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Prenatal diagnosis of chromosomal abnormalities in a resource‐poor setting
Author(s) -
Geerts Lut
Publication year - 2008
Publication title -
international journal of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.895
H-Index - 97
eISSN - 1879-3479
pISSN - 0020-7292
DOI - 10.1016/j.ijgo.2008.05.028
Subject(s) - medicine , trisomy , prenatal diagnosis , karyotype , obstetrics , advanced maternal age , fetus , ultrasound , aneuploidy , chromosome , pediatrics , gynecology , pregnancy , genetics , radiology , biology , gene
Abstract Objective To compare the efficacy and efficiency of systematic, ultrasound‐based risk adjustment using a published algorithm with that of a maternal age cutoff of 37 years for the prenatal detection of chromosomal abnormalities (especially autosomal trisomies). Methods These approaches were compared in a retrospective study of 136 chromosomal abnormalities confirmed by karyotyping prenatally (n = 46) or postnatally (n = 90). There were 114 autosomal trisomies. Results Maternal age was known for 103 fetuses with confirmed abnormalities. The ultrasound‐based risk adjustment approach was more sensitive for autosomal trisomy (93.9% vs 44.1%), and karyotyping for younger women with abnormalities on ultrasound was more effective than routine karyotyping in older women (1 trisomy detected in 13.5 vs 42.8 samples, P < 0.001). A lack of screening was the main reason for the postnatal diagnosis. Conclusion Ultrasound‐based risk adjustment was the more effective approach.