infected saliva, mucus, or air droplets.
In the mother, rubella may present with mild symptoms: [swollen lymph nodes](https://www.osmosis.org/answers/cervical-lymphadenopathy)(i.e., [lymphadenopathy](https://www.osmosis.org/answers/cervical-lymphadenopathy)), polyarthritis, or rashes. However, rubella that is transmitted to a developing fetus during pregnancy can result in [congenital rubella syndrome](https://www.osmosis.org/learn/Congenital_rubella_syndrome), which is characterized by [deafness](https://www.osmosis.org/learn/Anatomy_clinical_correlates:_Ear), clouding of the eyes (i.e., [cataracts](https://www.osmosis.org/learn/Cataract)), rash, and heart defects.
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What is CMV? What does it cause?
Like rubella, [cytomegalovirus](https://www.osmosis.org/learn/Cytomegalovirus) (CMV) can be transmitted through direct contact with infected bodily fluids, including saliva, tears, mucus, semen, and [vaginal](https://www.osmosis.org/learn/Anatomy_of_the_female_reproductive_organs_of_the_pelvis) fluids.
Although symptoms of CMV are generally mild for adults, a congenital CMV infection in a developing fetus can present with rashes, deafness, inflammation of the eye (i.e., chorioretinitis), [seizures](https://www.osmosis.org/learn/Nervous_system:_Seizures_and_strokes), an unusually small [head](https://www.osmosis.org/learn/Introduction_to_the_skeletal_system) (i.e., microcephaly), and intracranial calcifications.
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What does HSV infection in neonate cause?
The [herpes simplex virus](https://www.osmosis.org/learn/Herpes_simplex_virus) (HSV) is very contagious, and the two types of the virus can be transmitted in two ways. HSV-1, also called [oral herpes](https://www.osmosis.org/learn/Herpes_simplex_virus), can be transmitted through the exchange of oral secretions (e.g., kissing, sharing utensils, sharing drinks, etc.), while HSV-2 is a sexually transmitted disease.
HSV usually infects a newborn during passage through the birth canal. In infants, HSV can cause blisters and inflammation of the brain, known as meningoencephalitis.
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How do you manage toxoplasmosis in the newborn?
* Symptomatic babies
* **Pyrimethamine** + **Sulfadiazine** + **Folinic acid**
* Continue all 3 for 1 year
* Monitor LFTs and FBCs every 4-6 weeks
* Asymptomatic babies with positive serology
* No definitive guidelines present as treatment is controversial
* Discuss individual cases with infection and virology specialists
* Ophthalmology and audiology assessment recommended
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How should you manage rubella?
While there is no specific antiviral therapy for [rubella](https://www.osmosis.org/learn/Rubella_virus), supportive treatment may involve screening for hearing and vision issues, as well as surgery to correct any heart defects.
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How do you treat CMV in the newborn?
* Urine or salivary PCR for CMB
* Definitive test for congenital CMV if done in first 2 weeks of life
* CMV usually has no long-term implications
* Barrier nursing
* As CMV is shed in urine and body secretions
* Anti-virals for 6 months if:
* CNS infection
* Acutely unwell
* Oral valganciclovir preferred, if concerns with absorption, then give ganciclovir
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How should you treat HSV in the mother and newborn?
If the mother is identified as having primary disease or genital herpetic lesions at the time of delivery, **Caesarean section** is indicated
If primary infection occurs earlier in the pregnancy, offer prophylactic oral aciclovir from 36 weeks until delivery
**Aciclovir** or **valaciclovir** can be given prophylactically to the baby during the at-risk period
Suspected symptomatic neonatal infection
o Blood and CSF PCR
o IV acyclovir
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How is Listeria infection transferred?
Uncommon but serious
Organism is transmitted to the mother through food (e.g. unpasteurised milk, soft cheeses and undercooked poultry
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What can Listeria infection cause?
It often causes mild influenza-like illness in the mother
It can pass to the foetus through the placenta
Maternal infection could lead to:
o Spontaneous abortion
o Preterm delivery
o Foetal/neonatal sepsis
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What are the clinical features of Listeria infection?
Characteristic clinical features:
o Meconium staining of the amniotic fluid (unusual in preterm infants)
o Widespread rash
o Septicaemia
o Pneumonia
o Meningitis
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What is the management of Listeria infection?
• Amoxicillin and gentamicin
o If blood cultures or CSF comes back as positive for Listeria
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What are babies from mother who are Hep B positive are at risk of?
Infants of mothers who are HbsAg positive should receive the hepatitis B vaccination shortly after birth to prevent vertical transmission
Babies are at highest risk of becoming chronic carriers when their mothers are e-antigen positive but have no e-antibodies
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What is the management of Hep B infection in the neonate?
