Non-invasive prenatal detection for copy number variation
CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY(2018)
摘要
Aim: To assess the technology of non-invasive prenatal testing (NIPT) and the robust mathematical model fetal copy-number analysis through maternal plasma sequencing (FCAPS) detecting large fetal deletions or duplications. Materials and Methods: Peripheral venous blood were taken from three pregnant women with high risk, and maternal plasma DNA were extracted and detected by NTPT and FCAPS. The results were validated through Array-CGH or karyotyping with amniotic fluid or umbilical cord blood obtained from the patients. Results: One out of three cases was positive by NTPT, but all were found with abnormalities by FCAPS. The results were further confirmed using array-CGH or karyotyping. Discussion: This study provides novel insights into noninvasive prenatal diagnosis using low-coverage maternal plasma sequencing to detect large fetal deletions or duplications, as well as correlations between fetal genotypes and phenotypes.
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关键词
noninvasive prenatal testing,copy number variation,cell-free fetal DNA
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