1) From the list of options below, please select the most likely diagnosis for each of the following scenarios concerning newborns. Each option may be used more than once.
A. Downâs syndrome
B. Transient tachypnoea of the newborn
C. Respiratory distress syndrome
D. Hypoglycaemia
E. Transposition of the great arteries
F. Neonatal lupus erythematosus
G. Neonatal abstinence syndrome
H. Intrauterine growth deficiency
I. Bronchopneumonia
J. Tetralogy of Fallot
K. Monosomy
L. Trisomy 18
1. A fall-term baby boy is born by elective Caesarean section. He develops signs of respiratory distress at 30 minutes of age.
2. A full-term baby girl develops central cyanosis a few hours after birth. She was treated with prostaglandin therapy.
3. A term newborn develops hyperirritability, gastrointestinal dysfunction, sneezing and exaggerated reflexes at 72 hours of age.
4. A baby boy was stillborn at 37 weeksâ gestation. He had rocker-bottom foot and overlapping fingers.
5. A newborn has a persistent bradycardia. An ECG confirms a complete heart block.
2) From the list of options below, please select the most appropriate diagnosis for each of the following scenarios and statements concerning premature neonates. Each option may be used more than once.
A. Patent ductus arteriosus
B. Periventricular leukomalacia
C. Hirschsprungâs disease
D. Chronic lung disease
E. Intraventricular haemorrhage
F. Monosomy
G. Respiratory distress syndrome
H. Retinopathy of prematurity
I. Necrotising enterocolitis
J. Haemoglobinopathy
K. Apnoea of prematurity
L. Bronchopneumonia
1. A 3-day-old baby who was born at 30 weeksâ gestation shows no signs of respiratory distress, but has recurrent pauses in his breathing that last for more than 20 seconds.
2. A 2-week-old baby girl who was born prematurely at 28 weeksâ gestation becomes increasingly lethargic, with marked feed intolerance. On examination, her abdomen is swollen and tender.
3. This condition may be caused by the acute or chronic effects of oxygen toxicity on the blood vessels.
4. Oliguria is a recognised side-effect of the treatment for this condition.
5. A baby boy is born at 26 weeksâ gestation. When he is 10 weeks old he still requires nasal prong oxygen. His X-rays show a sponge-like appearance, with areas of lung opacification.
3) From the list of options below, please select the most likely diagnosis for each of the following scenarios concerning jaundice in the neonatal period. Each option may be used more than once.
A. Gallstones
B. Physiological jaundice
C. Rhesus incompatibility
D. Thalassaemia
E. Kernicterus
F. G6PD deficiency
G. Hydrops fetalis
H. Intraventricular haemorrhage
I. Breast milk jaundice
J. ABO incompatibility
K. Pyruvate kinase deficiency
L. Liver failure
1. A baby girl is born at 35 weeksâ gestation by Caesarean section. She develops jaundice on day 2 with a maximum bilirubin level of 200mmol/l on day 3. The jaundice resolves by day 7.
2. A baby boy is bom by emergency Caesarean section at 3 7 weeksâ gestation due to rising maternal anti-D titres and pleural effusions seen on the babyâs antenatal scan. He is very oedematous at delivery, and the cord bilirubin level is 50mmol/l.
3. A baby boy is born at term by normal vaginal delivery. His motherâs blood group is O Rhesus positive. He is observed to be jaundiced at 18 hours of age.
4. A baby boy of Mediterranean origin is born at term by normal vaginal delivery after an uncomplicated pregnancy. He is discharged home the following day after a normal baby check. He presents again at 14 days of age with severe haemolytic jaundice.
5. A baby boy is born at term by normal vaginal delivery. The pregnancy was not booked, as the mother denied knowing that she was pregnant. The baby was found to be significantly jaundiced at 12 hours of age, and his bilirubin level increased to 550mmol/l, despite phototherapy. He developed irritability, hypertonia and back arching.
4) From the list of options below, please select the most likely diagnosis for each of the following scenarios, which describe possible findings at the newborn baby check. Each option may be used more than once.
A. PraderâWilli syndrome
B. Edwardsâ syndrome
C. Erbâs palsy
D. Congenital cataract
E. Absent anus
F. Turnerâs syndrome
G. Klumpkeâs palsy
H. Viral gastroenteritis
I. Cleft palate
J. Spina bifida
K. Cystic fibrosis
L. Congenital hypothyroidism
1. A baby boy was born at term by normal vaginal delivery, and had a birth weight of 4.9 kg. Neonatal examination revealed an abnormal Moro reflex. The Moro reflex was normal on the left side, but there was very little movement of the right arm. There was positive hand grasp bilaterally.
2. A baby girl who was born at term is found to have puffy feet and a cystic hygroma at her neonatal examination.
3. A 1-day-old term baby boy has not been feeding well, despite looking hungry. He also vomited from his nostrils.
4. A baby boy born at term has not passed meconium by 36 hours of age. There is no visible anorectal malformation on direct inspection, he has vomited several times, and his abdomen appears distended.
5. A baby girl is born at term by normal vaginal delivery. On direct ophthalmoscopy, no red reflex is seen in either eye.
1) B, E, G, L, F
1. B. Transient tachypnoea of the newborn
Transient tachypnoea of the newborn (TTN) is usually a self-limiting condition that is characterised by tachypnoea, mild recession, grunting and occasionally hypoxia. It is usually noted in larger premature infants or term infants who have been delivered by Caesarean section or precipitous delivery. Infants born to diabetic mothers and those with poor respiratory drive due to placental passage of analgesic drugs are also at risk. Chest radiograph shows prominent central markings, fluid in lung fissures and the occasional small pleural effusion.
2. E. Transposition of the great arteries
Transposition of the great arteries (TGA) is the most common cyanotic heart lesion to present in the newborn period. The aorta arises from the right ventricle, and the pulmonary artery arises from the left ventricle. This results in deoxygenated blood returning to the right heart and being pumped out to the body, while well-oxygenated blood returning from the lungs enters the left heart and is pumped back to the lungs. Without mixing of the two circulations, death can quickly occur. Initial medical management therefore involves the administration of prostaglandin Ej to maintain ductal patency.
3. G. Neonatal abstinence syndrome
This is classical methadone withdrawal (also referred to as neonatal abstinence syndrome, or NAS). Symptoms of methadone withdrawal typically appear within 48â72 hours, but may not appear for up to 3 weeks. Signs of neonatal abstinence syndrome due to opiates include hyperirritability, gastrointestinal dysfunction, respiratory distress and vague autonomic symptoms (e.g. yawning, sneezing, mottling and fever). Tremors and jittery movements, high-pitched cries, increased muscle tone and irritability are also common, and reflexes may be exaggerated. Loose stools are common as well, leading to possible electrolyte imbalances and nappy rash.
4. L. Trisomy 18
Typical features of trisomy 18 (also known as Edwardsâ syndrome) include growth retardation, micrognathia (small mouth), clinodactyly, hypoplastic nails, overlapping fingers, rocker-bottom foot and cardiac abnormalities. Most cases will die in utero or shortly after birth, with only 5% surviving longer than 1 year.
5. F. Neonatal lupus erythematosus
This is caused by transplacental passage of autoantibodies from a mother with systemic lupus erythematosus. Damage to the babyâs cardiac conducting system results in congenital heart block. The mortality rate is approximately 20%, and most of the infants who survive require pacing.
2) K, I, H, A, D
1. K. Apnoea of prematurity
Apnoea of prematurity commonly occurs in newborns who are born before 34 weeks of pregnancy, and it increases in frequency and severity among the most prematurely born. In these newborns, the respiratory centre has not matured fully. As a result...