* • Infants of mothers who are HBsAg positive should receive exposure immunization schedule:
* o**Monovalent Hepatitis B vaccine** within 24 hours of birth (also at 4 weeks and 1 year of age)
* Hexavalent vaccine (DT/aP/IPV/Hib/HepB) at usual times (8, 12 and 16 weeks)
* **HBIG** should be given to the neonate if:
o Mother is HBs Ag positive (even if she is HBeAg negative)
o Mother had acute hepatitis B during pregnancy
o Mother had an HBV DNA level equal or above 1x10^6IUs/ml in any antenatal sample during the current pregnancy
* HBIG should be ideally given simultaneously as initial Hep B vaccine, but at a different site
* Acute Hep B infection: supportive care
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CLD - ill defined reticular markings
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What illnesses does the guthrie test for?
* SCD
* CF
* Congenital hypothyroidism
* Inherited metabolic disease
* [phenylketonuria (PKU)](https://www.nhs.uk/conditions/phenylketonuria/)
* [medium-chain acyl-CoA dehydrogenase deficiency (MCADD)](https://www.nhs.uk/conditions/mcadd/)
* [maple syrup urine disease (MSUD)](https://www.nhs.uk/conditions/maple-syrup-urine-disease/)
* [isovaleric acidaemia (IVA)](https://www.nhs.uk/conditions/isovaleric-acidaemia/)
* [glutaric aciduria type 1 (GA1)](https://www.nhs.uk/conditions/glutaric-aciduria/)
* [homocystinuria (pyridoxine unresponsive) (HCU)](https://www.nhs.uk/conditions/homocystinuria/)
* SCID
*
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Key features: Patau Syndrome
* **Trisomy 13**
* Microcephalic, small eyes
* Cleft lip/palate
* Polydactyly
* Scalp lesions
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Key features: Edward's syndrome
* Trisomy 18
* Micrognathia
* Low-set ears
* Rocker bottom feet
* Overlapping of fingers
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Key features: Fragile X
* Learning difficulties
* Macrocephaly
* Long face
* Large ears
* Macro-orchidism
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Key features: Noonan syndrome
* Webbed neck
* Pectus excavatum
* Short stature
* Pulmonary stenosis
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Key features: Pierre Robin Syndrome
* Micrognathia
* Posterior displacement of the tongue (may result in upper airway obstruction)
* Cleft palate
\*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems
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Key Features: Prader-Willi syndrome
Hypotonia
Hypogonadism
Obesity
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Key Features: William's syndrome
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
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Key features: Cri du Chat syndrome
(chromosome 5p deletion syndrome)
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
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Define Hypoxic-Ischaemic Encephalopathy.
Brain injury caused by oxygen deprivation to the brain - Also known as intrapartum asphyxia
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Describe the pathophysiology of HIE
* In perinatal asphyxia, gas exchange, either placental or pulmonary, is compromised or
ceases altogether → leads to cardiopulmonary depression → Hypoxia, hypercarbia and respiratory acidosis follow
* Most cases occur following a significant hypoxic event immediately before or during
labour or delivery, such as:
* Failure of gas exchange across the placenta (excessive or prolonged uterine
contractions, placental abruption, ruptured uterus)
* Interruption of umbilical blood flow (e.g. cord compression including shoulder
dystocia, cord prolapse)
* Inadequate maternal placental perfusion, maternal hypotension and
hypertension
* Compromised foetus (anaemia, IUGR)
* Failure of cardiorespiratory adaptation at birth (failure to breathe)
* Neuronal damage in HIE may be immediate from primary neuronal death or may be
delayed from reperfusion injury causing secondary neuronal death from secondary
energy failure
* Reperfusion injury: tissue damage caused when blood supply returns to tissue
after a period of ischaemia. The absence of oxygen and nutrients from blood
during the ischaemic period creates a condition in which the restoration of
circulation results in inflammation and oxidative damage through the
induction of oxidative stress rather than (or along with) restoration of normal
function
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Describe the epidemiology of HIE.
* High income countries - 0.5-3/1000 live born term develop HIE
* 0.3/1000 - significant neuro-disability
* Incidence in low income countries - higher
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What are the clinical features of HIE?
• Clinical manifestations of HIE start up to 48 hours after asphyxia and can be graded:
o MILD - infant is irritable and responds excessively to stimulation, may have
staring eyes, hyperventilation, hypertonia and impaired feeding
o MODERATE - infant shows marked abnormalities of movement, hypotonic,
cannot feed and may have seizures
o SEVERE - NO normal spontaneous movements or response to pain, tone in limbs may fluctuate between hypotonia to hypertonia, seizures are often prolonged and refractory to treatment, multi-organ failure present
• HIE is characterised by fetal distress, metabolic acidosis and the need for artificial ventilation from birth
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What are the investigations of HIE?
Examination
Birth hx
• Cord blood samples: for umbilical arterial and venous blood gases
• Gross examination of placenta to assess for contributing cause
• FBC – exclude infection, haemorrhage and/or thrombocytopenia
• ABG
• Serum calcium, glucose, magnesium and electrolytes
• LFTs and creatinine – to assess organ damage
• Blood cultures – exclude sepsis
• Amplitude-integrated electroencephalography (aEEG) to monitor electrical activity,
useful to confirm encephalopathy and identify seizures
• Cranial ultrasound
o Brain MRI may be done at 4-7 days of age – helps determine pathogenesis and prognosis
• Test for inborn errors of metabolism to rule out metabolic cause
• LP if concern of intracranial infection
• A variety of scales have been used to measure the degree of disability among children who survive HIE, including Psychomotor Development Index, the Bayley Mental
Development Index and the Gross Motor Function Classification System
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How should we manage HIE?
