Neonatal Screening

Neonatal Screening Monitoring • • • • • Dating scan at 8-12 weeks Maternal blood group, antibiotic titres, syphilis & rubella screening. Hep B, C HIV If at risk group – alpha feto protein for Spina Bifida and BHCG for Downs CVS – until 15 wks Amniocentesis – after 15 weeks In Labour • • CTG / HR Scalp blood sample (pH<7.2 à immediate delivery) Neonatal Screen Weight Head Circumference Length (if concerns) History - Maternal history, method of delivery, problems at brith Features of Syndromes o Trisomy 13 (Patau) o Trisomy 18 (Edwards) o Trisomy 21 (Downs) è See section on chromosomes o Fetal alcohol syndrome § A smooth philtrum — flattens with increased prenatal alcohol exposure. § Thin vermilion — thins with increased prenatal alcohol exposure. § Small palpebral fissures — Eye width decreases with increased prenatal alcohol exposure. o Crouzon Syndrome § AD - Long arm Chr 10 § Early fusion of the skull bones (Craniosynostosis) à variety of skull shapes • brachycephaly - fusion of the coronal suture = most common • trigonocephaly - fusion of the metopic suture • dolichocephaly (fusion of the sagittal suture • plagiocephaly - unilateral premature closure of lambdoid and coronal sutures • oxycephaly - fusion of coronal and lambdoidal sutures • Kleeblattschaedel - premature closure of all sutures § Typically low set ears – ears migrate up skull with growth = disrupted. Also ear canal malformation & deafness § Maxiliary hypoplasia, conductive hearing loss & optic atrophy § § § § Exopthalos (shallow sockets due to early fusion) ** Proptosis not seen in Aperts / Carpenters Hypertelorism (increased distance between eyes) Psittichorhina (beak nose) Also mostly have shortened humerus & femur o Treacher-collins § Underdeveloped facial bones esp zygoma § Sunken appearance to mid-face, prominent nose, small jaw & chin § Downward slanting eyes with drooping of lateral lids § Coloboma – notch in junction of lateral 1/3 / medial 2/3 lower eyelid § Malformed / absent ears § Conductive hearing loss § Assoc with cleft lip / palate § Normal intelligence o Potters syndrome § Facial features assoc with insufficient amniotic fluid. § Potter syndrome is due to renal agenesis. Pseudo potter is due to obstruction § Flattened face, beak nose, low set ears, prominent epicanthic folds § Club foot & bowed legs are common § LUNG HYPOPLASIA often à death Skin o Stork mark (Capillary haemangioma) § Fine non raised, pink macules on eyelids, mid forehead & nape of neck. § On face fade over 1st year § On neck become covered with hair o Port wine stain (Naevus Flammeus) § Present from birth § Vascular malformation of dermal capillaries. § Persists (don’t fade with age). § Assoc with 2 syndromes: § Klippel Trenaunay Weber Syndrome • One or more distinctive port-wine stains with sharp borders • Varicose veins • Hypertrophy of bony and soft tissues, that may lead to local gigantism or shrinking. • An improperly developed lymph system § Sturge Weber Syndrome • Port wine stain over 1st trigeminal distribution • • • o Strawberry Naevus (cavernous Haemangioma) § Raised red haemangioma § Usually appear 1-2 weeks after birth. § Increase in size until 6-9 months, then regress § Best left untreated unless causing problems (e.g. over eye). § Kasabach Merritt Syndrome • large (<5cm) / rapidly growing • trap platelets à thrombocytopenia & consumption of clotting factors • Can occur on any area of body o Erythema Toxicum § Common rash § appears at 2-3 days § White pin-point papules on erythematous base. § Mainly on trunk. No significance. o Milia § o Mongolian Blue-Spot § blue / black discolouration to base of spine & buttocks § Mainly afro-carribean / asian infants. § Fade over a few years § White pimples on nose and cheeks Document to exclude later child protection acusation o Congenital melanocytic Naevi § Pigmented plaques often with dense hair growth § Giant (>20mm – 2-5% risk of melanoma) o Harlequin colour change § Red – one side, blanch – other § Due to vasomotor instability § Common in prems Acrocyanosis – blue to hands & feet is NOT abnormal o . Excess capillaries on pia à calcification à loss of nerve cells Neurological Sx worsen with age à convulsions on contralateral side, muscle weakness, some have developmenetal delay & reduced IQ. Can develop glaucoma, bulopthalmus and glaucoma Head shapes o Moulding / caput succedaneum = oedema / moulding of scalp due to passage. Usually resolves in 2-3 days o o o o o o o o o o o Eyes o o o o o o Ears o o o Nose Plagiocephally = parallogram head – flattening of one occiput, thought to be due to position in utero, no pathological significance, improves with age. If persists / develops later implies limited neck rotation on same side as flattening = constant pressure Scaphocephally = long head with flattened temperoparietal region. Common in prems, less obvious with age (can be due to fusion of sagittal suture) Cephalohaematoma – bleeding elevates periosteum, limited to confines of bone & only crosses midline in occipital (uncommon) Fontanelles - Should be soft & flat, visible pulsation of AF is normal, Buldging is ALWAYS abnormal = raised ICP Craniosyntosis – premature fusion of skull bones (1 or more). Most common for sagital suture. Facial bones may be affected e.g. crouzon syn. Generally small AF, ridged suture. Causes abnormal head growth. If sagital suture à scaphocephalic – if suspected à Xray then CT Craniotabes – “ping-pong ball skull”. Softening of skull bones allowing momentary indentation. Common in prems, less in term. Usually no significance but can be assoc with congenital rickets / OI / congenital hypophosphataemia Frontocephaly – coronals / spheno-frontal fusion Occipitocephally – positional Trigonocephaly – metopic suture Turricephally – coronal / spenofrontal Aperts Syndrome § 1 in 160,000 to 200,000 § Autosomal dominant, most cases are sporadic § Malformation of skull, face, hands & feet § Branchial arch disorder § Acrocephalosyndactyly = failure of apoptosis of cells to separate fingers à fused appearance (sometimes inc bones) § Facial features similar to Crouzon Syndome (bones fuse too soon), most commonly brachiocephally § High prominent forehead, flat posterior, broad eyes, flat midface, shallow orbits § Increased ICP à mental retardation § SYNDACTYLY = main feature (see ophthalmology notes for more detail) Hypertelorism = too far apart Hypotelorism = too close together Subconjunctival haemorrhages are not uncommon Excessive lacrimation can be blocked lacrimonasal duct Cornea – should be clear Eyelid oedema – can be present if brow / face presentation Shape varies widely familially § Ear malformations think Treacher Colins Position - top of pinna should be at / above line of inner/outer eye canthi § Low set in various conditions inc potters Pre auricular skin tags / sinuses are common. SHOULD NOT BE tied off if large / multiple à refer plastics. No need for renal US o choanal atresia § can be excluded by passing an NG tube bilaterally § More common to be unilateral (can be bi) and can be bony / membranous Mouth o Lips – familial variation o Clefts = 1/1000 (can be uni / bilateral) § If affected sib/parent risk increased to 1/20 § Isolated cleft palate = 1/2000 – assoc with other malformations but occasionally occurs alone § use torch to examine for cleft, bifid uvula or high arch. Feel for bony cleft with membrane cover o Absent Philtrum & thin vermillion border can be FAS o Palate – epsteins pearls = inclusion cysts in midline of hard palate, should self resolve. o Large Tongue = ? hypothyroid / downs (with small mouth) OR Beckwith-Weidermann syndrome § Beckwith-Wiedemann syndrome (11p15) • Overgrowth disorder present at birth characterized by an increased risk of childhood cancer (Wilms, Hepatoblastoma, adrenal & gonad tumours) and certain features. • Five common features: o macroglossia (large tongue), o macrosomia (birth weight and length >90th percentile), o midline abdominal wall defects (omphalocele, umbilical hernia, diastasis recti), o ear creases or ear pits o neonatal hypoglycaemia (in 30-50%) o Tongue tie = short frenulum, should not be cut, rarely causes speech problems o Jaw – micrognathia = small, underdeveloped = pierre Robin syn with cleft palate & cyanotic spells from tongue obstructing airway o Teeth – natal teeth (mostly lower incisors) – not uncommon, best removed to avoid aspiration o Mucous membs § white = candida / milk curd § blue on floor of mouth = ranula, not Rx o Drooling / excess saliva then ? can swallow – exclude oesophageal atresia or neuromuscular prob Neck o o Sternomastoid tumour § limited lateral rotation = shortening of sternomastoid due to haemorrhage. § Usually mid 1/3 of muscle § Rx with physio Congenital Torticorlis § Birth injury to SCM § Presents between birth & 2 weks § Once swelling settles à fibrosis with tilt and rotation to the affected side therefore affected ear is nearer the shoulder § Facial asymmetry is common § Physiotherapy is helpful § May need surgery o o Turner / Downs = redundant skin at back of neck Turners = low hairline o Klippel Fiel Syndrome § Short neck & limited movement § Low hairline § Fusion of cervical vertebra § Assoc with scolisis, spina bifida, renal & rib anomalies, cleft palate, and in some cases resp & cardiac malformations § Cystic hygroma – swelling to side of neck, transilluminates well Branchial clefts à cysts, sinus or fistula Goitre – always midline Maternal drugs e.f. carbimazole / I2 Errors of metabolism e.g. Pendred’s Syn Maternal Graves (TSH receptor Ab to baby) o o o Chest o Shape, auscultate for heart & lungs (murmurs etc) o Breast engorgement § Occurs commonly in both sexes due to maternal oestrogen. § Milk may come from the nipple and this is NOT abnormal. § DONT express as increased risk of infection o Supernumary nipples – common o Pulses § Radial & femoral pulses should be present § Reduced peripheral suggest hypoplastic left heart / cardiogenic shock § Absent femorals suggest coarctation § Collapsing / bounding pulses suggest delayed closure of duct § Apex beat – 4th IC space, mid clavicular § Left Ventricular impulse at apex, right ventricular impulse at left lower sternal edge § Right sided heart = pneumothorax / diaphragmatic hernia / dextrocardia o On Auscultation – triple / gallop rhythm is always abnormal. Systolic murmurs can be normal in 1st 24 hrs. Abdo o o o o o o o o o , Feel for liver & spleen, healthy umbilicus Distension suggests obstruction / mass Scaphoid suggests diaphragmatic hernia Lax abdo wall = prune belly Divarification of rectus muscles – will disappear with age Liver – normal up to 1cm, increased if hyper-inflated lungs, cardiac failure, sepsis, hepatitis, intrauterine infection or haemolysis Spleen – normal to palpate in ¼ infants. Enlarged suggests infection or haemolysis Kidney – normally palpable if relaxed. Enlarged if wilms, hydronephrosis, cystic. Adrenal mass may be confused Anus – imperforate usually has fistulae to bladder / vagina Umbilicus o 2x thick walled arteries § 1-2% of normal infants have only one artery (3-7% in twins) § If normal prenatal scan then no other Ix required. If no scan then renal US o o o o o § Single artery more common in T18 § 1/3 with single artery will have defects, but defects are often subtle 1x thin walled vein Should usually be translucent, Green = meconium, Yellow = Jaundice Stump § Usually separated at day 10. § Flare = infection. § Urine from stump = patent urachus, § Stool = patent omphalomesenteric duct Granulomata – excessive granulation tissue. Appears as strawberry. RX with silver nitrate Hernia – more common in prems & black. Usually regress by 6-18 months Groin o Should