Novel rapid molecular diagnosis of fetal chromosomal abnormalities associated with recurrent pregnancy loss

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• 作者：Lan Yang ; Ye Tang ; Mudan Lu ; Yuefen Yang ; Jianping Xiao ; Qiaoxia Wang ; Canfeng Yang ; Hehua Tao ; Jingying Xiang
• 刊名：Acta Obstetricia et Gynecologica Scandinavica
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：95
• 期：12
• 页码：1433-1440
• 全文大小：734.9KB
• ISSN：1600-0412

文摘

Labor-intensive karyotyping is used as the reference standard diagnostic test to identify copy number variants (CNVs) in the fetal genome after recurrent pregnancy loss. Our aim was to present and evaluate a novel molecular assay called CNVplex that could potentially be used as an alternative method to conventional karyotyping for diagnosing fetal chromosomal abnormalities associated with recurrent pregnancy loss.