Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Author:

Dai Rulin,Yu Yang,Xi Qi,Hu Xiaonan,Zhu Haibo,Liu Ruizhi,Wang RuixueORCID

Abstract

Abstract Background Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to determine the relationships between fetal chromosomal abnormalities and indicators of prenatal abnormalities in Northeast China. Methods We evaluated 4953 16- to 23-week singleton gestation cases using amniocentesis and a total of 3583 participants received serological screening. Fetal chromosomal analyses were performed for all samples using fluorescence in situ hybridization and karyotyping. Results Among these samples, 204 (4.12%) had fetal chromosomal abnormalities. A total of 3583 participants received serological screening, among whom 102 (2.85%) exhibited positive results. A total of 309 participants had ultrasonography; 42 (13.6%) of these had abnormalities. Among 97 participants who had non-invasive prenatal testing (NIPT), 59 (61%) had positive results. Among 1265 participants with advanced maternal age, 78 (6.2%) had abnormal results. Conclusion The serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates. Although they are both prenatal screening techniques, maternal serum screening cannot be replaced by NIPT. The pregnancy women should accept NIPT in a qualified prenatal diagnostic center. We recommend that pregnant women at high or critical risk undergoing prenatal screening should confirm the fetal karyotype through amniocentesis. Moreover, if women receive a positive result via NIPT, they should not have a pregnancy termination without undergoing further prenatal diagnosis.

Funder

“Thirteenth Five-Year” Science and Technology Program of Jilin Provincial Education department

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Reference42 articles.

1. Sheth F, Rahman M, Liehr T, Desai M, Patel B, Modi C, et al. Prenatal screening of cytogenetic anomalies-a Western Indian experience. BMC Pregnancy Childbirth. 2015;15:90.

2. Zhang L, Zhang XH, Liang MY, Ren MH. Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women. Chin Med J (Engl). 2010;123(4):423–30.

3. Grether-González P, Cámara-Polanco V, Ulloa-Avilés V, Salas-Labadia C, Almanza-Márquez R, Kogan-Frenk S, et al. Prenatal diagnosis by amniocentesis. Clinical and cytogenetic experience in 1,500 cases. Ginecol Obstet Mex. 2010;78(9):493–503.

4. Wilson RD, Blight C, Langlois S. Diagnosing chromosomal abnormalities from “big” to “small” with molecular cytogenetic technology. J Obstet Gynaecol Can. 2009;31(5):414–21.

5. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet. 2004;12(11):907–15.

Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3