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Maternal enzymatic abnormalities 

Maternal enzymatic abnormalities
Maternal enzymatic abnormalities

Harini Narayan

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date: 18 June 2021

C1 inhibitor (C1INH) deficiency, mastocytosis, phenylketonuria (PKU), and alpha-1 antitrypsin deficiency (AATD) are rare enzymatic abnormalities with a significant impact on pregnancy and its outcome. This chapter describes their aetiology, genetics, epidemiology, subtypes, pathophysiology, diagnostic tests and criteria, clinical presentation, and pregnancy complications. The vital role of pre-pregnancy counselling is emphasized. Pregnancy management involves minimizing risks, avoiding triggers, and emergency management of acute attacks. Issues discussed under individual conditions include drugs that can trigger attacks, serial fetal growth monitoring, and mode of delivery. Fact files, care pathways, and patient information are based on up-to-date literature and national PKU guidelines. In poorly controlled PKU, irreversible damage can be caused to by in-utero exposure to high maternal phenylalanine levels. Pre-pregnancy monitoring and advice about continuing contraception until serum phenylalanine levels are in the right range is vitally important. Careful monitoring during pregnancy with close supervision by an experienced dietitian is described.

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