Neonatology Shorts and Answers

How does a breastfeeding mother know that her infant is getting enough milk?  The baby has several wet nappies per day  The baby is gaining weight  The baby appears healthy and content Write short notes on a successful screening programme. The following criteria should be satisfied in newborn screening programmes:  The disease should be a significant health problem  The disease should have a latent or asymptomatic phase  There should be a commonly accepted and successful therapy  The natural history of the disease should be understood  The test should be sensitive (few false negatives) and specific (few false positives)  The screening programme should be cost effective  The test sample should be easily obtained  Adequate facilities for diagnosis and therapy should exist  There should be a commitment to careful follow-up Screening in the neonate – heel prick blood sample The infant needs to be on an adequate milk diet for at least 72 hours before the test If on antibiotics, the Guthrie reaction (for phenylalanine) may be affected Bacterial inhibition methods screen for: - Phenylketonuria - Galactosaemia - Homocystinuria - Maple syrup urine disease ELISA screens for: - Congenital hypothyroidism Early detection of these inborn errors of metabolism can prevent death and mental retardation Describe the clinical behaviour of a baby suffering from opiate withdrawal. Signs and symptoms of withdrawal occur in up to 60% to 90% of exposed babies. Onset may be minutes following birth up to 2 weeks of age although it is usually within 4 days. Clinical behaviour includes: - Wakefulness - Irritability - Tremulousness, temperature instability - Hyperactivity, high pitched cry, hypertonia - Diarrhoea, disorganized suck and feeding problems - Respiratory distress, rhinorrhoea - Apnoeic attacks - Weight gain failure - Agitation - Lacrimation What do you understand by the term bonding? It is a process of attachment and consists of emotional ties and commitments that characterize the relationship between each participant in this social event and the infant who becomes the central figure or centre of attention. During pregnancy: i. Initial stage by end of first trimester where the mother identifies growing foetus as an integral part of herself

ii.

Second stage usually occurs with awareness of foetal movement where the mother has a growing perception of the foetus as a separate individual and develops a sense of attachment and value towards the baby (choosing a name, buying clothes) During the neonatal period: i. In the first week after delivery, human mothers seem to have a routine behaviour which begins with finger tip touching of extremities and then massaging of the infant’s trunk with their palm What factors predispose to intrauterine growth retardation? (Causes of low birthweight)  Inherited genetic factors  Short maternal height  Multiple pregnancies  Smoking  Maternal disease such as chronic hypertension or renal disease  Alcohol  Drugs  Substance abuse  Malnutrition  Pre-eclampsia  Vascular malformations of placenta  Placental abruption  Uteroplacental insufficiency  Chromosomal abnormalities such as trisomy 13, 18 or 21 and Turner’s syndrome  Congenital infection, most commonly CMV  Lower socio-economic groups What advice should be given to parents to decrease the risk of sudden infant death syndrome?  The infant should lie on his or her back while asleep  The infant should live in a smoke-free house  Parents should avoid letting the baby become too hot  If there are signs of an upper respiratory tract infection or if the parents think that their baby is unwell, medical advice should be sought from a doctor Write a short note on surfactant [dipalmitoyl phosphatidyl choline (DPPC) + DPPGlycerol].  It is a lipoprotein complex; a phospholipid (90% lipid, 10% protein)  Secretion from type II pneumocytes from approximately 32 weeks gestation is stimulated by glucocorticoids  It lowers the surface tension of alveolar fluid  It is essential to increase the compliance of the alveoli and lungs and reduce the work of breathing  Deficiency is associated with the respiratory distress syndrome of the newborn List causes of prolonged hyperbilirubinaemia (lasting more than 7 days).  Breast milk jaundice  Blood group incompatibility  Hypothyroidism  Pyloric stenosis  Infection, especially UTIs  Cystic fibrosis  Gilbert’s disease

Write a brief note on infant colic.  Defined as intermittent and unexplained crying during the first 3 months of an infant’s life that reaches a point at which the parents attend for medical advice  Typical features include paroxysms of crying, flushing of the face, frowning, drawing up of the legs and a high pitched scream which suddenly ends in a few minutes  Idiopathic though rapid gastric emptying is thought to play a part  Management includes ensuring that there is no obvious cause for crying such as otitis media or urinary tract infection (use of pacifier, gentle motion, reduce air entry with feeds)  Reassurance to the parents is essential after demonstrating a thorough physical examination What is the significance of failure to pass meconium within the first 48 hours of life? The meconium plug syndrome may be due to Hirschprung’s disease. In some cases the infant fails to open his or her bowels in the first 24 hours and may develop signs of obstruction. These infants require careful follow up in order to detect those with Hirschprung’s disease or cystic fibrosis. Write short notes on kernicterus. Kernicterus is when unconjugated bilirubin which is fat soluble passes through the blood-brain barrier and causes permanent damage with chronic disability. The basal ganglia are especially affected. Choreoathetoid cerebral palsy, high tone nerve deafness, enamel hypoplasia and mental handicap may result. Though it is not known as to what exact levels of unconjugated bilirubin cause kernicterus, predisposing factors include: - Acidosis - Asphyxia - Prematurity - Drugs which compete for albumen bilirubin binding sites Evaluation and diagnosis is based on: - History and physical examination - Total bilirubin and the Coomb’s test - Haemoglobin, blood count and blood film Other investigations include an MSU, TFT, hepatic enzymes, a sweat test and scans. List signs of cardiac failure in the newborn infant.  Feeding problems  Respiratory distress (tachypnoea, subcostal recession, flaring nostrils)  Tachycardia  Hepatomegaly  Basal lung crepitations  Cyanosis  Oedema with unexpected weight gain  Sweating especially associated with feeds  Heart murmurs Discuss briefly the association between intrapartum asphyxia and cerebral palsy. Intrapartum asphyxia is said to be one of the causes of the chronic motor disease termed cerebral palsy. However, increasing use of foetal monitoring and Caesarean sections to prevent and minimize intrapartum asphyxia have hardly changed the frequency of cerebral palsy. Hence one cannot state with certainty that cerebral palsy in a given child was due to intrapartum asphyxia. Permanent motor deficit can be caused by asphyxia but only if that asphyxia was severe and prolonged. Evidence of such substantial asphyxia will be manifest during labour, delivery and the neonatal course. 4 questions must be asked before a causal relationship can be stated. These are:

i. ii.

