Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. Methods CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV). Results Among the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balanced), 52 (0.6%) without karyotyping results, and 8431 (89.2%) normal cytogenetic karyotypes. Among the 8705 cases with normal karyotype, polymorphism, mutual translocation, or marker chromosome, CNV-Seq detected 63 cases (0.7%) of pathogenic chromosome microdeletion/duplication. Retrospectively, noninvasive prenatal testing (NIPT) had high sensitivity and specificity for the screening of fetal pathogenic CNV, and NIPT combining with maternal age, maternal serum screening or fetal ultrasound scanning, which improved the screening performance. Conclusion The combined application of cytogenetic karyotyping and CNV-Seq significantly improved the detection rate of fetal pathogenic chromosome microdeletion/duplication. NIPT was recommended for the screening of pathogenic chromosome microdeletion/duplication, and NIPT combining with other screening methods further improved the screening performance for pathogenic fetal CNV.
基金：
1 Major Scientific and Technological Project of Yunnan Province: Yunnan
Provincial Clinical Research Center for Birth Defects and Rare Diseases (Grant
Number: 2019ZF015, 201901–202012).
2 Yunnan Provincial Medical Leading Scholar Program - Obstetrics by the
Health Department of Yunnan Province (Grant Number: D-2018055, 202001–
202212).
3. Research on the Key Technologies of Applicable Clinical Medicine in
Yunnan Province: Research on Key Technologies of Screening and
Intervention for Maternal and Child Health in Elderly or Re-procreating Families. (Grant Number: 2018ZF009, 201801–202012).
第一作者机构：[1]Kunming Univ Sci & Technol, Fac Environm Sci & Engn, Kunming 650500, Yunnan, Peoples R China[2]First Peoples Hosp Yunnan Prov, Dept Obstet & Gynecol, 157 Jinbi Rd, Kunming 650032, Yunnan, Peoples R China
通讯作者：
通讯机构：[1]Kunming Univ Sci & Technol, Fac Environm Sci & Engn, Kunming 650500, Yunnan, Peoples R China[2]First Peoples Hosp Yunnan Prov, Dept Obstet & Gynecol, 157 Jinbi Rd, Kunming 650032, Yunnan, Peoples R China
推荐引用方式(GB/T 7714)：
Zhang Jinman,Tang Xinhua,Hu Jilin,et al.Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis[J].BMC PREGNANCY AND CHILDBIRTH.2021,21(1):doi:10.1186/s12884-021-03918-y.
APA：
Zhang, Jinman,Tang, Xinhua,Hu, Jilin,He, Guilin,Wang, Jian...&Zhu, Baosheng.(2021).Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis.BMC PREGNANCY AND CHILDBIRTH,21,(1)
MLA：
Zhang, Jinman,et al."Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis".BMC PREGNANCY AND CHILDBIRTH 21..1(2021)
医学