Karyotype versus microarray testing for genetic abnormalities after stillbirth

作者: Uma M Reddy , Grier P Page , George R Saade , Robert M Silver , Vanessa R Thorsten

DOI: 10.1056/NEJMOA1201569

关键词:

摘要: In our analysis of samples from 532 stillbirths, microarray yielded results more often than did karyotype (87.4% vs. 70.5%, P<0.001) and provided better detection genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% 5.8%; P = 0.007). Microarray also identified among 443 antepartum stillbirths (8.8% 6.5%, 0.02) 67 with congenital anomalies (29.9% 19.4%, 0.008). As compared analysis, a relative increase in the di agnosis 41.9% all 34.5% 53.8% anomalies. Conclusions is likely to provide agnosis, primarily because its success nonviable tissue, especially valuable analyses cases which cannot be obtained. (Funded by Eunice Kennedy Shriver Na tional Institute Child Health Human Development.)

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