Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing

American Journal of Obstetrics and Gynecology
Jing WangHongqian Liu

Abstract

Next-generation sequencing is emerging as a viable alternative to chromosome microarray analysis for the diagnosis of chromosome disease syndromes. One next-generation sequencing methodology, copy number variation sequencing, has been shown to deliver high reliability, accuracy, and reproducibility for detection of fetal copy number variations in prenatal samples. However, its clinical utility as a first-tier diagnostic method has yet to be demonstrated in a large cohort of pregnant women referred for fetal chromosome testing. We sought to evaluate copy number variation sequencing as a first-tier diagnostic method for detection of fetal chromosome anomalies in a general population of pregnant women with high-risk prenatal indications. This was a prospective analysis of 3429 pregnant women referred for amniocentesis and fetal chromosome testing for different risk indications, including advanced maternal age, high-risk maternal serum screening, and positivity for an ultrasound soft marker. Amniocentesis was performed by standard procedures. Amniocyte DNA was analyzed by copy number variation sequencing with a chromosome resolution of 0.1 Mb. Fetal chromosome anomalies including whole chromosome aneuploidy and segmental imbalances...Continue Reading

Citations

Aug 27, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Huilin WangKwong Wai Choy
Aug 9, 2019·Molecular Cytogenetics·Xiaoqing WuYuan Lin
May 27, 2020·Human Genetics·Matthew Hoi Kin ChauZirui Dong
May 8, 2020·American Journal of Obstetrics and Gynecology·Xin KangJacques C Jani
Jan 22, 2021·The Journal of Obstetrics and Gynaecology Research·Panlai ShiXiangdong Kong
Feb 23, 2021·The Journal of Gene Medicine·Liubing LanZhiyuan Zheng
Jun 22, 2021·Journal of Obstetrics and Gynaecology of India·Meena Bajaj LallI C Verma
Aug 19, 2021·Journal of Cellular and Molecular Medicine·Xiaoqing WuHailong Huang

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