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Prediction of an abnormal karyotype in fetuses with omphalocele
Author(s) -
de Veciana M.,
Major C. A.,
Porto M.
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970140613
Subject(s) - omphalocele , karyotype , fetus , medicine , aneuploidy , obstetrics , prenatal diagnosis , biology , pregnancy , chromosome , genetics , gene
The aim of this study was to assess the value of ultrasonographic evaluation in predicting abnormal karyotypes in fetuses with omphalocele. Forty fetuses with antenatally diagnosed omphalocele and available karyotype results were reviewed. Ultrasound evaluation included herniation contents and size, and the detection of other anomalies. Nine of 40 consecutive fetuses had abnormal karyotypes: trisomy 18 ( n = 5), trisomy 13 ( n = 3), 47,XXX ( n = 1). Only 1/25 with an extracorporeal liver versus 8/15 with an intracorporeal liver had abnormal chromosomes [ P = 0·0006, RR = 0·14 (0·02 < RR <0·9)]. Small defects (<3 cm) were associated with abnormal karyotypes [ P = 0·01, RR = 4·7 (1·4