Was there evidence of marked and prolonged intrapartum asphyxia? Did the infant, as a newborn, exhibit signs of moderate or severe hypoxic-ischaemic encephalopathy during the newborn period with evidence also of asphyxial injury to other organ systems? iii. Is the child’s neurologic condition one that intrapartum asphyxia could explain? iv. Has the workup been sufficient to rule out other conditions? Even when asphyxia is present, pre-existing malformations or neurologic abnormalities may have contributed to the occurrence of the asphyxia. The point is, presence of asphyxia does not necessarily imply blame. List common causes of neonatal sepsis.  Group B Streptococci (vertical and horizontal transmission)  E. coli (vertical and horizontal transmission)  Listeria (vertical transmission)  Staphylococcus aureus (horizontal transmission)  Candida Outline the management of neonatal hypoglycaemia. First, rule out sepsis, CNS disease and other biochemical disturbances. Prevention includes: - Identification of groups at risk (IUGR, prematurity, delayed feeding, IDM, glycogen storage disease, birth asphyxia, endocrine deficiencies, hypothermia) - Close monitoring - Early oral feeding Correction includes: - Oral or intravenous 10% dextrose infusion - Small intravenous bolus of glucose (2 – 4 ml of 10% dextrose per kg) for acute symptoms - Reduction of energy needs (infant is kept warm) - Identification of the cause - Checking of insulin levels during hypoglycaemia - Metabolic screen - Endocrine investigations - Treatment of underlying cause If all else fails, may need hydrocortisone, glucagon or diazoxide (suppresses pancreatic insulin). What risks are associated with postnatal neonatal transport?  Hypoglycaemia  Hypothermia  Hypoventilation and/or hypoxaemia  Hypotension and/or hypovolaemia  Electrolyte imbalance and/or sepsis What factors affect the newborn’s ability to thermoregulate? Limiting factors include: - The large body surface to volume ratio contributes to marked radiant heat loss - Limited insulation by a thin layer of subcutaneous fat contributes to marked radiant heat loss - There is poor development of shivering thermogenesis for cold environments Capabilities include: - Alteration of vasomotor tone - Behavioural movements like huddling positions - Sweating to increase evaporative losses in a warm environment - Non-shivering thermogenesis in brown fat to keep warm in cool environments

A term infant who had been previously asymptomatic is noted by his mother to be tachypnoeic (in respiratory distress) at age 72 hours. What causes should be considered? Tachypnoea in a term baby is sepsis until proven otherwise. Other causes to be considered are: - Pulmonary diseases [transient tachypnoea of the newborn, pneumonia (particularly group B Streptococci, meconium aspiration syndrome (has a spectrum of presentation), aspiration pneumonia, pulmonary haemorrhage, pneumothorax] - Congenital pulmonary lesions (pulmonary hypoplasia, congenital emphysema, diaphragmatic hernia) - Airway obstruction (bilateral choanal atresia, thyroid enlargement, congenital laryngeal stridor, tracheo-oesophageal fistula) - Others (congenital heart disease, anaemia, polycythaemia, acidosis, persistent foetal circulation) What is an umbilical granuloma? It is the commonest cause of an umbilical discharge and is due to excessive granulation tissue associated with delayed healing of the stump. It has a pale pink fleshy appearance. If there is a narrow pedicle, this can be ligatured at its base or otherwise a sparing application of silver nitrate stick can be used with care to protect the surrounding skin with vaseline. Describe reactions to grief. Grief is a definite syndrome which may be accompanied by a broad range of emotional, physical, cognitive and behavioural reactions or experiences. These include: - Emotions (sadness, anger, anxiety, guilt) - Physical sensations (insomnia, lethargy, muscle tension, dizziness, nausea, vomiting) - Cognitive thoughts (disbelief, confusion, self-blame, preoccupation) - Behaviours (appetite and sleep changes, dreams, avoidance, crying, absent-mindedness) It best be summed up by the stages thought of by Elizabeth Kubler Ross: i. Denial ii. Anger iii. Bargaining iv. Depression v. Acceptance List factors that affect perinatal mortality.  Age (lowest mortality rates associated with 20 – 24 years)  Parity (lowest mortality rate in second pregnancies)  Socio-economic class (worst in unsupported women)  Geography (better health in rural areas)  Medical skill  Obstetric history  Cigarette smoking (associated with higher mortality rates)  Shorter inter-pregnancy intervals (associated with higher mortality rates)  Birthweight Write short notes on the Moro reflex. It is a primitive reflex, meaning that it is a reflex that is developed intrauterine. The infant is made to sit up. One palm is placed under the infant’s head. The head is then dropped back 2cm onto the lower palm of that same hand. Normally, abduction and extension of the arms is followed by adduction and extension of the legs.

What maternal diseases are associated with an increased risk of congenital malformation?  Diabetes (risk of congenital malformation is 3 – 4 times that of non-diabetics)  Phenylketonuria  Infections (rubella, Toxoplasmosis, CMV, syphilis, varicella zoster, herpes, hepatitis, HIV) List the causes of small for dates babies.  Wrong dates  Inherited genetic factors  Short maternal height  Multiple pregnancies  Smoking  Maternal disease such as chronic hypertension or renal disease  Alcohol  Drugs  Substance abuse  Malnutrition  Pre-eclampsia  Vascular malformations of placenta  Placental abruption  Uteroplacental insufficiency  Chromosomal abnormalities such as trisomy 13, 18 or 21 and Turner’s syndrome  Congenital infection, most commonly CMV  Lower socio-economic groups What is polycythaemia in the newborn infant? It is defined as a venous haematocrit of 65% or more during the first week of life. As haematocrit increases, blood viscosity increases. However, other factors may also affect viscosity. It may be caused by chronic intrauterine hypoxia, excessive transfusion of blood or may present in infants of diabetic mothers. Clinical features include: - Neurological (jitteriness, lethargy, cerebral vessel thrombosis) - Cardiorespiratory (transient tachypnoea of the newborn, persistent foetal circulation) - Gastrointestinal (necrotizing enterocolitis) - Renal (diminished function) - Hypoglycaemia - Jaundice Management includes hydration and partial exchange transfusion. Write short notes on the pathogenesis of intraventricular haemorrhage. The incidence of IVH is inversely related to birthweight and gestational age. It occurs in 25% of very low birthweight infants. IVH in premature infants occurs in the floor of the lateral ventricles. The lesion starts as a haemorrhage into the prominent subependymal germinal matrix overlying the caudate nucleus in the premature infant. Immature blood vessels in this highly vascular area may be subjected to various forces that, together with poor tissue vascular support, predispose premature infants to IVH. IVH can be graded as follows: - Grade 1; haemorrhage confined to subependymal germinal matrix - Grade 2; IVH with no dilatation of ventricles - Grade 3; IVH with distension of ventricles - Grade 4; extension into the adjacent brain parenchyma While treatment is purely supportive, prognosis depends on the grading of the IVH as follows: - Grades 1 + 2; benign - Grades 3 + 4; high risk of major handicap

