Neonatology

1) Regarding ultrasound scans of the neonatal head: A Periventricular haemorrhages occur in 25% of very low birth weight infants. B Bleeds into the germinal matrix are unlikely to be associated with long term sequelae. C Most haemorrhages occur in the first 72 hours of life. D Grade 4 haemorrhages are unlikely to be symptomatic. E Ischaemic lesions are easily detected in the paraventricular area. (True) (True) (True) (False) (False)

Comments: Bleeds occur in about 25% of very low birth weight infants and are relatively easy to see. Ischaemic lesions are much more difficult to detect, but may be marked by a flare in the periventricular area. Lesions are graded I-IV. 1. Grade I means a bleed into the germinal matrix. 2. Grade II is unilateral blood in the lateral ventricle. 3. Grade III means the changes are bilateral and associated with dilatation of the lateral ventricles. 4. Grade IV means that there are intracerebral abnormalities associated. Grade IV lesions are the most serious, and are associated with significant risk of neurodevelopmental problems. The worst outcomes are associated with bilateral periventricular leucomalacia. Dilatation of the ventricles is readily detected on ultrasound scan, and the commonest cause is intraventricular bleed. This may spontaneously regress, arrest or progress causing significant hydrocephalus with tense fontanelle, suture separation and enlarging head circumference. Fits or other neurological symptoms may occur at this stage, which is usually treated with a VP shunt. 2) Which of the following is/are true of Hirschsprung's disease? A Often presents with neonatal large bowel obstruction. B Is due to absence of ganglion cells in Auberbach's plexus. C A contrast-study will show dilatation of the aganglionic segment. D Increased acetylcholinesterase activity is a histological feature. E Early treatment may involve rectal irrigation or an emergency colostomy. (True) (True) (False) (True) (True)

Neonatology

Comments: Hirschsprung's disease is a common cause of neonatal large bowel obstruction. It results from failure of migration of ganglion cells to the affected segment of bowel. This always involves the distal colon but the proximal extent of the involvement is variable and in rare cases may involve the whole of the large bowel. Histologically, the affected segment has absent ganglion cells in the Meissner's and Auerbach's plexus but immunohistochemical evidence of increased ACE activity. 80% of cases present in the neonatal period. Contrast studies show the affected segment to be tonically contracted. Rectal irrigation or an emergency colostomy may be required before a definitive 'pull-through' procedure. 3) The following may present as haemolytic disease of the newborn: A Hereditary spherocytosis B Glucose 6 phosphate dehydrogenase deficiency C Sickle cell trait D ABO incompatibility E Vitamin K1 deficiency Comments:

(True) (True) (False) (True) (False)

Immune: (Rh, ABO, other) Membrane defects: Spherocytosis, elliptocytosis Enzyme defects: G6PD, PK, hexokinase Sepsis Polycythaemia: IDM, fetal transfusion.

Sickle cell and thalassaemia do not present in the neonatal period (HbF present).

4) The following features are characteristic of William's Syndrome:

A Supravalvular aortic stenosis B Short stature C Transient neonatal hypocalcaemia D Normal facies E Mild to moderate learning difficulties

(True) (True) (False) (False) (True)

Neonatology

Comments: Recognized clinical features of William's Syndrome include: 1. Short stature 2. Characteristic facies "elfin" (full face with high rounded cheeks, broad forehead, flattened bridge of the nose and long upper lip), 3. Idiopathic hypercalcaemia 4. Supravalvular aortic stenosis 5. Mild to moderate learning difficulties.

5) Concerning blood flow in the fetus: A Blood flows from right to left through the foramen ovale. B Blood in the ascending aorta has a higher oxygen content than in the descending aorta. C The ductus arteriosus is closed. D Pulmonary pressure equals systemic pressure. E The haemoglobin may be 20g/dl. (True) (True) (False) (False) (True)

Comments: Persistence of the fetal circulatory pattern of right-to-left shunting through the patent ductus arteriosus and foramen ovale after birth is due to an excessively high pulmonary vascular resistance. Fetal pulmonary vascular resistance is usually elevated relative to fetal systemic or postnatal pulmonary pressure. This fetal state permits shunting of oxygenated umbilical venous blood to the left atrium (and brain) through the foramen ovale and bypasses the lungs through the ductus arteriosus to the descending aorta. After birth, pulmonary vascular resistance normally declines rapidly as a consequence of vasodilatation due to gas filling the lungs, a rise in postnatal PaO2, a reduction in PCO2, increased pH, and release of vasoactive substances. Normal haemoglobin range in the first 1-3 days of life is between 14.5-22.5 g/dl.

6) The following are normal in the newborn infant: A A systolic blood pressure of 70mm in mercury. B Penile erections. C A Persistently palpable bladder. (True) (True) (False)

Neonatology

D A soft diastolic heart murmur. E An inherent prepuce.

(False) (True)

Comments: Murmurs if innocent would be systolic and of short duration. Persistently palpable bladder indicates the presence of urethral obstruction.

7) The following are associated with neonatal hypoglycaemia: A Septicaemia B Respiratory distress syndrome C Rhesus incompatibility D Maternal beta blockers E Intravenous hydrocortisone (True) (True) (True) (True) (False)

Comments: Neonatal Transient: Inadequate substrate (SGA, permaturity) Hyperinsulinism (IDM, erythroblastosis fetalis) Septicaemia Neonatal Persistent: Hyperinsulinism (Beckwith, nesidioblastosis) Hormone deficiency (panhypopit, ACTH, GH, cortisol, adrenaline) Substrate limited (ketotic hypoglycaemia, MSUD) Glycogen storage diseases Disorders of gluconeogenesis (alcohol, aspirin, hyperglycaemia) Other: GIPUT Disorders of fat (alternative fuel): 1st and 2nd carnitine deficiency, long medium and short- chain fatty acid oxidation defects.

8) The major problems associated with multiple births include: A Impossibility of breast feeding B Increased incidence of APH C Increased incidence of preterm labour D Increased incidence of growth retardation. E Increased incidence of congenital abnormalities. (False) (False) (True) (True) (True)

Neonatology

Comments: Twins occur from natural causes about 1% of the time, with triplets approximately 1:10,000, and quadruplets 1:500,000. Fertility treatment has vastly increased this rate, putting strain on intensive care cot facilities. The major problems associated with multiple births are: Preeclampsia, preterm labour (-2 weeks from term for each extra child) with all the extra morbidity and mortality that goes with it, complicated deliveries including malpresentation, growth retardation and twin/twin blood transfusions, particularly a problems with monochorionic twins, and an increased incidence of congenital abnormalities.