• Resuscitation and stabilisation
• Respiratory support (intubate) – maintain adequate
ventilation
• Treat clinical seizures with anticonvulsants (IV
phenobarbitone if \>3 min, \>3/hour or compromise)
• Fluid restriction due to transient renal impairment and risk
of cerebral oedema
• Monitor and treat hypoglycaemia, electrolyte imbalance
especially hypocalcaemia
• Treatment of choice for HIE is THERAPEUTIC
COOLING
o Therapeutic cooling maintained for 72 hours at 33-
35 degrees and started within first 6 hours after
delivery is only proven neuroprotective therapy
for HIE
o Infant is wrapped in a cooling blanket
o Rectal temperature maintained at 33-35
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What is the criteria for therapeutic hypothermia in HIE?
* Gestational age ≥ 36 weeks and
≤6 hours of age
* Metabolic or mixed acidosis
with a pH of ≤7.0 or a base
deficit of ≥ 16mmol/L in a
sample of umbilical cord blood
or any blood obtained within
first hour after birth
* One of the following:
▪ 10 minute Apgar score
of ≤ 5
▪ Ongoing resuscitation
initiated at birth and
continued for at least
10 minutes
* Moderate to severe
encephalopathy on clinical
examination
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What is the prognosis of HIE?
o Mild HIE: a full recovery can be expected
o Moderate HIE, who have recovered fully on neurological examination and are
feeding normally by 2 weeks of age have an excellent long-term prognosis
o Severe HIE has a mortality of 30-40%
o Of the survivors of severe HIE, 80% have neurodevelopmental disabilities,
particularly cerebral palsy
o If MRI shows significant abnormalities at 5-14 days, there is a very high risk
of later cerebral palsy
▪ E.g. abnormal signal in basal ganglia and thalami, and absence of
signal in internal capsules
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Define Necrotising enterocolitis.
A condition in which a portion of the intestinal tract suffers damage, which can range from mucosal injury to full-thickness necrosis and perforation
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When is necrotising enterocolitis seen? What is the incidence proportional to?
Incidence increases with increasing prematurity
Typically seen in first few weeks of life
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Describe the pathophysiology of necrotising enterocolitis.
The aetiology poorly understood, thought o be due to:
* Ischaemic injury
* Bacterial invasion o the bowle wall
* Altered gut biome - improves with breast milk and adversely affected by formula feeds
* Rapidly increased in enteral feeds and antibiotics
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What are the RFs behind necrotising enterocolitis?
o Low gestation
o Low birth weight
o IUGR
o Compromised gut perfusion: twin to twin transfusion, IUGR, large PDA
o Feeding
▪ Preterm infants fed cow’s milk formula are more likely to develop this condition than those fed breast milk
▪ Supplementing milk with prebiotics and probiotics may also be beneficial
▪ Risk reduced with breast milk and early trophic feeds (increasing very gradually)
o Infection
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What are the clinical features of necrotising enterocolitis?
Early signs
o Feed intolerance
o Quiet
o Vomiting – may be bile-stained
o Distended abdomen
o Stool may contain fresh blood
Infant may rapidly become shocked with abdominal discolouration (dark), intestinal perforation and systemic hypotension needing mechanical ventilation
Note: modified Bell’s staging criteria is used for necrotising enterocolitis o Involves systemic, intestinal and radiologic signs
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What are the investigations for necrotising enterocolitis?
• Abdominal X-ray
o **Distended loops** of bowel
o Thickening of bowel wall with i**ntramural gas (tramlines)**
o Paucity of gas: **gasless abdomen**
o There may be gas in portal venous tract
o Pneumatosis intestinalis (intramural gas): pathognomic of NEC, gas cysts in bowel wall
• If disease progresses to bowel perforation→can be detected by X-ray or by transillumination of the abdomen
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What is the management of necrotising enterocolitis?
1. Stop oral feeding (NBM)
1. Parenteral nutrition
2. For confirmed cases - stop feeding for 7 ddays
2. Broad spectrum antibiotics
1. Cover both aerobic and anaerobic organisms
2. e.g. cefotaxime and vancomycin
3. Respiratory support - may require high ventilation pressures due to abdominal distension
4. Fluids - CV support
5. Surgery
1. Indicated if:
1. Perforation
2. Failure to respond to medical treatment
2. Laparotomy with resection of necrosed bowel with either a primary anastomosis or a defunctioning stoma
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What is the prognosis of necrotising enterocolitis?
Long-term consequences include the development of strictures and malabsorption if extensive bowel resection is necessary (short gut syndrome), as well as greater risk of poor neurodevelopmental outcome
Morbidity and mortality 20%