Write short notes on ABO blood group incompatibility. This is when naturally occurring anti-A or anti-B antibodies which are of the IgG class, cross the placenta. This occurs in approximately 10% of mothers. Jaundice usually presents for the first 2 days but hepatosplenomegaly is absent. Write short notes on transposition of the great arteries. This is when the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. It presents with early cyanosis and cardiac failure, often with no murmur. Prostaglandins are given to keep the ductus arteriosus open and an emergency septostomy is performed with a corrective switch procedure later. TGA almost always presents in the first few days of life. List causes of neonatal seizures.  Hypoxic ischaemic encephalopathy (usually presents before 3 days)  Intracranial infection (usually presents after 3 days)  Metabolic (hypoglycaemia, hypocalcaemia, hypomagnesaemia, hypo/hypernatraemia, inborn errors of metabolism)  Intracranial haemorrhage (usually presents before 3 days)  Cerebral malformation (usually presents after 3 days)  Drug withdrawal syndrome  Benign familial neonatal convulsions Write short notes on the management of retinopathy of prematurity. Retinopathy of prematurity is a disorder due to incomplete vascularization of the retina. It is classified as follows: - Stage I; a thin demarcation line develops between the vascularized region of the retina and the avascular zone - Stage II; the line develops into a ridge protruding into the vitreous - Stage III; extraretinal fibrovascular proliferation occurs with the ridge - Stage IV; fibrosis and scarring occurs as the neovascularization extends into the vitreous and traction on the retina results in retinal detachment The prognosis depends on the stage: - Stage I and II; 90% regress spontaneously - Stage III; 50% regress spontaneously Hence, management includes: - Laser treatment in severe cases to prevent further progression - Vitamin E in prevention is controversial - Follow up eye examinations Risk factors for ROP are: - Sepsis - High oxygen concentration - Acidosis - Respiratory distress syndrome - Prematurity Write short notes on fracture of the clavicle.  This is the bone most frequently injured during birth  May be associated with shoulder dystocia or assisted breech delivery  It may present as a crack heard during delivery, swelling from angulation of the bone, crepitus on examination or noted as callus formation later  No treatment is usually needed  Healing is always rapid, without long-term deformity

What is craniotabes?  Soft and compressible skull bones  More common in preterm infants though it is also seen in term infants  Associated with congenital rickets, osteogenesis imperfecta and congenital syphilis How does necrotizing enterocolitis present in the newborn?  Usually presents in the first week of life and 3 to 7 days after initiating enteral feeds  Signs of infection (handling poorly, apnoea, poor colour, tachycardia, tachypnoea)  Vomiting  Large gastric aspirates that may be bile-stained  Bloody stools  Abdominal distension  Abdominal tenderness  Abdominal discolouration  Induration of the abdominal wall  Umbilical flare  Progress to shock  Respiratory failure Write brief notes on hepatitis C infection in the neonate. Hepatitis C is a blood borne RNA virus that is transmitted parenterally. Vertical transmission has been correlated with maternal viral load and disease activity and ranges from 0% to 5%. The natural history in infants infected vertically is yet to be determined. Currently, there are no specific preventive measures and diagnosis using antibody testing is confounded by maternal antibodies. Treatment with interferon and ribavarin is undergoing evaluation. Write short notes on the prevention of meconium aspiration syndrome.  Suction of pharynx as the head crowns during delivery  Immediate delivery of the infant and clamping of the cord  Suction of the larynx under direct laryngoscopic vision  Intubation of the trachea if meconium is seen at or below the level of the vocal cords  Suction through an endotracheal tube using a special suction attachment  Chest compression before the infant starts to breathe is recommended by some, thereby minimizing inspiratory effort until the airway is clear Write short notes on brown fat. Brown fat is present in large amounts at birth and is mainly found in the interscapular and perirenal areas. It remains metabolically important for several years but in time atrophies. Present at 28 weeks gestation, it allows the neonate to respond to cool environments by an increase in metabolic rate and heat production without shivering. Noradrenaline released from sympathetic nerves acts via beta-3 receptors increasing cAMP in the brown fat cell. The unique properties in the cells are due to a protein, thermogenin which changes the fatty acid degradation pathway to become energy dissipative instead of energy conserving. Hence, all the energy is released as heat. What conditions are tested for on the Guthrie card (neonatal heel prick test)?  Phenylketonuria (1/4000)  Galactosaemia (1/20000)  Homocystinuria (1/60000)  Maple syrup urine disease (1/110000)  Congenital hypothyroidism (1/3500)

What are important points to remember when discussing the death of a child with parents?  Sharing in the sorrow of the baby’s death  Always referring to the baby by name  To sit silently when intense emotions exist  Arrangement for seeing the couple in 6 weeks or less (to allow them to ask questions, to discuss results of the postmortem, to reassure them about possible future pregnancies, to advise them on preconceptual counselling)  Letting them know that there is always someone to talk to in the hospital at any time  To speak slowly and coherently as in crises, parents only hear 10% of what you say  NEVER suggest that the loss is not a big deal as the parents are young or that there is a ‘bright’ side to the loss of their child if the child was thought to be abnormal in any way should he or she have lived What risk factors are associated with neural tube defects?  Absence of preconceptual and early pregnancy folic acid  Genetic factors  Higher incidence in Celtic races  More common in lower socio-economic groups  1st and 4th children are more likely to be affected  Radiation  Drugs  Malnutrition  Chemicals Write brief notes on galactosaemia. It is a rare autosomal recessive disorder whose condition may be fatal if diagnosis is delayed. The disorder results from a deficiency of the enzyme galactose-1-phosphate uridyl transferase. Affected infants are normal at birth but shortly after the commencement of milk may develop: - Vomiting - Diarrhoea - Jaundice - Hypoglycaemia - Failure to thrive If the diagnosis is delayed, the following complications may ensue: - E. coli sepsis - Liver disease - Cataracts - Mental retardation - Death Diagnosis includes urine being clinitest positive though it will be clinistix negative. Routine screening with the heel prick test at 72 hours is also performed. Those who are considered high risk having a first-degree relative affected can undergo the Beutler test which is an assay test. Treatment consists of careful dietary control, being on a galactose-free diet for life. Outline the common findings in an infant suffering from birth asphyxia.  Low Apgar scores at 5 minutes  Mixed acidosis  Multiorgan system dysfunction  Hypoxic ischaemic encephalopathy

What steps can be taken to improve the rate of successful breastfeeding? The 10 steps to successful breastfeeding by UNICEF and the WHO are: - Have a written breastfeeding policy that is routinely communicated to all healthcare staff - Train all healthcare staff in skills necessary to implement this policy - Inform all pregnant women about the benefits and management of breastfeeding - Help mothers initiate breastfeeding within half an hour of birth - Show mothers how to breastfeed and how to maintain lactation even if they are separated from their infants - Give newborn infants no food or drink other than breastmilk, unless medically indicated - Practice rooming in by allowing mothers and babies to remain together 24 hours a day - Encourage breastfeeding on demand - Give no artificial teats, pacifiers, dummies or soothers to breastfeeding infants - Help start breastfeeding support groups and refer mothers to them Write short notes on transient tachypnoea of the newborn. It is a pulmonary disease that mainly affects mature babies and is attributed to delayed clearing of foetal lung fluid after the onset of respiration. Chest x-rays would show hyperexpanded lungs, prominent perihilar streaking and fluid in the transverse fissure. TTN usually only lasts 24 to 48 hours. Risk factors for TTN include: - Elective Caesarean section - Male sex - Macrosomia - Delayed cord clamping - Breech delivery - Infant of a diabetic mother - Polycythaemia Name the common causes of neonatal intestinal obstruction.  Duodenal o Atresia or stenosis o Malrotation with volvulus o Malrotation with kinking or adhesions  Jejunal/Ileal o Atresia or stenosis o Malrotation with volvulus o Cystic fibrosis with meconium ileus o Necrotizing enterocolitis o Inguinal hernia with strangulation o Meckel’s diverticulum with volvulus o Panintestinal Hirschprung’s disease o Congenital adhesions or internal hernia  Colorectal o Hirschprung’s disease o Intestinal neuronal dysplasia o Anorectal agenesis o Necrotizing colitis o Small left colon syndrome o Perinatal stress or infection o Meconium plug syndrome o Hypothyroidism