9) Concerning fetal lung development: A Type II pneumocytes are present at 24 weeks gestation. B Cuboidal cells are capable of gas transfer in utero. C There is virtually no smooth muscle in the terminal and respiratory bronchioles at 6 months of age. D The large airways are formed at 16 weeks gestation. E The adult complement of alveoli are present at birth. (True) (False) (True) (True) (False)

Comments: Lung development proceeds with the budding of bronchi, bronchioles, and successively smaller divisions. By 20-24 wk, primitive alveoli have formed and surfactant production has begun (type II pneumocytes); before that time, the absence of alveoli renders the lung useless as an organ of gas exchange. Alveolarisation is also influenced by physical stimuli. Both the stretch by the liquid contained in the fetal lung and the periodic distension provided by the action of the respiratory muscles during fetal breathing, for instance, appear to be necessary for the development of the acinus. Their absence when the lungs or chest are compressed (as in the case of a diaphragmatic hernia or oligohydramnios) or when fetal breathing is abolished (by spinal cord lesions, for example) results in pulmonary hypoplasia with reduced numbers of alveoli. Prenatal glucocorticoid therapy decreases the severity of RDS and reduces the incidence of other complications of prematurity, such as intraventricular haemorrhage, patent ductus arteriosus, pneumothorax, and necrotizing enterocolitis, without affecting neonatal growth, development, lung mechanics or growth, or the incidence of infection. Prenatal glucocorticoids may act synergistically with postnatal exogenous surfactant therapy. Alveoli continue to develop up to the age of 8 or so: this is why patients with chronic lung disease tend to survive if they get through the first two winters.

Neonatology

10) The following maternal conditions can cause disease in the fetus/newborn: A Hyperparathyroidism B Immune thrombocytopaenic purpura C Myasthenia gravis D Diabetes mellitus E Thyrotoxicosis (True) (True) (True) (True) (True)

Comments: Organ failure: Cholestasis, cyanotic heart disease, renal transplant Immune: Rh/ ABO, Diabetes, Graves, myesthenia gravis, ITP, isoimmune neutropaenia or thrombocytopaenia Hormonal: endemic goitre, hyperparathyroidism, obesity Other: pre-eclampsia, genital herpes, sickle, Drug addiction, PKU, melanoma.

11) The fetus with intrauterine growth retardation is at risk from: A Developing diabetes in the neonatal period. B Anaemia. C Hyponatraemia. D Necrotizing enterocolitis. E Hypomagnesaemia. (False) (False) (False) (True) (False)

Neonatology

Comments: Particular risks are: Intrauterine hypoxia and death, and birth asphyxia. Hypothermia (relatively large surface area). Hypoglycaemia (poor fat and glycogen stores), with an increased risk of diabetes in adulthood. Hypocalcaemia. Polycythaemia (venous amount >0.65, due to fetal response to hypoxia). Most commonly growth retardation is asymmetrical, with relative preservation of head circumference, and this is usually due to placental insufficiency. Symmetrical growth retardation suggests prolonged poor intrauterine growth, and there is an increased risk of fetal chromosomal disorder or syndrome, congenital infection, or maternal smoking, drug or alcohol abuse, chronic medical condition or malnutrition. The latter infants tend to remain small permanently, while the former often show good catch-up growth. Antenatal CTG and Doppler ultrasound of the uterine artery are attempts to measure the well-being of these fetuses, though they are not terrible sensitive or specific.

12) Regarding ingested substances during pregnancy: A Eating unpasteurised dairy products increases the risk of listeria infection. B Eating kidneys can lead to vitamin A toxicity in the fetus. (True) (False) (True) (False) (False)

C Peri-conceptual folic acid supplements reduce the risk of neural tube defects. D Toxoplasma infection can be acquired from cattle. E An amniocentesis is mandatory when the mother is over 32 years old.

Comments: Exposure to toxoplasmosis should be minimised by not handling cat litter or eating undercooked poultry. Listeria infection can be acquired from eating unpasteurised dairy products such as soft ripened cheeses, pates, and ready to eat poultry unless it has been thoroughly reheated. Eating liver during pregnancy is best avoided because of potential vitamin A toxicity. Low dose folic acid supplementation is recommended for all women planning a pregnancy with a higher does for women with a previously affected fetus or on anti-epileptic medication.

Neonatology

13) Regarding the development of the skull sutures: A Craniosynostosis is due to dysfunctioning osteoblasts. B The skull vault develops from mesenchyme. C Scaphocephaly develops from premature fusion of the coronal suture. D Occipital plagiocephaly is usually due to infant positioning. E Scaphocephaly develops from premature fusion of the lamdoid suture. (False) (True) (False) (True) (False)

Comments: Craniosynostosis is defined as premature closure of the sutures, and may be primary or secondary to failure of brain growth. The majority are idiopathic, with genetic syndromes accounting for 10%. The skull bones develop from mesenchyme, and craniosynostosis may be due to abnormal skull base development disrupting suture development. Osteoblasts and osteoclasts are not thought to be abnormal. Most cases are evident from birth, and a prominent bony ridge from the affected suture (S) may be found, confirmed by skull x-rays. Specific forms include:

Scaphocephaly A sagittal suture. Frontal plagiocephaly A coronal/sphenofrontal suture. Occipital plagiocephaly A infant positioning. Trigonocephaly Ametopic suture. Turricephaly A coronal/sphenofrontal sutures.

Single suture involvement rarely is associated with neurological problems. Surgery is only needed for cosmetic appearance. Genetic disorders involving multiple sutures include: Crouzon, Apert, Carpenter, Chotzen, and Pfeiffer Syndromes.

Neonatology

14) Regarding birth asphyxia in the newborn: A The fetal cardiotachograph is a sensitive and specific assessment (False) of potential asphyxia. B Fetal blood sampling is a good predictor of long term neonatal outcome. C Low apgar scores at 5 minutes are a good predictor of long term neurological outcome. D Alternating hypotonia and hypertonia suggests severe hypoxic ischaemic encephalopathy. E NMR imaging is mandatory in all children with possible birth asphyxia. (False) (False) (True) (False)

Comments: The incidence of birth asphyxia is around 5 per 1000 live births, and it is an important cause of brain damage. CTG and fetal blood sampling are both poor predictors of long term outcome. A low apgar score in the first 5 minutes is also a poor predictor, but a low apgar at 10-20 minutes is a much better predictor of poor outcome. HIE is graded as:

Mild - irritability, hyperventilation, poor feeding. Moderate - lethargy reduced spontaneous movements, fits. Severe - no spontaneous movements, no response to pain, seizures are prolonged and resistant to treatment. Multi-organ failure may be present.

Mild HIE usually recovers completely. Severe HIE has a 12% mortality, with 20% suffering neurodevelopmental disabilities including CP. The incidence of these problems is increased if cystic lesions or ventricular dilatation from cerebral atrophy are seen on scans.

