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Fetal abnormalities 

Fetal abnormalities
Fetal abnormalities

Harini Narayan

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date: 16 June 2021

This chapter includes a wide range of abnormalities including fetal hydronephrosis, autosomal recessive (infantile) polycystic kidney disease, exomphalos, gastroschisis, congenital diaphragmatic hernia, sacrococcygeal teratoma, cystic and cervical teratomas, congenital cystic adenomatous malformation, Dandy-Walker malformation, choroid plexus cysts, rhabdomyomas, tuberous sclerosis, and arthrogryposis multiplex congenita. Aspects of epidemiology, genetics, syndromic malformations, diagnosis, degrees of severity, prognostic factors and management options are discussed for each condition as well as tertiary centre referral for multidisciplinary assessment and joint management. Prenatal or neonatal/infant surgery (available for some abnormalities) and its success rates are outlined. Further antenatal assessments, joint decisions with parents regarding timing, place and mode of delivery are incorporated in the care pathways for each condition as are further postnatal investigations and longer-term paediatric follow-up. Sensitive discussions regarding possible termination of pregnancy in cases with bleak prognosis and seeking permission for autopsy are highlighted as is the counselling and support parents need.

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