title: Early prenatal diagnosis of familial intestinal polyatresia (FIPA) in a 19 weeks old fetus with sonographic and postmortem findings.
abstract: Familial intestinal polyatresia (FIPA) is a rare autosomal recessive disorder. In this article we present a new prenatally diagnosed case with FIPA from consanguineous parents with two affected daughters. The fourth pregnancy was diagnosed prenatally with FIPA at 18 weeks sonographically and these findings were confirmed by postmortem examination.
authors.affiliation: Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Doğramaci Children's Hospital, Ankara, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Balci
authors.forename: S
authors.initials: S
authors.lastname: Bostanoğlu
authors.forename: G
authors.initials: G
authors.lastname: Altinok
authors.forename: M S
authors.initials: MS
authors.lastname: Beksaç
mesh_terms: D000028:Abortion, Induced; D003241:Consanguinity; D005260:Female; D006801:Humans; D007409:Intestinal Atresia / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D014421:Turkey; D016216:Ultrasonography, Prenatal