15) With regard to the normal examination of the newborn: A Cysts can occur normally on the gums (epulis). B There may be prolapse of a ring of vaginal mucosa in a female infant. C Petechiae may be found over the head and neck following a traumatic delivery. D Swollen eyelids suggest gonococcal infection. E An umbilical hernia often requires surgical repair in the first few (True) (True) (True) (False) (False)

Neonatology

years of life. Comments: Cysts of the gums (epulis) or the floor of the mouth (ranular) are normal. A white vaginal discharge or small withdrawal bleed occurs in female infants as transferred maternal oestrogen levels fall, and this may be accompanied by a prolapse of a ring of vaginal mucosa. Breast enlargement may also occur in either sex and a small amount of milk may be discharged. Traumatic cyanosis is common, and may take the form of petechial bleeding into the skin of the head and neck area and subconjunctival haemorrhages. Swollen eyelids and distortion of the shape of the head from delivery are common, as are ventouse marks and forceps marks. Umbilical hernias are common particularly in Afro-Caribbean infants and no treatment is usually required with it resolving by the first 3 years of life. 16) Indications for chorionic villus sampling include: A Suspected Rhesus Disease B Chromosomal analysis C Enzyme analysis for inborn error of metabolism D DNA analysis for Duchenne muscular dystrophy E Suspected congenital infection (False) (True) (True) (True) (True)

Comments: Chorionic villus sampling has slightly greater rate of fetal wastage than amniocentesis, but does have the advantage of being possible in the first trimester before fetal movements have started. Indications include chromosomal analysis, enzyme analysis, DNA analysis, and to obtain samples for PCR diagnosis of congenital infection.

17) The following are recognized features of Noonan's Syndrome: A The palprebal fissures are mongoloid in slant. B It is occasionally associated with mild learning difficulties. C The neck is webbed with a trident hairline. D Pectus excavatum is a recognized feature. E Dilated cardiomyopathy is a potential complication. (False) (True) (True) (True) (False)

Comments: Clinical features of Noonan's Syndrome include: Characteristic facies with Anti-mongoloid slant of the eyes which are relatively wide-spaced, with low-set ears

Neonatology

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and Turners-like, short webbed neck with trident hairline. The chest is commonly deformed with pectus excavatum or asymmetry and a short sternum. The stature is short and there may occasionally be mild learning difficulties. Congenital heart disease is common, particularly dysplastic pulmonary valve and ASD in addition to a hypertrophic cardiomyopathy. Many children experience great difficulty with feeding in the first year of life.

18) In monochorionic twins with uncompensated placental arteriovenous shunts: A The donor twin may have olighydramnios. B The donor twin may have microcardia. C The recipient twin may have large glomeruli. D By definition the twins vary in Hb by > 5g/dl. E The surviving twin is at risk of disseminated intravascular coagulation. (True) (True) (True) (True) (True)

Comments: Placental vascular anastomoses occur with high frequency only in monochorionic twins. In monochorionic placentas, the fetal vasculature is usually joined, sometimes in a very complex manner. The vascular anastomoses in monochorionic placentas may be artery-to-artery, vein-to-vein, or artery-to-vein. They are usually well enough balanced so that neither twin suffers. Artery-to-artery communications cross over placental veins, and when anastomoses are present, blood can readily be stroked from one fetal vascular bed to the other. Vein-to-vein communications are similarly recognised and are less common. A combination of artery-to-artery and vein-to-vein anastomoses is associated with acardiac fetus. This rare lethal anomaly (1:35,000) is secondary to the TRAP sequence-Twin Reversed Arterial Profusion. Neodymium: YAG laser ablation of the anastomoses, in utero, can treat heart failure of the surviving twin. In rare cases, one umbilical cord may arise from the other after leaving the placenta. In such cases the twin attached to the secondary cord is usually malnourished or dies in utero. Twins of widely discrepant size are usually monochorionic. In the fetal transfusion syndrome, an artery from one twin delivers blood that is drained into the vein of the other. The latter becomes plethoric and large while the former is anaemic and small. By definition, there is a 5 g/dl haemoglobin and 20% body weight difference in this syndrome. Maternal hydramnios in a twin pregnancy suggests the fetal transfusion syndrome. Anticipating this possibility by preparing to transfuse the donor twin or to bleed the recipient twin may be lifesaving. Death of the donor twin in utero may result in generalised fibrin thrombin in the smaller arterioles of the recipient twin, possibly as the result of transfusion of thromboplastin-rich blood from the

Neonatology

11

macerating donor fetus. The surviving twin may develop disseminated intravascular coagulation. Treatment of this highly lethal problem includes maternal digoxin, selective twin termination, or Nd:YAG laser ablation of the anastomosis. Donor twin (arterial side): Oligohydramnios Small premature, malnourished, hypoglycaemic Pale, anaemic, hypovolaemic Small glomeruli Thin-walled arterioles Recipient twin (venous side): Polyhydramnios Large preterm, well-nourished Plethoric, polycythaemic, hypervolaemic, cardiac failure, Large glomeruli, Thick-walled arterioles.

19) The following definitions are true: A Still birth rate is the rate of fetal deaths after 28 completed weeks of pregnancy per 1000 total pregnancies. B The perinatal mortality rate is the total of still births plus deaths within the first month per 1000 live and still births. C The neonatal mortality rate is the deaths of live born infants less than 28 days of age per 1000 live births. D An abortion is a premature expulsion from the uterus of the products of conception before 26 completed weeks gestation. E A miscarriage is the loss of the products of conception from the uterus before 16 completed weeks. (False) (False) (True) (False) (False)

Comments: Still birth is defined as a fetal death after 24 completed weeks of pregnancy. Perinatal mortality rate is the still births plus deaths within the first 6 days per 1000 live and still births. Neonatal mortality rate is the deaths of live born infants less than 28 days of age per 1000 live births. Miscarriage is the loss of the products of conception before the fetus is viable, and an Abortion is the premature expulsion from the uterus of the products of conception either embryo or non-viable fetus.

20) The following diagnoses can be reliably made on antenatal ultrasound performed before 20 weeks: A Spina bifida occulta B Gastroschisis (False) (True)

Neonatology

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C Ventricular septal defect D Gestational age E Down's Syndrome

(False) (True) (False)

Comments: Gestational age can be reliably estimated if performed before 20 weeks, but after this the margin for error increases. Multiple pregnancies can be identified. Up to 70% of major structural abnormalities can be identified, and more detailed scans and specialist centres arranged. Fetal growth can now be reliable measured from serial abdominal circumference by parietal diameter and femur length. Oligohydraminos and polyhydraminos can also be diagnosed. Although specialist centres can reliably diagnose major cardiac malformations, VSD can be very difficult to detect. Mutual fold thickness is being investigated as a possible means of making a diagnosis of Down's Syndrome, but this is not generally available or accepted.