What are milia? Milia are blocked sebaceous cysts which usually occur around the nose and cheeks. They are common and are present in up to 40% of newborn infants. Characteristically, they appear as fine white spots. These spots tend to resolve and clear spontaneously over the first 2 weeks of life. Write brief notes on congenital rubella infection. Organisms classically associated with in utero transmission include rubella. Infection in the first 8 weeks of pregnancy is most likely to result in severe and multiple defects of the foetus, particularly to the eyes (cataract), heart (defects) and ears (deafness). Studies estimate that at least 80% of infants whose mothers have rubella in the first 8 weeks of pregnancy have some rubella-associated impairment. Between 9 and 12 weeks, maternal rubella results in damage to about 50% of foetuses and is most likely to affect the ears. Between 13 and 16 weeks, less than 30% of infants are likely to be affected and damage other than congenital hearing loss is unusual. After 18 weeks, the chances of foetal damage are minimal but can still occur. Diagnosis uses an index of suspicion, a clinical picture and is confirmed by lab studies (culture and serology). A live vaccine is available. As to when to administer the vaccine remains controversial though many centres follow a policy of not administering it in pregnancy or in the few weeks leading to pregnancy. The rubella syndrome consists of: - PDA - Cataracts - Hearing deficits - Encephalitis - Interstitial pneumonitis - Interstitial pneumonia - Sensory abnormalities - Bony radioluciencies What are the risks of Down’s syndrome at different maternal ages? Down’s syndrome accounts for 1/3 of all those severely subnormal (IQ < 50). The risk of Down’s syndrome increases with maternal age as follows: 20 years – 1/2000 25 years – 1/2000 30 years – 1/1300 35 years – 1/400 40 years – 1/90 45 years – 1/32 50 years – 1/15 If a mother has previously had a child with Down’s syndrome, the risk is much higher. Discuss the management of an infant with signs of drug withdrawal.  Supportive care o Minimal stimulation (quiet and dark environment) o Swaddling o Prevention of excessive crying (pacifier, cuddling) o Nutrition and increased caloric needs (up to 150 calories/kg/day)  Drug treatment (when supportive care is insufficient or Finnegan score of 8 or more) o Opioids (oral morphine sulphate for pure opiate abuse) o Phenobarbitone for poly-drug abuse o Diazepam - Breastfeeding is allowed as only small amounts of drug get into breast milk (except cocaine)

Describe the clinical features of sepsis in a 1-day-old infant.  Acidosis  Apnoea  Abdominal distension  Diarrhoea  Decreased urinary output  Bradycardia  Grunting  Hypoglycaemia  Hypocalcaemia  Hypoxia  Hypotension  Intercostal recession  Irritability  Jaundice  Malaise  Meningeal signs  Poor suck  Poor feeding  Rash  Regurgitation  Seizures  Temperature instability  Tachypnoea  Tachycardia  Thrombocytopaenia  WBC increase Write short notes on tracheo-oesophageal fistulas (TOF). A TOF is a connection between the trachea and oesophagus often also associated with oesophageal atresia. It may be excluded by passing a nasogastric tube into the stomach. Clinical features include: - Abdominal distension - Polyhydramnios (due to failure to swallow liquor in utero) - ‘Bubbling’ from the mouth (the infant is unable to swallow saliva) - 50% have other abnormalities Treatment involves reconstruction of the oesophagus and closure of any fistulous connections surgically. The survival rate after surgery is 90%. What would make you suspect that a newborn infant had intestinal obstruction?  Abdominal distension  Failure to pass meconium  Bile-stained vomiting  Irritability What is hypospadias? It is when the urethra opens on to the ventral aspect of the penis at a point proximal to the normal site. Hypospadias occurs in 1 in 600 births. Severity varies and surgical repair is indicated if the boy is incapable of a socially acceptable urinary stream. It is essential to conserve the foreskin for use in the corrective procedure.

What are the problems facing an infant born with spina bifida? Spina bifida means an incomplete vertebral arch, due to developmental failure of fusion of the vertebral column. This may be associated with external protrusion of the meninges and spinal cord. Spina bifida occulta is the most benign form and is of no clinical significance. Major problems of spina bifida aperta, also called spina bifida cystica, include: - Lower limb abnormalities with flaccid paralysis, absent deep tendon reflexes, lack of response to deep touch and pain and high incidence of postural abnormalities - Neurogenic bladder with constant urinary dribbling, recurrent UTIs and associated ureteric reflux and subsequent renal failure - Faecal incontinence with a patulous anus or chronic constipation - Mental retardation - Hydrocephalus occurs in 80% to 90% of affected infants - Signs of hindbrain dysfunction (feeding difficulties, choking, stridor, apnoea) Write short notes on Toxoplasma gondii infection. It is a congenital infection with clinical manifestations of in utero infection with a same range of abnormalities as with CMV. Acquisition by the mother is through contact with animal litter or ingestion of undercooked meat. The classic triad is as follows: - Hydrocephalus - Intracranial calcification - Chorioretinitis Maternal infection early in gestation is less likely to cause foetal infection though if it does, the effects are more severe. Infection late in gestation more commonly affects the foetus though the effects are more subclinical. Diagnosis is based on an index of suspicion, a clinical picture and is confirmed by lab studies (culture, serology, skull x-ray, CT and histology). How much weight should a normal term infant gain during the first 6 weeks of life? A normal infant may lose up to 10% of his or her body weight in the first few days of lie. They should regain their birthweight by 2 weeks of age and thereafter should put on 200 grams per week for the first 3 months of life. Write short notes on constipation in infants. The cause of constipation is often insufficient fluid or food. It is essential to establish whether there is true constipation (hard stools) though. On assessment, one should determine that the infant is otherwise well. Rectal examination (looking for anal stenosis) is usually not required on initial assessment. Management initially involves reassurance and advice on ensuring adequate fluid in the diet. Generally, in the first few months of life extra fluid or sugar may cure the problem. Possible suppositories or purgatives should be avoided. Rare causes include hypothyroidism, hypercalcaemia, Hirschprung’s disease and anal stenosis. List factors predisposing to bronchopulmonary dysplasia.  High pressure IPPV + PIE  Pulmonary oxygen toxicity  Very immature lungs  Pre-existing lung disease  PDA and fluid overload  Infection  Persisting immaturity of the surfactant system  Disturbance of the elastase/protease system in the lung destroying parenchyma  Gastro-oesophageal reflux and inhalation of gastric contents

