Skip Navigation LinksHome > April 2007 - Volume 44 - Issue 4 > Prenatal Molecular Diagnosis of Inherited Cholestatic Diseas...
Journal of Pediatric Gastroenterology & Nutrition:
doi: 10.1097/MPG.0b013e318036a569
Original Articles: Hepatology & Nutrition

Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases

Jung, Camille*; Driancourt, Catherine; Baussan, Christiane; Zater, Mokhtar; Hadchouel, Michelle*,†; Meunier-Rotival, Michèle; Guiochon-Mantel, Anne§; Jacquemin, Emmanuel*,†

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Objectives: Progressive familial intrahepatic cholestasis (PFIC) and to a lesser extent, Alagille syndrome, often lead to end-stage liver disease during childhood. We report our experience of DNA-based prenatal diagnosis of PFIC1–3 and Alagille syndrome.

Patients and Methods: Four molecular antenatal diagnoses were performed in 3 PFIC families and 17 in 11 Alagille syndrome families. DNA was isolated from chorionic villus or cultured amniocyte samples from women, without pregnancy complications.

Results: All four foetuses with a family history of PFIC1, 2, or 3 were heterozygous for an ATP8B1, ABCB11, or ABCB4 mutation and pregnancies were continued. Three of the infants were healthy after birth, and 1 premature infant, who had an ABCB4 mutation, experienced transient neonatal cholestasis. Among the families with a history of de novo JAG1 mutation, none of the foetuses was mutated, versus 40% of those with a history of familial mutation. Of 4 pregnant women with a JAG1-mutated foetus, 3 cut short their pregnancy and 1 gave birth to a child with overt Alagille syndrome.

Conclusions: Molecular antenatal diagnosis of PFIC1–3 and Alagille syndrome is reliable because clinical outcome after birth corresponded to molecular foetal data.

© 2007 Lippincott Williams & Wilkins, Inc.


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