21) The following are examples of multifactorial inheritance manifest in the neonatal period: A Anencephaly B Pyloric stenosis C Myotonic dystrophy D Ankylosing spondylitis E Leber's optic neuropathy (True) (True) (False) (False) (False)

Comments: Polygenical multifactorial inheritance refers to a spectrum of disorders which are neither purely environmental in origin nor purely hereditary. They are thought to result from the additive effect of several genes with or without the influence of environmental or other unknown factors. Height and IQ are inherited in this way, and these parameters show a normal distribution in the population. Relatives of an affected person show an increased liability to the disorder so that a greater proportion of them than in the general population will fall beyond the threshold and will manifest the disorder. The disease may also be more severe in relatives, particularly where there is a close relationship to the affected person and there are multiple affected family members. In addition, a sex difference in prevalence results in an increased risk to relatives. The phenotype may be manifest as a congenital malformation or in adult life.

Congenital malformations: Neural tube defects, congenital heart disease, cleft lip and palate, pyloric stenosis, CDH, talipes,

Neonatology

13

hypospadias. Adult life: Atherosclerosis and coronary heart disease, diabetes mellitus, asthma, epilepsy, hypertension, HLA associated diseases.

Leber's hereditary optic neuropathy is a mitrochondrial abnormality.

22) Regarding retinopathy of prematurity: A All babies who have received oxygen should have their eyes examined until a corrected age of 44 weeks gestation. B It occurs in 50% of very low birth weight infants. C Cryosurgery or laser therapy may be indicated for grade 3 or 4 disease. D It is first detected at the equivalent of 32-38 weeks gestational age. E It may progress extremely rapidly. (False) (False) (True) (True) (True)

Comments: Retinopathy of prematurity (ROP, retinalentral fibroplasia) affects vessels at the junction of the vascular and non-vascularised retina. Follow-up only needs to take place until the retina is fully vascularised. Vascular proliferation may progress to retinal detachment, fibrosis and blindness. It was previously the commonest cause of blindness in children, but careful monitoring has reduced its incidence to only 30% of very low birth weight infants (more in extremely preterm infants). This is usually only grade 1 or 2 (reversible) rather than grade 3 or 4 (requiring treatment). It is first detected between 32 and 38 weeks of age, but may progress rapidly. Severe visual impairment occurs in only 1% of low birth weight infants.

23) The following are useful in assessing the gestational age of an infant: A Posture B Elbow angle C Square window test D Nipple formation E Palmar creases (True) (False) (True) (True) (False)

Comments: Compared with the premature infant of appropriate weight, the infant with retarded

Neonatology

14

intrauterine growth has a reduced birth weight and may appear to have a disproportionately larger head relative to body size; infants in both groups lack subcutaneous fat. In general, neurologic maturity (e.g., nerve conduction velocity) correlates with gestational age despite reduced fetal weight. Physical signs may be useful in estimating gestational age at birth. Commonly used, the Dubowitz scoring system is accurate to 2 wk. An infant should be presumed to be at high risk of mortality or morbidity if a discrepancy exists between the estimation of gestational age by physical examination, the mother's estimated date of last menstrual period, and fetal ultrasonic evaluation. Dubowitz scoring consists of: NEUROLOGICAL: Posture, square window, ankle dorsiflexion, arm and leg recoil, popliteal angle, heel-to-ear, scarf sign, head lag, ventral suspension. CUTANEOUS: Oedema, skin texture, colour, and opacity; lanugo; plantar creases; nipple, breast, and genitalia formation; ear formation and firmness.

24) The following statements are true regarding smoking in pregnancy: A Smoking assists in maturation of the fetal lung. B The reduction in birth weight is related to the number of cigarettes smoked per day. C Maternal smoking may adversely affect testicular function in male children. D Dysmorphic facies is a recognised complication. E The newborn baby may require adjustments in drug dosages because of it. (False) (True) (False) (False) (False)

Comments: Smoking reduces birth weight which may be of critical importance if the baby is born pre-term. On average, the babies of smokers weigh 170g less than non-smokers, but the reduction in birth weight is related to the number of cigarettes smoked per day. Smoking is also associated with an increased risk of miscarriage and still birth. The infant has a greater risk of Sudden Infant Death Syndrome. There is some evidence that maternal smoking may adversely affect ovarian function in female children. No dysmorphic syndrome has yet been described.

25) following are characteristic of Cri-du-Chat Syndrome: A Hypotonia (True)

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B Laryngeal abnormalities C Hypotelorism D Encephalocele E Deletion of 5pComments:

(True) (False) (False) (True)

Cri-du-Chat Syndrome is due to a 5p- deletion. The main features are:

Hypotonia Short stature Characteristic cry because of laryngeal abnormalities Microcephaly with protruding metopic suture Moon-like face Hypertelorism Bilateral epicanthic folds High-arched palate Wide and flat nasal bridge Mental retardation.

26) Fetal alcohol syndrome is characterized by: A Fetal anomalies in 10% of severe alcohol exposure B Intra-uterine growth retardation C Altered dermatoglyphics D Atrial septal defect E Joint hyperextensibility (False) (True) (True) (True) (False)

Comments: High levels of alcohol ingestion during pregnancy can be damaging to embryonic and fetal development. A specific pattern of malformation identified as the fetal alcohol syndrome has been documented and major and minor components of the syndrome are expressed in 1-2 infants/1,000 live births. Both moderate and high levels of alcohol intake during early pregnancy may result in alterations in growth and morphogenesis of the fetus; the greater the intake, the more severe the signs. Infants born to heavy drinkers have twice the risk of abnormality compared with those born to moderate drinkers; 32% of infants born to heavy drinkers demonstrated congenital anomalies, compared with 9% in the abstinent and 14% in the moderate group. The characteristics of the fetal alcohol syndrome include:

Neonatology

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1. Prenatal onset and persistence of growth deficiency for length, weight, and head circumference. 2. Facial abnormalities, including short palpebral fissures, epicanthal folds, maxillary hypoplasia, micrognathia, and thin upper lip. 3. Cardiac defects, primarily septal defects. 4. Minor joint and limb abnormalities, including some restriction of movement and altered palmar crease patterns. 5. Delayed development and mental deficiency varying from borderline to severe. Fetal alcohol syndrome is a common cause of mental retardation. The severity of dysmorphogenesis may range from severely affected infants with full manifestations of the fetal alcohol syndrome to those mildly affected with only a few manifestations. The detrimental effects may be due to the alcohol itself or to one of its breakdown products. Some evidence suggests that alcohol may impair placental transfer of essential amino acids and zinc, both necessary for protein synthesis, which accounts for the intrauterine growth retardation. The management of these infants may be difficult, since no specific therapy exists. The infants may remain hypotonic and tremulous despite sedation, and the prognosis is poor. Counselling with regard to recurrence is important. Prevention is achieved by eliminating alcohol intake after conception.