What are the most common problems in premature infants?  Apnoea  Anaemia  Birth asphyxia  Bronchopulmonary dysplasia  Cholestatic jaundice  Hypo/hyperglycaemia  Hypo/hypernatraemia  Hypocalcaemia  Hyperkalaemia  Hypotension  Infection  Inguinal hernias  Ileus, feeding difficulties  Intraventricular haemorrhage  Jaundice  Nutrition  Necrotizing enterocolitis  Patent ductus arteriosus  Respiratory distress syndrome (almost exclusive to premature infants)  Renal immaturity  Retinopathy of prematurity  Thermal instability Write brief notes on physiological jaundice. Physiological jaundice is a progressive rise in serum unconjugated bilirubin from 2 mg/dL (34 micromol/L) to over 6 – 12 mg/dL (100 – 200 micromol/L), slowly declining to adult value (1 mg/dL) by day 10. It is a transient rise in bilirubin which occurs in normal infants and tends to occur between day 2 and day 5 after birth. The preterm baby has a greater incidence. Causes include: - Shortened red cell life span - Higher haematocrit in the newborn - Patent ductus venosus, blood bypassing the liver - Decreased glucuronyl transferase activity - Increased enterohepatic circulation List complications of multiple pregnancies.  Increased risk of perinatal mortality  Prematurity (incidence is 25%)  Malpresentation  Congenital abnormalities  Postural deformities  Twin to twin transfusion  Asphyxia  Intrauterine growth retardation  Hypoglycaemia  Polycythaemia  The children are at a greater risk of subsequent psychological problems  The children may have delayed language development

List problems affecting infants as a result of maternal cigarette smoking during and after birth.  Birthweight of infants whose mothers smoked heavily during pregnancy is 200g less than average (smoking 12 cigarettes per day during pregnancy reduces birthweight by 180g)  Perinatal morbidity is increased when medical care is inadequate  Nicotine is a potent vasoconstrictor and impairs uteroplacental blood flow  Causes an increased level of carboxyhaemoglobin in the foetal blood with subsequent tissue hypoxia  Increased risk of miscarriage  Increased risk of bleeding during pregnancy  Increased risk of premature labour  Increased risk of stillbirth  Increased risk of early neonatal death  Increased risk of cot death  Increased chest infections  Asthma  Development of serious otitis media which may lead to deafness  Admission to hospital Describe briefly the main circulatory changes that occur at birth to enable adaptation to extrauterine life.  Clamping of the umbilical cord o Systemic vascular resistance doubles with removal of placenta o Arterial pressure and afterload on the heart increase  First breaths after birth o Mechanical expansion of the lungs o Changes in alveolar/arterial PO2, PCO2 o Pulmonary vascular resistance is reduced o Pulmonary blood flow increases  Rise in left atrial pressure o Reduced flow to right atrium due to clamping of the umbilical vein o Decrease in pulmonary vascular resistance with rise in blood flow through lungs to left atrium o Increase in resistance to left ventricular output due to clamping of the umbilical arteries o Reversal of pressure gradient across the atria  Closure of shunts o Ductus venosus closes when blood flow through the umbilical vein stops o Ductus arteriosus constricts within hours after birth and obliteration follows in weeks to months o Foramen ovale shunt is reduced and septal leaflets are fused over days or weeks as a higher left atrial pressure tends to hold shut the valve  Chemical mediators o Indomethacin which inhibits prostacyclin and prostaglandin synthesis, closes the ductus arteriosus What are risk factors for development of congenital dislocation of the hip?  Female sex (F: M ratio of 7: 1), more common in the firstborn  Positive family history

 Breech delivery  Foot deformities including calcaneovalgus Write brief notes on neonatal conjunctivitis. Early onset conjunctivitis is often sterile and may be due to irritation from amniotic fluid debris. When tears occur (after age 3 weeks) and the tear duct is not patent, epiphora occurs and may result in conjunctivitis. Bacterial infection usually starts on the third to fifth day and is most typically Staphylococcus aureus or E. coli and is treated with appropriate antibiotic eye ointment if cleaning alone is unsuccessful. Antibiotic ointment includes fucithalmic or chloromycetin ointment. Give methods of improving the uptake of breastfeeding by mothers.  Encourage all mothers to give breastfeeding a go (explain the benefits…20 good reasons!)  Commence breastfeeding as soon as possible after birth  Encourage rooming in  Breastfeed on demand  No supplements should be given to breastfed infants unless medically indicated and pacifiers should be avoided  Consistent lactation support information is essential  If breastfeeding has to be interrupted temporarily, expression of breastmilk is indicated Discuss briefly the differential diagnoses of hypoxic ischaemic encephalopathy.  Sepsis (meningitis, encephalitis)  Metabolic disorders (inborn errors of metabolism)  Intoxication (maternal drugs)  Brain malformation Because the signs and symptoms of HIE are not specific, the abovementioned diagnoses must be considered. Discuss briefly the prevention of respiratory distress syndrome.  Antenatal steroids act on lung fibroblasts to induce fibroblast pneumocyte factor which in turn stimulates surfactant synthesis from type II pneumocytes (maximum benefit is when the baby is delivered between 24 hours and 7 days after the administration of the steroids)  Avoidance of trauma and hypoxaemia during labour (role of Caesarean section)  Prompt and skilled resuscitation at delivery  Hypothermia must be avoided at all costs What complications may occur in an infant whose mother has insulin dependent diabetes mellitus?  Preterm delivery and prematurity  Macrosomia  Birth trauma  Birth asphyxia  Respiratory distress syndrome  Transient tachypnoea of the newborn  Hypoglycaemia  Hypocalcaemia  Polycythaemia  Unconjugated hyperbilirubinaemia  Congenital malformations (6%)  Hypertrophic cardiomyopathy  Small left colon syndrome

 Renal vein thrombosis  Intrauterine foetal death Which infants are at risk of hypoglycaemia? (Causes of hypoglycaemia)  Those with decreased substrate availability as in inadequate glycogen stores o IUGR o Prematurity o Prolonged starvation or delayed feeding  Those with increased glucose utilization as in hyperinsulinism o Infants of diabetic mothers o Hyperplasia of pancreatic ducts o Severe illness  Those with the inability to utilize glucose o Glycogen storage disease o Galactosaemia o Fructosaemia o Other inborn errors of metabolism  Iatrogenic and miscellaneous o Birth asphyxia o Endocrine deficiencies o Hypothermia o Polycythaemia Write short notes on Fallot’s tetralogy. It is an example of a cyanotic congenital heart disease and consists of: - Ventricular septal defects - An overriding aorta - Right ventricular hypertrophy - Pulmonary stenosis Define perinatal mortality rate. What are the main causes of neonatal death? Perinatal mortality rate refers to the number of stillbirths and first week neonatal deaths per 1000 live births and stillbirths. Main causes of neonatal death (death of a live-born infant during the first 28 days of life) are: - Congenital malformations (50%) like NTDs and trisomies - Immaturity (33%) - Asphyxia - Infection - Others Write short notes on cleft palate. A cleft palate may be found alone or may be associated with a cleft lip too. Cleft lip and palate is more common though having an incidence of 1/1000. It is more common in male infants and genetic factors are more important than in cleft palate alone. The incidence of cleft palate alone is 1/2500. Problems associated with cleft palate are: - Recurrent URTIs - Otitis media - Orthodontic problems - Speech problems It is treated by referral to a specialist unit with the palate being repaired at 9 to 12 months to allow maxillary growth and easier surgical access. These infants need long-term follow up because of the

