Prenatal diagnosis of chromosomal abnormalities in a resource-poor setting

Date
2008
Authors
Geerts L.
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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. © 2008 International Federation of Gynecology and Obstetrics.
Description
Keywords
article, chromosome aberration, conception, controlled study, human, karyotyping, maternal age, prenatal diagnosis, priority journal, risk assessment, screening, trisomy, ultrasound, Adolescent, Adult, Age Factors, Algorithms, Chromosome Disorders, Female, Health Services Accessibility, Humans, Karyotyping, Middle Aged, Pregnancy, Retrospective Studies, Risk Adjustment, Sensitivity and Specificity, Trisomy, Ultrasonography, Prenatal, Young Adult
Citation
International Journal of Gynecology and Obstetrics
103
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