Category Archives: Congenital anomalies

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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Tip 5: audiology

About 1 in 850 babies born in the UK will have a permanent childhood hearing impairment. This increases to about 1 in 350 babies who have been in NICU for >48 hours. External link: NHS Newborn Hearing Screening Programme

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Tip 231: tongue-tie

Tongue-tie (ankyloglossia) is a short lingual frenulum that restricts tongue protrusion and may be present in up to 30% of babies. Though most infants are asymptomatic, when severe it can interfere with latching and effective breast-feeding. Lactation support may resolve … Continue reading

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