27) Neonatal convulsions can be caused by: A Maternal hyperparathyroidism B Subdural haematoma C Birth asphyxia D Hyponatraemia E Wilson's disease (True) (True) (True) (True) (False)

Comments: Convulsions usually point to a disorder of the central nervous system and suggest hypoxic-ischemic encephalopathy resulting from asphyxia, intracranial haemorrhage, cerebral anomaly, subdural effusion, meningitis, hypocalcaemia, hypoglycaemia, infarction, and, rarely, pyridoxine dependency, hyponatraemia, hypernatraemia, inborn errors of metabolism, drug withdrawal, or familial seizures.

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Seizures beginning in the delivery room or shortly thereafter may be due to unintentional injection of maternal local anaesthetic into the fetus. Convulsions may also result from administration of large amounts of hypotonic fluids to the mother shortly before and during delivery, leading to subsequent hyponatraemia and water intoxication in the infant. Convulsions (epileptic seizures) should be distinguished from the jitteriness that may be present in normal newborns, in infants of diabetic mothers, in those who experienced birth asphyxia or drug withdrawal, and in polycythaemic neonates. Jitteriness resembling simple tremors may be stopped by holding the infant's extremity; it often depends on sensory stimuli and is not associated with abnormal eye movements. Seizures in premature infants are often subtle and associated with abnormal eye or facial movements; the motor component is often that of tonic extension of the limbs, neck, and trunk. Term infants may have focal or multifocal, clonic or myoclonic movements but may also manifest more subtle seizure activity. Apnoea may be the first manifestation of seizure activity, particularly in a premature infant. Maternal hyperparathyroidism can result in neonatal hypocalcaemia, as maternal calcium crosses to the fetus and suppresses the fetal parathyroid glands.

28) Regarding hyaline membrane disease: A It is caused by deficiency of surfactant production by type 2 respiratory cells. B The hyaline membrane seen histologically is caused by a protenacious exudate. C It may be exacerbated by hypoxia, acidosis or hypothermia. (True) (True) (True)

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D It occurs in 45% of children born before 28 weeks of completed gestation. E Steroids given antenatally to the mother stimulate surfactant production.

(False) (True)

Comments: Surfactant is a mixture of lipoproteins produced by type 2 respiratory cells. It is excreted by the alveolar epithelium, and results in a lowering of surface tension so that alveoli can remain patent. The hyaline membrane on histology is formed by a protenacious exudate. The more preterm the infant the higher the incidence of RDS, with the majority of those below 28 weeks gestation being affected, though the condition can still occur rarely in the term infant. Hypoxia, acidosis or hypothermia increase the likelihood of it, and it is also commoner in the infant of a diabetic mother. Antenatal steroids and exogenous surfactant therapy have been major advances in its management.

29) The following conditions can be successfully treated by surgery on the fetus: A Diaphragmatic hernia B Hydrocephalus C Hydronephrosis D Pleural effusion E Hypoplastic left heart syndrome (False) (False) (False) (True) (False)

Comments: Fetal surgery is being attempted in specialised centres, but the results have been generally disappointing. Attempts to repair diaphragmatic hernia have resulted in preterm delivery, with no definite benefit on lung development. Pleural effusions have been successfully drained, but shunting of urinary obstructions has been disappointing. Treatment of hydrocephalus has largely been abandoned because the survivors are severely disabled, and the treatment of stenotic heart valves have only been successful in case reports. Currently, routine surgery is, therefore, not an option.

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30) The following suggest Patau's Syndrome rather than Edward's Syndrome: A Overlapping digits B Holoprose encephaly C Midline cleft palate D Rocker-bottom feet E Low-set ears (False) (True) (True) (False) (False)

Comments: Edward's Syndrome: Small chin, low-set ears, overlapping digits, rocker-bottom feet, cardiac and renal malformations. Patau's Syndrome: Structural defects of the brain, Midline cleft palate ,scalp lesions, microphthalmia and other eye defects, polydactyly, cardiac and renal malformations.

31) The following conditions can be treated by giving medication to the mother: A Fetal supraventricular tachycardia. B Accelerating surfactant production using antenatal steroids. C Reducing the risk of kernicterous in Rhesus Disease by giving mother Phenobarbitone. D Atropine to treat fetal congenital heart block. E Frusemide to treat fetal hydrops. (True) (True) (False) (False) (False)

Comments: Glucocorticoid therapy given before pre-term delivery accelerates lung maturation and surfactant production reducing the incidence in severity of RDS and IVH. For optimal effect it needs to be given at least 48 hours before delivery, but this is often not possible. Digoxin or flucanide can be given to the mother to treat fetal supraventricular tachycardia. Complete heart block is unresponsive to therapy, and Rhesus immunisation is best treated with fetal blood transfusions into the umbilical vein. This may be required regularly from about 20 weeks of gestation.

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32) The following definitions are correct: A A preterm infant is one born before 37 completed weeks of gestation. B A low birth weight infant weighs less than 2500g. C A very low birth weight infant weighs less than 1000g. D A extremely low birth weight infant weighs less than 750g. E Small for gestational age means that the birth weight is less than the 10th centile for gestational age. (True) (True) (False) (False) (True)

Comments: A neonate is an infant less than or equal to 28 days of age. A preterm infant is born before 37 completed weeks of gestation, and a post-term infant greater than or equal to 42 completed weeks. A low birth weight infant is less than 2500g, a very low birth weight infant less than 1500g, and an extremely low birth weight infant less than 1000g. Small for gestational age means that the birth weight is less than the 10th centile for gestational age, while large for gestational age means the birth weight is above the 90th centile for gestational age.

33) The following drugs given in labour can cause the adverse affects indicated in the fetus: A Opiates - constipation B Diazepam - hypotension C Oxytocin - fetal hypoxia D IV fluids - neonatal hyponatraemia E Opiates - delayed initiation of respiration (False) (True) (True) (True) (True)

Comments: Opiates of anaesthetic agents may suppress respiration at birth and result in a delay in establishing normal breathing. Epidural anaesthesia can cause maternal pyrexia which
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is difficult to distinguish from infection. It may also delay feeding in the infant. Sedatives such as Diazepam may cause sedation and hypotension in the newborn. Oxytocin may hyperstimulate the uterus causing fetal hypoxia, and is also associated with neonatal jaundice. Excessive IV fluids may cause neonatal hyponatraemia unless they contain an adequate concentration of sodium.