problems abovementioned. Cleft palate may be associated with chromosomal or other congenital anomalies. Describe briefly the main features of the circulation of blood in the foetus.  The placenta is a low resistance pathway that receives about 50% of the total foetal cardiac output  The umbilical vein carries oxygenated blood from the placenta to the foetus  The ductus venosus is a connection between the umbilical vein and IVC which allows 50% of the oxygen-rich blood returning from the placenta to bypass the liver and drain directly into the IVC while the other 50% passes through the liver  The foramen ovale is an opening between the left and right atria which allows 25% of the systemic venous return to be diverted from right to left atrium bypassing the pulmonary circulation while the remaining 75% flows into the right ventricle  The ductus arteriosus is a large opening between the pulmonary artery and aortic arch which shunts 85% of the right ventricular output from the pulmonary artery into the aorta bypassing the pulmonary circulation while the remaining 15% goes to the lungs  Blood from the left atrium then passes into the left ventricle and is then pumped through the aorta to be distributed to the head and upper body (1/3) and rest of the body (2/3)  2 umbilical arteries from the descending aorta carry deoxygenated blood back to the placenta List foetal causes of intrauterine growth retardation.  Chromosomal abnormalities like trisomy 13, 18, 21 and Turner’s syndrome  Congenital infections like TORCH though CMV is most common  Syndrome like the Russell-Silver syndrome List the components of the Apgar score. Which is the most important?  Heart rate (most important)  Respiration (most important)  Tone  Response to stimuli  Colour What do you understand by the term asphyxia? Perinatal asphyxia causes multiorgan failure and exists when an antepartum event, labour or birth process diminishes the oxygen supply to the foetus causing decreased foetal or newborn heart rate and resulting in impairment of exchange of respiratory gases and inadequate perfusion of major organs. Asphyxia has 3 biochemical components: - Hypoxaemia - Hypercapnea - Mixed respiratory and metabolic acidosis Describe the factors that predispose to intraventricular haemorrhage.  Birth asphyxia  Bleeding disorders  Birth trauma  Breech delivery  Prematurity  Pneumothorax  PDA

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RDS Rare in term infants

Write short notes on congenital hypothyroidism. These infants are usually asymptomatic at birth. Physical features that may present though are: - Postmature appearance - Wide fontanelles - Umbilical hernia - Goitre Bone age will show delayed ossification for gestational age. If untreated, severe developmental delay and stunting of growth will occur. Diagnosis is made my neonatal screening involving an ELISA assay of TSH level on the Guthrie card. If the Guthrie card reveals a raised TSH level, the baby’s T4 and T3 levels are measured. If these levels are low, congenital hypothyroidism is diagnosed. In Ireland, 90% of cases are due to thyroid dysplasia or aplasia. The remaining 10% of cases are due to dyshormonogenesis in which the thyroid gland is present but unable to produce sufficient thyroid hormone. Dyshormonogenesis may be associated with sensorineural deafness (Pendred’s syndrome). Treatment is thyroxine replacement hormone once a day for life. Rarely congenital hypothyroidism may be secondary to pituitary or hypothalamic deficiency. In these cases, the Guthrie test will be falsely negative. Breastfed infants with borderline congenital hypothyroidism may also not test positive on screening. Provide reasons why we should persuade mothers to breastfeed their newborn infants.  Immunological (breastmilk is referred to as ‘white blood’ and contains IgA, lymphocytes, and lysozyme which protect the baby against respiratory and gastrointestinal infections)  Nutritional (compared to cow’s milk, it has a better protein content, more suitable fat composition, less sodium and less phosphate and provides all the nutrients required)  Psychological (breastfeeding brings mother and baby closer and is satisfying)  Contraceptive (prolonged breastfeeding delays return of the menses and hence can be used for child spacing)  Economic (it is free)  Breastmilk is easier to digest  Allergy to breastmilk is very rare  There may be a lower risk of SIDS  Breastfed babies are less likely to develop IDDM  Babies who are breastfed for 6 months or more are less likely to develop lymphomas  Less likelihood of developing food allergies  Delays the development of dermatitis  The child may develop a significantly higher IQ  Nursing is a great source of comfort and security to the baby  Breastmilk needs no preparation as it is always ready, always at the right temperature and always in the right amount  Causes contraction of the uterus to its pre-pregnant state  Mothers are less likely to develop breast cancer  It protects against ovarian cancer  Hormones like oxytocin and prolactin help promote bonding and helps mothers relax  Baby’s nappies do not smell or stain as much as those of bottle-fed babies  Decreases pollution of air, water and land by reducing production and packaging  Mothers tend to lose weight faster Describe the clinical features of early onset group B streptococcal sepsis in the neonate.

 Fulminating  Multisystem  Pneumonia is frequent  Clinical features of neonatal infection (refer to page 12) List causes of cerebral palsy. What is its prevalence? Cerebral palsy is a disorder of movement and posture due to a non-progressive lesion of the brain. Its prevalence is 2.3/1000 and its causes can be divided as follows: - Prenatal o Asphyxia o Vascular (haemorrhage, infarction) o Infection o CNS malformation or abnormality - Perinatal o Asphyxia o Infection o Intracerebral haemorrhage o Metabolic o Prematurity - Postnatal o Infection o Cerebral haemorrhage o Trauma o Neoplasia o Asphyxia Write brief notes on meconium aspiration syndrome. Distressed foetuses may pass meconium in utero. Intrauterine hypoxia stimulates bowel peristalsis and causes relaxation of the anal sphincter with subsequent passage of meconium. This condition occurs in mature infants since premature infants only very rarely pass meconium in utero. Meconium-stained liquor in the mouth and upper airway may be inhaled causing airway obstruction and an increased risk of pneumothorax. The meconium may cause a chemical pneumonitis and predisposes the neonate to bacterial infection. Pulmonary hypertension may ensue in some cases. The passage of meconium is one of the signs of foetal distress. The response of the infant to intrapartum asphyxia is to gasp and hence this may cause meconium to be aspirated into the lungs. Clinical features include: - Tachypnoea - Tachycardia - Over-distension of the chest - Radiography shows areas of lung collapse, consolidation and emphysema Treatment of respiratory complications depends on the severity of the aspiration syndrome. Antibiotics may also be given to prevent and treat any pneumonia. Write short notes on Erb’s palsy. Brachial plexus injuries are caused by stretching of the cervical roots during delivery, usually when shoulder dystocia is present. Upper arm palsy (Erb-Duchenne) is the most common brachial plexus injury and is caused by injury to the upper trunk of root values C5 and C6. The elbow will be extended and the forearm pronated with the wrist flexed. This is known as the ‘waiter’s tip’ position. Why does the newborn infant lose weight in the first week?

