Neonatal Medicine Flashcards
A 2-week-old baby was referred to the prolonged jaundice clinic by the community midwife. The pregnancy was unremarkable, and she was born at term with no antenatal abnormalities on ultrasound (US) scans or blood serology. She is now 17 days old and has been jaundiced since day 5 of life and never required phototherapy. She is breastfed and feeds 3-hourly for 20–25 minutes. She is afebrile and not lethargic. Her mother reports that the stools are pale and she has dark coloured urine. The bilirubin is 300 μmol/L, and conjugated bilirubin 100 μmol/L. What is the most important diagnosis to exclude?
A. Breast milk jaundice
B. ABO incompatibility
C. Biliary atresia
D. Neonatal hepatitis
E. Hypothyroidism
C. Biliary atresia
1 CJaundice is important in neonates, particularly the timing of onset and duration. Jaundice in the first 24 hours may be due to haemolysis either immune (ABO incompatibility or rhesus disease) or non-immune (G6PD, spherocytosis) and is unconjugated; therefore (B) is incorrect. Jaundice between 24 hours and 2 weeks can be physiological as the phenomenon of breast milk jaundice (A) but should not persist. Hypothyroidism is very important to exclude in the neonate due to the potential learning difficulties that can ensue, but it is unlikely to present with acholic stools. Neonatal hepatitis (D) can be secondary to infection (congenital) or metabolic diseases (alpha-1-santitrypsin, cystic fibrosis), but with the history of pale stools and dark urine a diagnosis of biliary atresia (C) must be fully investigated due to the risk of liver cirrhosis.
A 1-day-old baby is on the post-natal ward. You are asked to review her as she is febrile and lethargic. On examination she is tachycardic, has a capillary refill time of 3 seconds centrally and reduced urine output. Her blood culture 24 hours later grows Gram-positive cocci. Which is the most likely causative organism?
A. Streptococcus pneumoniae
B. Staphylococcus aureus
C. Group B Streptococcus
D. Streptococcus viridans
E. Group A Streptococcus
C. Group B Streptococcus
2 CGroup B Streptococcus (GBS) (C) can colonize the reproductive tract of women. When babies are delivered through this tract, they can become infected with GBS. This may manifest as sepsis, pneumonia, meningitis, urinary tract infection and septic arthritis among others. All others are possible but in this demographic, the three most common pathogens are group B Streptococcus, E. coli and Listeria monocytogenes.
A preterm baby is born at 25 + 6 weeks gestation. He is delivered by caesarean section due to maternal pre-eclampsia. He is intubated at birth and given surfactant via the endotracheal tube. He is ventilated and commenced on IV dextrose. After 4 hours of age he has increased work of breathing, with intercostal and subcostal recession and a respiratory rate of 60/min. A chest x-ray shows a ground glass pattern in both lung fields. He has no audible murmur. He is afebrile. You diagnose respiratory distress syndrome. What is the aetiological factor responsible for respiratory distress syndrome?
A. Pneumonitis
B. Lung hypoplasia
C. Surfactant deficiency
D. Immature lung parenchyma
E. Infection with group B Streptococcus
C. Surfactant deficiency
3 C Respiratory distress syndrome (C) is secondary to surfactant deficiency due to immaturity of type 2 pneumocytes in the alveoli of the developing lung. Preterm babies are at risk by virtue of their gestational age. They have respiratory distress, and require artificial surfactant and ventilatory support as their lungs are prone to atelectasis. The lung parenchyma is structurally immature but functional (D). Congenital pneumonia (E) may present with increased work of breathing and focal signs on chest x-ray. Lung hypoplasia (B) occurs due to renal problems or diaphragmatic hernia, where the underlying lung is unable to develop and therefore is impaired functionally. (A) occurs as a part of meconium aspiration syndrome, and is due to the irritation to the lung caused by the chemicals in meconium.
A preterm baby is now 25 + 7 weeks corrected gestation. He is on the neonatal unit being cared for while his mother recovers on ITU after he was born secondary to an eclamptic seizure. He has been receiving formula milk as the parents have not consented to donor breast milk. He has been having bilious aspirates from his nasogastric tube and today his abdomen in very distended and tense. He has had one episode of bloody stools. You are going to treat him for nectrotizing enterocolitis (NEC). What is the best initial management plan?