pass urine & stool in 24hrs o Testes § present in 98% of term male infants § Failure to descend by 6w is abnormal § Unilateral undesc à refer to GP to Refer back if not down by 12/12 § Bilateral à D/W seniors ? ix ? chromosomes o Foreskin – shouldn’t be retracted o Hypospadia § ventral surface, most commonly glandular § Epispadia dorsal surface. § Surgery best once out of nappies. o Hydrocele –transillumniates, most disappear in 1st yea\r & no rx req o Inguinal hernia § more common in prems due to patent processus vaginalis. § Surgery req to prevent strangulation o Testicular torsion – urgent surgical opinion o Pink nappies § urates react with urine à pink / red stain in nappy § self limiting to few weeks & no rx required o Hymen – skin tags common – no rx, self regress in few weeks o Hydrometrocolpos – buldging imperforate hymen with accumulation of secretions o Labial Fusion § full fusion = androgenital syndrome § adhesions common in normal children o Mucoid vaginal discharge – common in more mature infants. Thick & white, can last 2-3 weeks o Vaginal bleeding – can be normal o Clitoris – if large consider androgenital syn, maternal progesterone or intersex Legs o (see ortho notes) Clicky Hips, talipes, check numbers of toes Arm & Hand o Single palmar crease (normal in 7% ppl) o Clinodactyly (5th finger curves in), o Brachial Plexus Injury Erbs - C5&6 - internal rotation, inability to flex elbow, waiters tip, fingers can move Klumpke's - C7, 8 T1 - limp hand & fingers don’t move. Can be assoc with Horner’s syndrome (ipsilateral ptosis & meiosis) Complete brachial plexus injury - C5-T1 - entire arm, often assoc with Horner’s, sensory loss in arm. Can have torticollis with head turned AWAY from affected side o Back o CNS o o o Risk factors - forceps & ventouse (shoulders stuck, head stretched away). CAN occur in breech Prognosis - depends on extent of injury. Nerves can be bruised, stretched or avulsed from spine. Failure to show signs of recovery before 4 months & failure of continued improvement are poor signs. Most babies regain some movement in 1st month & --> full recovery. Management - assess & document. Examine for clavicle / humerus #, if unsure --> CXR. Look for Horner’s syn & document. Inform consultant, request physio, 2/52 OP, leaflet to parents. Extra digits – polydactyl = AD inheritance. Usually connected only by skin tag à ortho / plastics removal (see next set of notes) Spine shape, spina bifida, perforate anus Posture § normal = hips abducted & partially flexed, knees flexed & arms adducted & flexed at elbow § Hypotonic – frog position, reduced spontaneous movements § Hypertonic – flexion / extension § Cerebral irritation – extensor posture with arched back, opisthotonus, scissored legs, thumbs tightly adducted Behaviour (Brazeltons classification of behaviour) (i) Quiet sleep (ii) active sleep (iii) Semi-wakeful (iv) Alert awake & co-operative (v) Awake, fussing & uncooperative (vi) Crying Primative Reflexes § Moro – unilateral suggests brachioal plexus / bone injury § Palmar grasp § Tonic neck reflex – turn head to one side à brief extension & increased tone on that side. Abnormal if longer than few sconds § Stepping reflex § Suck & gag – develops @ 35 weeks. Abnormal if absent after 35/40 Weight o Can lose max 10%, should regain within 7 days Vit K - Esp important if breast feeding, prevents haemorrhagic disease of newborn Birth Imms Hep B if mum is +ve (Ig if mum is high risk) BCG if high risk population (>1/40000 e.g. India, Asia, Africa, Portugal) Hearing screen Otoaccoustic emissions – Doesnt check for brain stem response Guthrie Card Taken at d 5 (must be established on enteral feeds) Guthrie Cards Can Help Predict Bad Metabolism Galactosaemia Cystic fibrosis - IRT Congenital adrenal hyperplasia Hypothyroidism - TSH Phenylketonuria – measures phenylalanine Biotidinase deficiency Maple syrup urine disease