{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T11:29:54Z","timestamp":1773142194635,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,4,1]],"date-time":"2007-04-01T00:00:00Z","timestamp":1175385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives:<\/jats:title><jats:p>Progressive familial intrahepatic cholestasis (PFIC) and to a lesser extent, Alagille syndrome, often lead to end\u2010stage liver disease during childhood. We report our experience of DNA\u2010based prenatal diagnosis of PFIC1\u20133 and Alagille syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods:<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>All four foetuses with a family history of PFIC1, 2, or 3 were heterozygous for an <jats:italic>ATP8B1, ABCB11<\/jats:italic>, or <jats:italic>ABCB4<\/jats:italic> mutation and pregnancies were continued. Three of the infants were healthy after birth, and 1 premature infant, who had an <jats:italic>ABCB4<\/jats:italic> mutation, experienced transient neonatal cholestasis. Among the families with a history of de novo <jats:italic>JAG1<\/jats:italic> mutation, none of the foetuses was mutated, versus 40% of those with a history of familial mutation. Of 4 pregnant women with a <jats:italic>JAG1<\/jats:italic>\u2010mutated foetus, 3 cut short their pregnancy and 1 gave birth to a child with overt Alagille syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>Molecular antenatal diagnosis of PFIC1\u20133 and Alagille syndrome is reliable because clinical outcome after birth corresponded to molecular foetal data.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e318036a569","type":"journal-article","created":{"date-parts":[[2007,3,19]],"date-time":"2007-03-19T08:01:10Z","timestamp":1174291270000},"page":"453-458","source":"Crossref","is-referenced-by-count":32,"title":["Prenatal Molecular Diagnosis of Inherited Cholestatic Diseases"],"prefix":"10.1002","volume":"44","author":[{"given":"Camille","family":"Jung","sequence":"first","affiliation":[{"name":"Pediatric Hepatology and National Reference Centre for Biliary Atresia University of Paris\u2010South XI, AP\u2010HP Paris 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