A. Conservative management, observe and reassess
B. Nil by mouth (NBM), IV antibiotics and emergency exploratory laparotomy
C. IV fluids, emergency laparotomy and bowel resection
D. IV fluids and IV antibiotics
E. NBM, IV fluids, abdominal X-ray and surgical review
E. NBM, IV fluids, abdominal X-ray and surgical review
4 E NEC is a complicated disease occurring in preterm and also term babies. It has many risk factors, in this case formula feeding, prematurity and potential ischaemia at birth. The suspicion for NEC must remain high and therefore in this child where there are clear signs of bowel pathology, must be treated as such. He should therefore be managed actively, not conservatively (A). As with any suspected surgical problem, patients should be made NBM and given IV fluids, hence (D) is incorrect. He needs to be reviewed by a surgeon and imaging may assist this assessment (E). He cannot be operated on unless he is first seen by a surgeon and initial investigations are carried out; therefore (B) and (C) are incorrect. However he may require laparotomy and bowel resection.
A 3-day-old baby is seen by the midwife for a routine post-natal review. She notices that he is very floppy and his mother has raised concerns about his poor feeding. He has a protruding tongue, epicanthic folds, low set ears and sandal gap toes. She explains to the parents she thinks he may have Down’s syndrome and refers him to the paediatrician. What is the diagnostic test for Down’s syndrome?
A. Serum alpha fetoprotein, beta human chorionic gonadotrophin, oestriol, inhibin
B. Gene mutation analysis
C. Clinical diagnosis
D. Karyotype
E. FISH
D. Karyotype
5 DDown’s syndrome is due to trisomy 21 (three copies of chromosome 21) and therefore karyotyping will identify this extra chromosome (D). Women can be screened in pregnancy for the condition using various serum markers in combination with US scan (A). There is no gene mutation to identify (B); this would be more suitable in the diagnosis of cystic fibrosis. Although identification of a syndrome does involve elucidating clinical features, this needs to be confirmed with a diagnostic test if there is one available and karyoptying is the most definitive investigation in confirming a suspected diagnosis of Down’s syndrome (C). Fluorescence in situ hybridization (FISH) (E) is used for the identification of microdeletion syndromes such as DiGeorge’s or cri du chat syndrome.
A baby is born by emergency caesarean section due to fetal tachycardia. His delivery was uneventful and you are asked to see him 5 hours later on the post-natal ward. He has just taken his first feed and has been coughing and spluttering since. He had an episode with blue lips transiently and this has now improved; his oxygen saturations are 97 per cent in air and he is apyrexial. On examination, you note other features including vertebral and limb abnormalities, imperforate anus, pansystolic murmur at the lower left sternal edge and renal anomalies noted on antenatal scans. What is the most likely cause for his coughing episode?
A. Cleft palate
B. Tracheoesophageal fistula
C. Choanal atresia
D. Incoordinated swallowing reflex
E. Pneumonia
B. Tracheoesophageal fistula
6 B All the above may result in coughing in this baby. With the constellation of other signs suggestive of VACTERL (vertebral, anal imperforation, cardiac, tracheo-oesophageal fistula, renal and limb anomalies) it makes (B) the correct answer. Babies with a cleft palate (A) also have a similar history but you should expect to see or feel the cleft palate and other dysmorphic features perhaps consistent with DiGeorge’s or Down’s syndrome. Choanal atresia (C) is associated with CHARGE (coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary abnormalities and ear anomalies) syndrome. An incoordinated swallowing reflex (D) may exist if there was concern about the neurological or neuromuscular status, but there is no evidence of this from the history. Pneumonia (E) is likely as a consequence of tracheo-oesophageal fistula (B) and may exist independently but the child’s afebrile state makes this less likely.
A term baby is awaiting his discharge check when you are called to see him at 10 hours of age. His mother reports that he has turned a dusky colour and is not as alert as he has been. On examination he has central cyanosis, pulse 150 bpm regular, and both brachial and femoral pulses are palpable. He has normal heart sounds with no murmur. His oxygen saturations are 65 per cent in air. What is the most likely underlying diagnosis?
