Category Archives: Congenital anomalies

Tip 80: hydrops fetalis

Hydrops fetalis is defined as the accumulation of abnormal fluid in at least two different fetal compartments (e.g. subcutaneous oedema, pleural effusion, pericardial effusion, ascites). Polyhydramnios is often associated. Reference: Désilets, V., Audibert, F., Wilson, R., Brock, J. A., Carroll, J., Cartier, L., … Continue reading

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Tip 77: clinodactyly

Although 5th finger clinodactyly is associated with some syndromes (e.g. Down syndrome), it is a common minor abnormality with a UK population incidence of ~1% Reference: Rennie & Roberton’s Textbook of Neonatology, 5th Ed, 2005. London: Churchill.  

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Tip 74: phenylketonuria (PKU)

PKU is caused by mutation to the phenylalanine hydroxlase (PAH) gene on chromosome 12q. It has autosomal recessive inheritance. Incidence is ~1:10,000 – 1:15,000 (USA). Early and life-long treatment with a low phenylalanine diet prevents serious outcomes (intellectual disability, seizures). … Continue reading

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Tip 57: posterior urethral valves

In bilateral antenatal renal pelvis dilatation, an urgent ultrasound scan is needed after birth to look for residual significant renal pelvis dilatation (over 10mm) and any dilated ureter or thickened bladder wall that may signify posterior urethral valves. A normal … Continue reading

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Tip 43: congenital cataracts

Absence of a red reflex is an important finding on newborn examination and could be caused by congenital cataracts (incidence 2.5/10,000). The most common cause is idiopathic (40-50%) but they are also linked to trisomy 21, viral or parasitic intrauterine … Continue reading

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Tip 42: developmental dysplasia of the hip (DDH) 2

If clinical examination suggests congenital dislocation of the hip, then referral should be made immediately to an orthopaedic specialist and they should be seen within 2 weeks. Regardless of clinical examination findings, the following should be referred for hip USS within … Continue reading

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Tip 41: congenital heart disease

The prevalence of structural congenital heart disease is approximately 5 per 1,000 total births (~0.5%). The antenatal diagnosis of serious congenital heart disease is only 50%. The incidence of heart murmurs on day 1 examination, however, may be as high as … Continue reading

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