Prenatal molecular diagnosis of inherited cholestatic diseases.
J Pediatr Gastroenterol Nutr
; 44(4): 453-8, 2007 Apr.
Article
em En
| MEDLINE
| ID: mdl-17414143
ABSTRACT
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 ANDMETHODS:
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.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Colestase Intra-Hepática
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article