A newborn infant may lose up to 10% of its birthweight in the first week of life but should regain their birthweight by day 10 of life. During the first 72 hours after birth there is usually a negative balance for electrolytes, calories, nitrogen and water until lactation becomes established. As fluid intake gradually increases over the first few days, there is a transition from negative to positive electrolyte and water balance. Other theories include that the loss of weight is due to loss of fluid the newborn gained in utero. List the factors associated with the occurrence of respiratory distress syndrome.  Prematurity (gestational age is the major determinant, 80% of infants with an L: S ratio of less than 1.5: 1 develop RDS)  Perinatal asphyxia (hypoxia and acidosis reduce surfactant synthesis)  Maternal diabetes (delay in surfactant maturation, IDM are deficient in DPPG)  Caesarean section (prelabour LSCS beyond 32 weeks)  Second twins  Male babies List the causes of hypotonia in the neonate.  Central o Hypoxic ischaemic encephalopathy o Intracranial haemorrhage o Cerebral malformation o Chromosomal disorder o Metabolic disorders like hypothyroidism o Maternal drug ingestion like diazepam  Peripheral o Spinal muscular atrophy o Neuropathy o Neonatal myasthenia o Congenital myopathy o Congenital myotonic dystrophy o Joint or skin laxity syndromes What problems would you anticipate in an infant born alive who has suffered intrauterine growth retardation?  In utero o Stillbirth o Foetal distress during labour  At delivery o Birth asphyxia and its sequelae  Low Apgar scores at 5 minutes  Mixed acidosis  Multiorgan system dysfunction  Hypoxic ischaemic encephalopathy  Neonatal period o Congenital malformations (x 20 fold) o Hypothermia o Hypoglycaemia o Polycythaemia o Cardiorespiratory problems like meconium aspiration o Necrotizing enterocolitis o Hypocalcaemia

What are the clinical features of congenital pyloric stenosis?  Presents as a hungry baby with non-bilious projectile vomiting  Palpable pyloric tumour to the right of the umbilicus  Visible marked peristaltic waves as the infant feeds  Dehydration  Hypokalaemic metabolic acidosis What clinical features are seen in infants who suffer from intrauterine growth retardation?  Decreased subcutaneous fat  Skin may be loose and thin  Decreased muscle mass, especially on the buttocks and thighs  Thin umbilical cord  Infants often exhibit wide-eyed anxious faces  Functionally mature in keeping with gestation  Rapid postnatal weight gain Write brief notes on preventive strategies regarding neural tube defects. All potentially childbearing women are recommended to supplement their dietary folic acid by taking 400 micrograms orally daily for 1 month prior to conception and during the first 3 months of pregnancy. If there is previous family history, women should take a higher dose (4 milligrams). What are effects of excessive alcohol on the foetus?  Increased risk of congenital anomalies  Impaired intellect  Prenatal growth retardation  Postnatal growth retardation  Signs of neurologic abnormalities  Developmental delay  Intellectual impairment  Microcephaly  Microphthalmia +/- narrow palpebral fissures  Poorly developed philtrum of upper lip, thin upper lip or flattening of maxillary area  Cleft palate +/- cleft lip  Ear malformations  Cardiac malformations  Renal malformations  Limb and joint abnormalities Outline briefly the assessment of jaundice in a 4-day-old infant.  History  Physical examination  Laboratory studies  Total and direct bilirubin  Coomb’s test  Blood film, haemoglobin and blood count  MSU (for UTIs)  TFT  Hepatic enzymes  Urinalysis for reducing substances (galactosaemia)  Screening for congenital infection

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Sweat test (for cystic fibrosis) Alpha-1-antitrypsin Liver ultrasound HIDA scan

What clinical features and problems are associated with intraventricular haemorrhage in the newborn? Clinical features include: - Asymptomatic (50%) - Absent or exaggerated Moro reflex - Bulging fontanelle +/- expanding head - Cerebral irritability - Deteriorating feeding skills - Shock - Seizures Problems include: - Early (acute deterioration, apnoea, bradycardia, shock, seizures) - Late (hydrocephalus, post-haemorrhagic ventricular dilatation with inappropriate increase in head circumference, lethargy, drowsiness, vomiting, tense fontanelle, widely spaced sutures, possible requirement of VP shunt) Write brief notes on pathological jaundice. Any jaundice may be pathological but is more likely when: - The jaundice occurs before 24 hours - Serum bilirubin is more than 200 micromoles per litre - There is persistent jaundice after 7 to 10 days Causes include: - Increased production o Haemolysis secondary to blood group incompatibility o Haemolysis associated with erythrocyte abnormalities or red cell enzyme defects o Extravasation of blood/bruising/cephalhaematoma o Polycythaemia o Increased enterohepatic circulation - Reduced excretion o Hypoperfusion of liver o Decreased bilirubin conjugation o Decreased transport of bilirubin out of hepatocytes o Obstruction of the biliary tree (biliary atresia or extrinsic obstruction) o Cholestatic syndromes o Inborn errors of metabolism - Increased production and reduced excretion o Congenital infections o Bacterial sepsis What are the priorities in immediate management of a newborn infant with suspected intestinal obstruction?  Reassurance of parents  Investigations depending on presentation (barium meal for bilious vomiting)  Surgery for duodenal, jejunal or ileal atresia (duodenoduodenostomy)  Gastrogaffin (hydrophilic contrast enema) for meconium ileus softens the meconium

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10 ml/kg of IV fluids to prevent dehydrating effects of gastrogaffin Surgery for meconium ileus if gastrogaffin does not work Rectal washouts for Hirschprung’s disease followed by an endorectal pull through Reduction of hernia under sedation followed by repair 24 to 48 hours later Ladd’s procedure for malrotation

How does hypoglycaemia affect the newborn?  Asymptomatic  Apnoea  Convulsions  Coma  Congestive heart failure  Hypotonia  Irritability  Jitteriness  Tremors  Apathy  Cyanotic spells  Temperature instability  Poor feeding  Refusal to suck  Late morbidity in adult life (NIDDM, IHD, HPT, hyperlipidaemia) Should all infants with features of Down’s syndrome have a chromosome analysis? Why or why not? Management of infants with Down’s syndrome involves confirming the diagnosis by chromosomal analysis and informing the parents of the diagnosis at the earliest opportunity. Information can then be given to the parents on the prognosis and general management. Parents may want to establish links with the local Down’s syndrome association. Genetic counselling about the risk of future children having Down’s syndrome as well as the opportunity for prenatal diagnosis may be offered to the parents. What is the risk of cystic fibrosis in an infant whose older brother is affected with this condition? Cystic fibrosis is a disease with an incidence of 1 in 2000. It is an autosomal recessive disorder with a carrier rate of 1/25. If an infant has a sibling who has the disease, it can be inferred that both parents are carriers of the gene. Hence, the risk of an infant whose older brother has the disease is 1/625 (1/25 x 1/25). How much formula feed does the average term baby require at age 7 to 10 days? What is the normal weight gain in the first weeks of life? How many calories are there in 100 mls of formula? i. 60 mls/kg/day for the 1st 24 hours 80 mls/kg/day for the 2nd 24 hours 100 mls/kg/day for the 3rd 24 hours 120 mls/kg/day for the 4th 24 hours 150 mls/kg/day thereafter ii. There may be loss of up to 10% of birthweight in the first week, regained by 10 days After that, an increase of 200 grams per week is normal up to 3 months of age From 3 to 6 months, an increase of 150 grams per week is seen

iii.

