Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings.
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.
Merrill
Amy
A
Genzyme Genetics, Molecular Diagnostics Laboratory, Westborough, Massachusetts 01581, USA. amy.merrill@genzyme.com
Rosenblum-Vos
Lynne
L
Driscoll
Deborah A
DA
Daley
Katherine
K
Treat
Karen
K
D000015:Abnormalities, Multiple; D000025:Abortion, Eugenic; D000328:Adult; D000649:Amniocentesis; D002478:Cells, Cultured; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D005865:Gestational Age; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D011247:Pregnancy; D016216:Ultrasonography, Prenatal