34) Prolonged jaundice in a neonate can be caused by: A Hypothyroidism B Galactosaemia C Von Gierke's disease D Gaucher's disease E Maple syrup urine disease Comments: Prolonged jaundice may be:

(True) (True) (False) (False) (False)

UNCONJUGATED: Hypothyroidism, Crigler-Najjar Prolonged haemolysis (immune-mediated, RC enzyme or membrane defect) Sepsis. CONJUGATED: o Infection: bacterial (UTI, septicaemia), CMV, hepatitis, toxoplasma, rubella o Metabolic: galactosaemia, fructosaemia, CF, alpha0-AT o Obstructive: biliary atresia, neonatal hepatitis syndrome, choledochal cyst.

35) Regarding the neonatal cardiac examination: A A chest x-ray and ECG are routinely indicated. B A grade 3/6 murmur is likely to be pathological. (False) (True)

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C Cyanosis on crying is normal. D Babies with weak femoral pulses should be re-examined a few hours later. E A loud second heart sound may be normal.

(True) (False) (False)

Comments: Heart murmurs are often audible in the neonatal period, but resolve shortly afterwards. Only occasionally are these caused by congenital heart disease. Innocent murmurs are usually soft and either blowing or buzzing in character. They are usually localized to the left sternal edge with no diastolic component and no radiation. The heart sounds are normal and there are no accompanying thrills, cyanosis nor abnormal pulses. Cyanosis may occur in the neonatal period when crying due to shunting through a patent foramen ovale. A loud second heart sound or weak femoral pulses should always be taken as significant until proven otherwise, as neonates can deteriorate rapidly if they have significant heart disease.

36) Necrosing enterocolitis is associated with: A Intrauterine growth retardation B Cow's milk formula feeding C Birth asphyxia D Prematurity E Oxygen therapy (True) (True) (True) (True) (False)

Comments: This serious disease of the newborn is of unknown aetiology and is characterised by varying degrees of mucosal or transmural necrosis of the intestine. No particular race or sex is unduly susceptible to the disease. Incidence ranges from 1 to 5% of admissions to neonatal intensive care units. Since the very small, ill preterm infant is particularly susceptible to NEC, a rising incidence in recent years may reflect improved survival of this high-risk group of patients. The disease does rarely occur in term infants. Many factors may contribute to the development of a necrotic segment of intestine, the gas accumulation in the submucosa of the bowel wall (pneumatosis, intestinalis), and progression of the necrosis leading to perforation, sepsis, and death. The distal ileum and proximal colon are involved most frequently.

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A variety of factors such as polycythaemia, hypertonic milk or medicines, or too rapid feeding protocols may contribute to mucosal injury and subsequent infection leading to bowel necrosis. NEC also occurs in premature infants without stress, particularly during epidemics. The clustering of cases suggests a primary role for an infectious agent; Clostridium perfringens, Escherichia coli, Staphylococcus epidermidis, and rotavirus have commonly been recovered from cultures. Nonetheless, in most situations no identifiable pathogen is recovered. It is associated with sick infants (who may require oxygen), but not with oxygen itself.

37) The following are characteristic features of Prader-Willi Syndrome:

A Uniparental disomy with deletion of the paternal chromosome 15 B Large testes C Hypotonia D Initial growth retardation E Large hands and feet Comments:

(True) (False) (True) (True) (False)

Prader-Willi Syndrome is a classic example of imprinting. This refers to the

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observation that phenotypic expression depends on the parent of origin for certain genes and chromosomal segments. In the case of Prader-Willi Syndrome, this comes from the paternal chromosome 15. Interestingly, a defect at a similar location on chromosome 15 of the mother, results in Angelman's Syndrome. Prader-Willi is characterised by severe hypotonia at birth, obesity after initial failure to thrive, short stature, small hands and feet, hypogonadism, and mental retardation. In the differential diagnosis of childhood OBESITY, causes may be endocrine, genetic or other: 1. Endocrine: Cushing's, hypothyroidism, hyperinsulinaemia, and growth hormone deficiency, Prader-Willi, Stein-Leventhal, and Pseudohypoparathyroidism type 1. 2. Genetic: Turner's syndrome, Laurence-Moon-Biedl Syndrome. 3. Other: Cohen Syndrome, Carpenter Syndrome.

38) The following are recognised clinical features of neonatal sepsis: A Hypothermia B Vomiting C Hyperglycaemia D Jitteriness E Hypocalcaemia (True) (True) (True) (True) (False)

Comments: Clinical features of neonatal sepsis include Fever or temperature instability, poor feeding, vomiting, jaundice; irritability, seizures, lethargy or drowsiness; apnoea and bradycardia or respiratory distress; abdominal distension; hypo or hyperglycaemia; or shock. Meningitis is suggested by a tense or bulging fontanelle, fits, or head retraction (opisthotonus).

39) Hydrops fetalis is caused by intrauterine infection with: A Syphilis (True)

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B Listeria C Parvovirus D Group B streptococcus E Toxoplasma Comments: Causes of hydrops include:

(False) (True) (False) (True)

IMMUNE : Haematologic: Rh and ABO incompatibility NON-IMMUNE:

Infectious: parvovirus, CMV, toxo, syphilis CVS: SVT, AV malformation, heart block Pulmonary: diaphragmatic hernia, lymphangiectasia Tumour: neuroblastoma, haemangioma, teratoma Hepatic: hepatitis, cirrhosis, fibrosis Renal: nephrosis, prune belly GI: atresia, volvulus, CF Metabolic: IDM, storage diseases Malformations: Arthrogryphosis, Noonan Chromosomal: XO, trisomies Idiopathic.

40) The following methods can be used for prenatal diagnosis: A Amniocentesis at 16-20 weeks of gestation B Chorionic villus sampling at 12-14 wks gestation C Fetal blood sampling D Foetoscopy E Ultrasonogram (True) (False) (True) (True) (True)

Comments: Amniocentesis is done at 16-20 weeks gestation, for measurement of metabolites and karyotype estimation. CVS from placental tissue has to be performed 10th -12th week. Fetal blood sampling is sometimes performed. Foetoscopy involves endoscopic examination or surgery of the foetus through

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the abdominal/uterine portal of entry. Ultrasonography is the most non invasive of all.

