Category Archives: Congenital anomalies

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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Tip 22b: congenital diaphragmatic hernia (CDH)

Postnatal morbidity is mainly due to pulmonary hypoplasia (depending on the amount of abdominal contents in the thorax) and persistent pulmonary hypertension of the newborn (PPHN). Postnatal survival ranges from 50 to 95%, thought to be mainly influenced by the size of the defect. References: Field D, … Continue reading

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Tip 22a: congenital diaphragmatic hernia (CDH)

Congenital diaphragmatic hernia (CDH) occurs in 1: 3 – 4,000 live births. Nearly 70% are diagnosed antenatally and about 30% of total cases die antenatally as a result of miscarriage or termination. 85% of congenital diaphragmatic hernia (CDH) is left-sided. … Continue reading

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Tip 21b: maternal diabetes

The rates of all of the following are significantly higher in women with diabetes or their babies compared to matched controls: Preterm birth (31% vs. 10%) Macrosomia (41% vs. 16%) Hypoglycaemia (14% vs. 1%) Jaundice (46% vs. 23%) Respiratory distress (12% vs. 1%). … Continue reading

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