Category Archives: Congenital anomalies

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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Tip 13: cleft lip and palate

Cleft lip with/without cleft palate is diagnosed antenatally in 70% of cases. So, the rest are diagnosed on routine neonatal examination – don’t just palpate – look! They should all be referred to a regional service. External links: Cleft Lip and … Continue reading

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Tip 12: congenital anomaly register

Public Health England took over the national congenital anomalies register (previously BINOCAR) from April 2015, called ‘The National Congenital Anomaly and Rare Disease Registration Service’. Overall, about 1 in 20 babies are born with a congenital anomaly. External link: National … Continue reading

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Tip 11: congenital adrenal hyperplasia

Incidence is 1:18,000 (girls=boys) ~90% have 21-hydroxylase deficiency ~50% present as a neonate (girls mainly with virilised genitalia, boys mainly with salt-wasting crisis) External links: Khalid, JM., et al. Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch … Continue reading

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Tip 7: developmental dysplasia of the hip (DDH)

Regarding multiple births, if any baby falls into a category requiring screening for DDH (including breech position), they should all be screened. Reference: Newborn and Infant Physical Examination Screening Programme Standards 2016/17. Publication Date: April 2016. PHE publications gateway number: 2015772

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