41) Duchenne muscular dystrophy: A Occurs more commonly in children of elderly mothers. B One third have an IQ less than 75. C A translocation of an autosome to the Xp21 site explains why occasionally females are affected. D The diagnosis is commonly confirmed by detecting the gene mutation. E In a muscle biopsy immune labelled dystrophin will be visible. (False) (True) (True) (True) (True)

Comments: Duchenne muscular dystrophy is the most common hereditary neuromuscular disease, affecting all races and ethnic groups. Its incidence is 1:3,600 liveborn male infants. This disease is inherited as an X-linked recessive trait. The abnormal gene is on the X-chromosome at the Xp21 locus and is one of the largest genes yet identified. Becker muscular dystrophy is the same fundamental disease as Duchenne dystrophy, with a genetic defect at the same locus, but clinically follows a milder and more protracted course. Walking is often accomplished at the normal age of about 12 months, but hip girdle weakness may be seen in subtle form as early as the 2nd year. Toddlers may assume a lordotic posture when standing to compensate for gluteal weakness. An early Gowers' sign is often evident by 3 years of age and is fully expressed by 5 or 6 years of age. A Trendelenburg gait, or hip waddle, appears at this time. Contractures most often involve the ankles, knees, hips, and elbows. Scoliosis is common. Enlargement of the calves (pseudohypertrophy) and wasting of thigh muscles is a classic feature. Cardiomyopathy is a constant feature of this disease. Intellectual impairment occurs in all patients, although only 20-30% have an intelligence quotient (IQ) less than 70. The muscle biopsy is diagnostic and shows characteristic changes. Myopathic changes include endomysial connective tissue proliferation, scattered degenerating and regenerating myofibres, foci of mononuclear inflammatory cell infiltrates as a reaction to muscle fibre necrosis, mild architectural changes in still functional muscle fibres, and many dense fibres. A specific molecular genetic diagnosis is now possible by demonstrating deficient or defective dystrophin by immunohistochemical staining of sections of muscle biopsy tissue or by DNA analysis from peripheral blood. Confirmation of the diagnosis by one of these methods should be done in every case. Death occurs usually at about 18 years of age. The causes of death are respiratory failure in sleep,

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intractable congestive heart failure, pneumonia, or occasionally aspiration and airway obstruction. Copyright 2002 Dr Colin Melville

42) Respiratory distress syndrome: A Occurs in 30% of premature babies of 34 weeks gestation. B Occurs more frequently in infants of diabetic mothers. C The lungs have low compliance. D Is commoner in girls. E Is more common in infants of mothers addicted to narcotics. (True) (True) (True) (False) (False)

Comments: HMD occurs primarily in premature infants; incidence is inversely proportional to the gestational age and birth weight. It occurs in 60-80% of infants less than 28 wk of gestational age, in 10-30% of those between 32 and 36 wk, in about 5% beyond 37 wk, and rarely at term. An increased frequency is associated with infants of diabetic mothers, delivery before 37 wk gestation, multifetal pregnancies, caesarean section delivery, precipitous delivery, asphyxia, cold stress, and a history of prior affected infants. The incidence is highest among preterm male or white infants. Earlier lung maturation may occur when there is severe premature separation of the placenta, premature rupture of the fetal membranes, narcotic addiction, or maternal hypertensive and renal vascular disease. Alveolar atelectasis, hyaline membrane formation, and interstitial oedema make the lungs less compliant, requiring greater pressure to expand the small alveoli and airways.

42) The conditions in which Genetic Anticipation occur include: A Cystic fibrosis (False)

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B Huntington's chorea C Fragile X syndrome D Myotonic dystrophy E Marfan's syndrome

(True) (True) (True) (False)

Comments: The human genome is a dynamic apparatus, and rearrangements of DNA sequences occurring as a normal mechanism (evolved perhaps to increase the diversity of gene expression or as divergence from and expansion of a gene family) are susceptible to mutation, and these tracts of DNA are often referred to as unstable. A recently recognised type of mutation involves the expansion of tandemly repeated nucleotide triplets. These Tri-nucleotide repeat arrays are found in normal individuals in certain genes and are capable of occasionally being expanded in size through an increase in trinucleotide repeat number. If the number of repeats exceeds a certain threshold, the repeat array becomes unstable, and additional size increases are likely to occur in succeeding generations. This type of unstable (or dynamic) mutation can result in disease in individuals carrying the expanded repeats. At present these Tri-nucleotide repeat expansions fall into three classes, with corresponding classes of phenotypes. The first class is characterised by large expansions of a CGG trinucleotide (cytosine-guanine-guanine), leading to a fragile site in the chromosome. Such a site is so designated because it is associated with chromosome breakage under certain in vitro growth conditions. The prototype for this class is the fragile X syndrome (FRAXA), in which an expanded CGG repeat in the 5' untranslated region of the FMR1 gene leads to underexpression and a clinical phenotype of mental retardation, macro-orchidism, and other somatic changes in affected males. The second class of disorder involves the relatively small expansion of an in-frame CAG (cytosine-adenine-guanine) repeat in the coding region of the respective genes, leading to a polyglutamine stretch in the resulting protein. Interestingly, all of the known disorders exhibiting this type of expansion are dominantly inherited, late-onset neurodegenerative diseases, the best known example being Huntington disease. The third class of disorder involving triplet repeat expansion is represented by the disorder myotonic dystrophy. In this case a CTG (cytosinethymine-guanine) repeat in the 3 {prime} untranslated region of the relevant gene is greatly expanded in affected individuals. A commonly observed characteristic of this dominantly inherited disease is an increase in disease severity in successive generations, a clinical phenomenon known as anticipation. Anticipation results from the successive increases in repeat expansion and is observed to a lesser degree in the other classes of disorders. Facioscapulohumeral (FSH) muscular dystrophy (Landouzy-Djerine disease) also shows the phenomenon of anticipation. The genetic defect in autosomal dominant FSH muscular dystrophy is at the 4q35 locus.

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43) Factors contributing to the occurrence of congenital dislocation of the hip include: A Breech presentation B Male sex C Achondroplasia D Laxity of the joints E Spina bifida occulta (True) (False) (False) (True) (False)

