Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings.

Abstract:

:Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997). We describe two cases in which second-trimester sonographic findings led to parental carrier testing for FA-C and subsequent prenatal diagnosis of affected fetuses.

journal_name

Prenat Diagn

journal_title

Prenatal diagnosis

authors

Merrill A,Rosenblum-Vos L,Driscoll DA,Daley K,Treat K

doi

10.1002/pd.1055

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

20-2

issue

1

eissn

0197-3851

issn

1097-0223

journal_volume

25

pub_type

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