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Copyright © 2008 Published by Elsevier Masson SAS
Cas clinique
Le diagnostic anténatal d’atrésie bronchique est-il possible ?
Results. — In eight of the 56 families ARPKD was excluded on the basis of histological (seven cases) and/or genetic (two cases) criteria. Molecular study was impossible in three families due to the lack of index case's DNA, and two other families were non-informative. Among the 43 families in which prenatal diagnosis was feasible, analysis of the haplotype of 35 fetuses issued from 29 families showed that 11 fetuses with the same haplotypes as that of the index case were affected, while 24 were not. No false positive or false negative result was reported.
Conclusions. — Early and reliable prenatal diagnosis of recessive polycystic kidney disease is possible in nearly 80%of affected families.
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Le diagnostic anténatal d’atrésie bronchique est-il possible ?