Comments: Developmental dysplasia of the hip (DDH) usually occurs in the neonatal period. The hips at birth are rarely dislocated but rather "dislocatable." Dislocations tend to occur after delivery and, thus, are postnatal in origin, although the exact time when dislocations occur is controversial. Because they are not truly congenital in origin, the term development dysplasia of the hip is now recommended. DDH is classified into two major groups: typical, in a neurologically normal infant, and teratologic, in which there is an underlying neuromuscular disorder such as myelodysplasia, arthrogryposis multiplex congenita, or a syndrome complex. Teratologic dislocations occur in utero and are therefore truly congenital. The cause of DDH is multifactorial, having both physiologic and mechanical factors. The positive family history (20%) and the generalised ligamentous laxity are related etiologic factors. The majority of children with DDH have generalised ligamentous laxity, and this can predispose to hip instability. Maternal estrogens and other hormones associated with pelvic relaxation result in further, although temporary, relaxation of the newborn hip joint. There is also a 9:1 female predominance. Approximately 60% of children with typical DDH are first-born, and 30 -50% developed in the breech position. The frank breech position with the hips flexed and the knees extended is the position of highest risk. The breech position results in extreme hip flexion and limitation of hip motion. Increased hip flexion results in stretching of the already lax capsule and ligament teres. It also produces posterior uncoverage of the femoral head. Decreased hip motion leads to a lack of normal development of the cartilaginous acetabulum. There is also an association of congenital muscular torticollis (14 -20%) and metatarsus adductus (1 00%) with DDH. The presence of either condition requires a careful examination of the hips. Postnatal factors are also important determinants. Maintaining the hips in the position of adduction and extension may lead to dislocation. This puts the unstable hip under pressure because of the normal hip flexion and abduction contractures. An unstable femoral head, as a consequence, can be displaced from the acetabulum over several days or weeks.

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44) The following are true of infants with a single umbilical artery: A The incidence is 1:100. B Congenital anomalies are found in about 1/3 of cases. C There is an association with trisomy 18. D Associated defects may be subtle. E There is an association with Beckwith's syndrome. (False) (True) (True) (True) (False)

Comments: A single umbilical artery is present in about 500/1,000 births; the frequency is about 35-70/1,000 twin births. Approximately one third of infants with a single umbilical artery have congenital abnormalities, usually more than one, and many such infants are stillborn or die shortly after birth. 18-Trisomy is one of the more frequent abnormalities. Since many abnormalities are not apparent on gross physical examination, it is important that at every delivery the cut cord and the maternal and fetal surfaces of the placenta be inspected. The number of arteries present should be recorded as an aid to the early suspicion and identification of abnormalities in such infants.

45) A baby girl was born at 32 weeks gestation weighing 1.2kg. Primary immunisations should be given as follows: A DPT at a corrected age of 2, 3 and 4 months. B BCG at 6 weeks of age. C Hepatitis B vaccination at birth, 1 month and 6 months of age. D MMR at 9 months of age. E Hib at 2, 3 and 4 months of age. Comments: Premature babies should be immunised at chronological rather than corrected age. They should receive the normal immunisation schedule which consists of:

(False) (False) (False) (False) (True)

DPT, Hib and Polio at 2, 3, and 4 months of age.

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MMR at 10 - 12 months of age. Booster DT and Polio at 3 - 5 years of age, along with second dose of MMR. BCG in infancy or between 10 and 14 years of age. Booster DT and Polio at 13 - 18 years.

For children who are on the neonatal intensive care unit, oral polio vaccine should be deferred, with the first dose being given on discharge from hospital, and the second and third doses being given at monthly intervals thereafter. 46) Recognised consequences of ABO incompatibility include: A Coomb's negative haemolysis B Jaundice on the first day of life C Increased severity in further pregnancies D Normal haemoglobin on the first day of life E Spherocytes in the blood (True) (True) (True) (True) (True)

Comments: Major blood group incompatibility between mother and fetus usually results in milder disease than does Rh incompatibility. Maternal antibody may be formed against B cells if the mother is type A or against A cells if the mother is type B. However, usually the mother is type O and the infant is type A or B. Although ABO incompatibility occurs in 20{endash}-25% of pregnancies, haemolytic disease develops in only 10% of such offspring, and usually the infants are of type A1, which is more antigenic than A2. Most cases are mild, with jaundice as the only clinical manifestation. The infant is not generally affected at birth; pallor is not present and hydrops fetalis is extremely rare. Liver and spleen are not greatly enlarged, if at all. Jaundice usually appears during the first 24 hr. Rarely, it may become severe, and symptoms and signs of kernicterus develop rapidly. A presumptive diagnosis is based on the presence of ABO incompatibility, a weakly to moderately positive direct Coomb's test, and spherocytes in the blood smear, which may at times suggest the presence of hereditary spherocytosis. The Coomb's test is not always positive. 47) Regarding apnoea of prematurity: A The incidence of the idiopathic form varies inversely with gestational age. B It may be caused by neonatal sepsis. C It increases in frequency during non-REM sleep. (True) (True) (False)

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D Bag and mask ventilation is often required. E May be treated with blood transfusion.

(False) (True)

Comments: Periodic breathing must be distinguished from prolonged apnoeic pauses, since the latter may be associated with serious illness. The aetiology includes: 1. CNS depression (hypoglycaemia, meningitis, drugs, haemorrhage). 2. Abnormal oxygen delivery (shock, sepsis, anaemia). 3. Ventilatory defects (pneumonia, HMD, PFC, muscle weakness). It is described as idiopathic when identifiable causes are absent. The idiopathic form varies inversely in frequency with gestational age. It is rare on day 1, but tends to start between day 2 and 7 of life. Sudden onset of severe apnoeas and bradycardia deserve investigation. Apnoea is defined as cessation of breathing for longer than 20 seconds or cessation of breathing is associated with cyanosis and bradycardia. Treatment includes cutaneous stimulation, with bag and mask ventilation for recurrent or prolonged apnoea. Oxygen and Theophylline or caffeine should be prescribed if they recur. The haemoglobin should be maintained with transfusion or erythropoietin. Occasionally nasal CPAP is required for mixed or obstructive apnoeas (assists in splinting the upper airway). Unless severe, recurrent, or refractory to therapy, the prognosis is related to underlying conditions (IVH, BPD, ROP etc.). Apnoea of prematurity usually disappears by 36 weeks post-conceptual age, and does not predict future episodes of SIDS.

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48) In respiratory distress in the newborn, the following suggests a diaphragmatic hernia: A Delivery by caesarean section B Heart sounds on the right side of the chest C A CTG showing type 2 dips D Scaphoid abdomen E Prolonged rupture of the membrane (False) (True) (False) (True) (False)

Comments: Diaphragmatic hernia has an incidence of 1:4000. It is often diagnosed antenatally, or may present with failure to respond to resuscitation or increase in tachypnoea in the neonatal period. The majority are left-sided causing displacement of the heart into the opposite hemithorax. Over vigorous resuscitation may cause air leaks. A nasogastric tube should be passed and ventilation commenced at high rate, low peaks and low pressures. It is often accompanied by pulmonary hypoplasia and persistent fetal circulation. Oscillatory ventilation, nitric oxide or echmo may be required. Antenatal evidence of birth asphyxia makes meconium aspiration more likely, and delivery by caesarean section is associated with an increased incidence of transient tachypnoea of the newborn. Prolonged rupture of membranes is associated with an increased risk of congenital pneumonia or septicaemia.

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