Key Facts

The neonatal examination is a key screening opportunity to identify congenital abnormalities and conditions that benefit from early treatment. The NIPE programme is a national NHS screening programme.

Epidemiology

Approximately 650,000 babies are born in England each year. Congenital heart disease affects ~8 per 1,000 live births. DDH affects ~1-3 per 1,000. Undescended testes affect ~3-5% of term boys. Congenital cataracts affect ~3 per 10,000.

Aetiology

The NIPE programme screens for conditions where early detection improves outcome:

• Eyes: Congenital cataracts, retinoblastoma
• Heart: Congenital heart disease (structural)
• Hips: Developmental dysplasia of the hip
• Testes: Undescended testes (cryptorchidism)

Pathophysiology

DDH: Spectrum from acetabular dysplasia to complete dislocation. Risk factors include breech presentation, family history, female sex, first-born, oligohydramnios. Early detection allows Pavlik harness treatment (splintage) which is successful in >90% if started before 6 weeks.

Congenital heart disease: Structural defects in cardiac development. Critical CHD (duct-dependent) may present with cyanosis or collapse as the ductus arteriosus closes in the first days of life.

Systematic Neonatal Examination

• General: Colour, tone, activity, cry, dysmorphic features
• Head: Fontanelles (anterior — closes 12-18 months; posterior — closes 6-8 weeks), moulding, cephalhaematoma, sutures
• Eyes: Red reflex (bilateral), pupil size, discharge
• Mouth: Palate (feel for cleft), tongue-tie, natal teeth
• Cardiovascular: Heart rate, rhythm, murmurs (position, grade), femoral pulses (absent/weak → coarctation), pre- and post-ductal SpO2
• Respiratory: Rate, symmetry, grunting, recession, breath sounds
• Abdomen: Organomegaly, masses, umbilicus
• Genitalia: Testes (palpable, position), hypospadias, ambiguous genitalia
• Hips: Barlow (dislocatable?) and Ortolani (reducible?) tests
• Spine: Midline defects (dimple, tuft of hair, swelling → spinal dysraphism)
• Skin: Birthmarks, rashes (erythema toxicum, milia, Mongolian blue spots)
• Neurology: Tone, posture, primitive reflexes (Moro, grasp, rooting)

Red Flags

• Absent red reflex — retinoblastoma or cataract; urgent ophthalmology
• Central cyanosis — congenital heart disease until proven otherwise
• Absent femoral pulses — coarctation of the aorta
• Ambiguous genitalia — endocrine emergency; do NOT assign sex
• Midline spinal defect — USS spine before 6 weeks (or MRI after)
• Bilious (green) vomiting — malrotation until proven otherwise

Bedside

• Pulse oximetry screening: Pre-ductal (right hand) and post-ductal (either foot) SpO2; difference >3% or SpO2 <95% → echocardiography
• Weight: Birth weight, daily weights if concerns
• Blood glucose: If risk factors (SGA, LGA, maternal diabetes)

Bloods

• Newborn bloodspot screening (day 5): PKU, congenital hypothyroidism, sickle cell, CF, MCADD, and 5 other IEMs
• SBR (serum bilirubin): If jaundice <24h or clinically significant
• Blood group and DAT (Coombs): If early jaundice

Imaging

• USS hips: Indicated if positive Barlow/Ortolani, risk factors (breech, family history, foot deformity)
• Echocardiography: If murmur with features of concern, absent femoral pulses, or abnormal pulse oximetry
• USS spine: Before 6 weeks if midline defect (sacral dimple with concerning features)

Special Tests

• Newborn hearing screening (NHSP): Automated auditory brainstem response (AABR) or otoacoustic emissions (OAE) — within first few weeks

Non-pharmacological

• NIPE examination: Within 72 hours and repeated at 6-8 weeks
• Breast/bottle feeding support: Establish feeding; weight check at day 5
• Skin-to-skin contact: Promotes bonding, thermoregulation, breastfeeding
• Safe sleeping advice: Back to sleep, feet to foot of cot, no co-sleeping with risk factors (SIDS prevention)

Pharmacological

• Vitamin K: IM 1mg (single dose) or oral 2mg at birth, 1 week, 4 weeks — prevents VKDB
• Hepatitis B vaccine: Within 24 hours if mother HBsAg positive + HBIG
• BCG vaccine: For babies at increased risk of TB

Referral Criteria

• Absent red reflex — urgent ophthalmology (within 2 weeks)
• Suspected CHD (murmur + cyanosis/absent femorals/abnormal SpO2) — urgent echo
• Positive Barlow/Ortolani — USS hips at 2 weeks
• Undescended testis — review at 6-8 weeks; surgery referral by 6 months
• Ambiguous genitalia — endocrine/DSD team urgently
• Suspected genetic syndrome — clinical genetics

• DDH: >90% success with Pavlik harness if detected early (<6 weeks); late detection requires surgery and has worse outcomes
• CHD: Depends on lesion; duct-dependent lesions need prostaglandin to maintain ductal patency; surgical outcomes greatly improved
• Undescended testis: Spontaneous descent in ~70% by 3 months; orchidopexy before 12 months reduces infertility and malignancy risk
• Congenital cataracts: Good visual outcome if operated within first 6-8 weeks of life
• Newborn screening: Early treatment of PKU, hypothyroidism, and sickle cell disease dramatically improves long-term outcomes

NIPE Screening — Four Key Areas

Newborn Bloodspot Screening (9 Conditions)