From 6 to 9 months, an increase of 100 grams per week is seen From 9 to 12 months, an increase of 75 grams per week is seen There are 67 kcal in 100 mls of milk (20 kcal = 30 mls = 1 fluid oz)

Describe the clinical features of Down’s syndrome.  General o Hypotonia o Small mouth with a tendency to protrude the tongue o Distended abdomen o Umbilical hernia o Hyperflexibility of joints o Relatively small stature with awkward gait (after infancy) o Short neck  Central nervous system o Mental retardation  Craniofacial o Brachycephaly with flat occiput o Midline parietal hair whorl, hair usually straight and rather sparse o Mild microcephaly with up-slanting palpebral fissures o Late closure of fontanelles o Short hard palate o Small nose with a low flat nasal bridge o Prominent inner epicanthic folds  Eyes o Almond-shaped slanting upwards and outwards o Speckling of iris (Brushfield’s spots) o Peripheral hypoplasia of the iris o Tendency for cataracts o Fine lens opacities o Refractive errors (squints later)  Ears o Small and sometimes low set o Abnormally simple or shell-shaped  Limbs o Broad hands with short fingers of equal length o In-curving of the fifth finger, sometimes with a single crease on that finger o Single Simian palmar crease (95%) (NOT pathognomonic of Down’s syndrome) o Simian foot with a wide gap between big toe and second toe (sandal-gap)  Others o Duodenal atresia, imperforate anus, increased risk of congenital heart disease, ventricular septal defects, ostium primum defects, hypothyroidism (later in life) List causes of increased tone in the neonate.  Asphyxia  Infection  Hypoglycaemia  Hypocalcaemia

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Hypernatraemia Drug withdrawal Intracranial haemorrhage Postmaturity Idiopathic

List the main causes to be considered in a 2-week-old infant who presents with a history of vomiting over 2 days.  Feeding problems o Overfeeding o Excessive handling after feeds o Swallowed wind o Incorrect feed preparation  Neonatal intestinal obstruction o Duodenal atresia o Malrotation o Volvulus o Small bowel atresia o Meconium ileus (between 10% and 20% of infants with CF present with this) o Large bowel obstruction  Ileus o Prematurity o Asphyxia o Exchange transfusion  Septicaemia o UTI o Gastroenteritis o Pneumonia o Meningitis o Omphalitis  Necrotizing enterocolitis  Galactosaemia or congenital adrenal hyperplasia  Gastro-oesophageal reflux List causes of vomiting in an older infant.  Gastroenteritis  UTI  Pyloric stenosis  Regurgitation A newborn baby fails to pass urine in the first 2 days of life. What does this mean? The newborn baby normally passes about 15 ml of urine per day for the first 2 or 3 days. The amount of urine output then increases over the next few days to between 50 ml and 300 ml up to day 10. From day 10 onwards, urinary output is between 210 ml and 450 ml per day. Causes of decreased or absent urinary output include: - Dehydration - Absent urethral orifice - Missed infant micturition - Obstruction in the urinary tract including posterior urethral valve abnormalities

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Renal agenesis Shock

What condition might a baby with CHT have to render the Guthrie test unhelpful? Breastfed infants with borderline congenital hypothyroidism may not test positive on screening, as there may be sufficient T4 in the milk inhibiting a rise in TSH.

List problems that can occur associated with breastfeeding.  Tender nipples  Sore or cracked nipples  Overfull breasts  Blocked milk ducts  Mastitis  Infection and abscess Do newborn infants feel pain?  Yes  Observed by their reactions, for example with injections What causes should be considered in a 1-day-old infant with bilious vomiting?  Jejunal atresia  Ileal atresia  Malrotation  Sepsis  Small bowel obstruction  Large bowel obstruction  Necrotizing enterocolitis What is periventricular leucomalacia?

Write a note on meconium ileus.  Plug of thick meconium obstructing the large bowel  95% of babies with cystic fibrosis present with it  It is associated with poor feeding  Can result in bowel perforation  Gastrogaffin may be used for softening but surgery may be required A mother wants to have her first baby at home. List the points for and against you would put to her.

What are the consequences of hypothermia in the neonate? Hypothermia is defined by a body temperature less than 35 degrees Celsius. It is seen commonly in infants with hypoxic brain damage. Consequences include: - Decreased metabolic rate - Poikilothermia

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Hypoglycaemia Sepsis

What is hydrops of the newborn? It is the most severe form of haemolytic disease of the newborn. The majority are stillborn and if alive, rarely survive longer than 24 hours. There is severe anaemia and intrauterine high output cardiac failure with myocardial damage. There is also increased pressure in the umbilical vein and decreased placental perfusion. Write short notes on vitamin K. Why is it given routinely to newborn infants? Haemorrhagic disease of the newborn is due to deficiency of vitamin K-dependent clotting factors II, VII, IX and X. This disease has declined in incidence due to the routine administration of intramuscular vitamin K at birth. Vitamin K is normally produced by bacterial flora in the GIT but newborns have sterile bowel at birth. Breastfed infants, premature infants, those exposed to perinatal asphyxia or maternal anticonvulsants are most at risk. The disease may present between day 2 and 4 with bruising, bleeding or intracranial haemorrhage. Diagnosis is made by an increased PT and a normal APTT. Treatment is with intramuscular vitamin K and 10 ml/kg IV for active bleeding. What are the priorities in stabilization of an ill newborn infant?  Temperature, blood gases, blood pressure, tissue perfusion, glucose  Complete stabilization may not be possible in some situations (aim for the optimal)  Complications addresses as needed but must be corrected before transfer of infant: o Hypothermia o Hypoxaemia o Hypotension o Poor perfusion o Acidosis o Hypoglycaemia o Fluid/electrolyte deficits  CXR obtained if respiratory distress present  Not essential but a primary diagnosis should try to be made AND  Counselling of parents  Resuscitation with trained personnel at delivery  Oxygen and/or assisted ventilation  Circulatory support with volume expansion  Antibiotics  Monitoring of respirations, heart rate, colour, oxygen saturation, temperature, blood gases, blood glucose, electrolytes, body weight, gastric aspirates  Fluid and nutrition, initially IV dextrose, parenteral/enteral feeds What conditions may need to be considered in an infant who shows signs of an encephalopathy on the first day of life?  Infection  Abnormality of brain blood supply  Tumour Exogenous toxic encephalopathies include: - Maternal drugs - Maternal disease (PKU, thyrotoxicosis) - Infusions

- Vitamin A or D intoxication Endogenous toxic encephalopathies include: - Inborn errors of metabolism - Hypernatraemia - Hypercalcaemia - Hyperbilirubinaemia - Uraemia - Liver failure - Diabetes mellitus Write a brief note on omphalocoele. Exomphalos or omphalocoele is the protrusion of abdominal contents through the umbilical ring covered with a transparent sac. It occurs when there is a defect in the abdominal wall of varying size. There is a 40% incidence of associated anomalies and a 25 – 30% mortality rate. While small ones may epithelialize, large ones need to be surgically corrected. List reasons for which parents should be advised to urgently seek medical advice.  Repeated forceful or projectile vomiting (in contrast to common spitting up or regurgitation)  Poor feeding or refusal of feed  Frequent diarrhoea, with bowel movements becoming more numerous or watery  Excessive constant crying or a continuing cry different from the baby’s usual kind of cry  Rapid laboured breathing or frequent severe coughing (in contrast to common minor breathing irregularities or occasional cough)  Unusual skin rashes  Persistent fever, particularly in the first few months  Basically, any change in the infant’s usual colour, breathing, behaviour or activity What is the neonatal mortality rate? What is the neonatal mortality in Ireland? It refers to the number of deaths of live-born infants with birthweights greater than or equal to 500 grams, during the first 28 days of life per 1000 live births. It is