A. Transposition of the great vessels
B. Ventricular septal defect (VSD)
C. Tetralogy of Fallot
D. Aortic stenosis
E. Coartation of the aorta
A. Transposition of the great vessels
7 AThis child has a cyanotic defect affecting the oxygenation of the blood. Transposition of the great vessels (whereby the aorta is attached to the right ventricle and the pulmonary artery attached to the left ventricle) (A) and the Tetralogy of Fallot (multiple defects including VSD, right ventricular outflow tract obstruction, right ventricular hypertrophy and overriding aorta) (C) are both cyanotic presentations but the Tetralogy of Fallot more commonly presents at around 6 months of age with cyanotic spells. Transposition of the great vessels is more likely to present at birth and is only compatible with life if there is a mixing defect in addition (VSD, atrial septal defect, persistent ductus arteriorus). In this child the ductus arteriosus helps to shunt blood to the lungs until it starts to close physiologically. He then is at risk of worsening cyanosis. He needs a prostaglandin infusion to keep the duct open and surgical intervention. The other answer options (B) (VSD is a communication between the left and right ventricles allowing left-to-right shunting), (D) (narrowing of the outflow tract of the left ventricle) and (E) (narrowing of a section of the aorta) are acyanotic and therefore do not account for this presentation.
A 12-hour-old baby on the post-natal ward has just had a seizure lasting 2 minutes. It resolved spontaneously and was generalized in nature. Her mother had gestational diabetes and poor glucose control in pregnancy. The baby’s birth weight was 5 kg. There were no abnormalities noted on antenatal US scans or maternal serology. On examination she has no dysmorphic features and handles well. What initial blood tests would you do for the baby?
A. Liver function tests
B. Boehringer Mannheim (BM) glucose
C. Full blood count, C-reactive protein
D. Electrolytes
E. Calcium, magnesium
B. Boehringer Mannheim (BM) glucose
8 B Infants of diabetic mothers are at risk of congenital malformations (if glucose control was poor around conception) and hypoglycaemia and macrosomia in the post-natal period. They become used to having high levels of circulating glucose from their mother and therefore increase their baseline insulin production. At delivery, this supply of glucose is removed and the residual insulin will decrease their glucose, predisposing to hypoglycaemia, so (B) is correct. Fits can occur in babies secondary to infection (C), or electrolyte disturbances (A), (D) and (E) but in this case (B) is more likely given the mother’s history, though all should be considered after.
A pregnant woman is admitted to the labour ward for an elective caesarean section at 38 weeks for her baby who had an antenatal diagnosis of gastroschisis. The paediatric team are called to attend the delivery. The baby is born in good condition with no resuscitation required. He is taken to the neonatal unit for further care. Which of these is a complication of gastroschisis?
A. Dehydration
B. Hyperthermia
C. Necrotizing enterocolitis (NEC)
D. Fluid overload
E. Hypernatraemia
A. Dehydration
9 AGastroschisis refers to herniation of the bowel through a defect in the anterior abdominal wall of the developing fetus. It is not covered with a membrane as in exomphalos and is rarely associated with other anomalies. Gastroschisis can lead to fluid, electrolyte and heat losses. The baby will require fluid replacement and strict fluid balance assessment, placing in a heated incubator and regular electrolyte monitoring. Dehydration (A) is a serious complication, not overload (D), along with hypothermia and not hyperthermia (B). Hyponatraemia is more likely than hypernatraemia (E). NEC (C) is not more likely in children with gastroschisis.
You are called to see a baby who has just been born at 39 weeks’ gestation, as the midwife thinks he is small and should be admitted to the neonatal unit for his care. You review the baby. His weight is 1.8 kg, below the 0.4th centile and his head circumference is 35 cm – 50th centile. He has no dysmorphic features. Which is the most likely cause of this IUGR?
A. Chromosomal anomaly
B. Maternal smoking
C. Congenital infection
D. Maternal alcohol use
E. Placental insufficiency
E. Placental insufficiency
10 E Placental insufficiency is the most likely cause of IUGR. This child has
asymmetrical IUGR, suggesting that the insult occurred late in pregnancy with head growth sparing. Causes include maternal diabetes or pre-eclampsia, both resulting in placental insufficiency due to their effects on placental microvasculature. Chromosomal anomaly (A), maternal smoking (B), congenital infection (C) and maternal alcohol use (D) would more likely cause low birth weight and head circumference changes, i.e. symmetrical IUGR is present from the first trimester.
