Department of Gynecology and Obstetrics, Affiliate Hospital of Inner Mongolia Medical University, Hohhot 010050, Inner Mongolia, P.R. China.
The Ultrasonic Department, Affiliate Hospital of Inner Mongolia Medical University, Hohhot 010050, Inner Mongolia, P.R. China.
J Perinat Med. 2019 Aug 27;47(6):651-655. doi: 10.1515/jpm-2019-0005.
Background Classical karyotyping and copy-number variation sequencing (CNV-seq) are useful methods for the prenatal detection of chromosomal abnormalities. Here, we examined the potential of using a combination of the two methods for improved and accurate diagnosis. Methods From February 2013 to January 2018, 64 pregnant women showing indications for fetal chromosomal examination in the affiliated hospital of the Inner Mongolia Medical University were selected for this study. Amniotic fluid was collected and used for karyotype analysis and CNV-seq. Results Karyotype analysis of the 64 cases showed that six cases (9.38%) had chromosomal abnormalities. Using CNV-seq, in addition to three cases with numerical abnormalities of chromosomes, 14 cases were detected with CNV, of which five were pathogenic CNV, four were of uncertain clinical significance and five were polymorphic CNV. However, CNV-seq failed to detect one case with sex chromosome mosaicism and a balanced translocation carrier. The rate of abnormal chromosome and CNV detection was 26.56% (17/64) by CNV-seq. Conclusion Application of CNV-seq in prenatal diagnosis could allow the detection of submicroscopic chromosomal abnormalities and effectively reduce the birth of children with microdeletion and microduplication syndrome. Additionally, the combined application of karyotype analysis and CNV-seq can effectively improve the detection rate of chromosome abnormalities.
背景 传统核型分析和拷贝数变异测序（CNV-seq）是产前检测染色体异常的有用方法。在这里，我们研究了将这两种方法结合使用以提高和准确诊断的潜力。
方法 从 2013 年 2 月至 2018 年 1 月，选择了 64 名在内蒙古医科大学附属医院有胎儿染色体检查指征的孕妇进行本研究。采集羊水进行核型分析和 CNV-seq。
结果 64 例的核型分析显示 6 例（9.38%）存在染色体异常。使用 CNV-seq，除了 3 例染色体数目异常外，还检测到 14 例 CNV，其中 5 例为致病性 CNV，4 例为临床意义不确定，5 例为多态性 CNV。然而，CNV-seq 未能检测到 1 例性染色体嵌合体和 1 例平衡易位携带者。CNV-seq 检测异常染色体和 CNV 的发生率为 26.56%（17/64）。
结论 在产前诊断中应用 CNV-seq 可以检测亚微观染色体异常，并有效降低微缺失和微重复综合征患儿的出生率。此外，核型分析和 CNV-seq 的联合应用可以有效提高染色体异常的检测率。
