Analysis of the clinical outcomes of fetal 6p22.1-p21.32 duplications signaled by non-invasive prenatal screening
10.3760/cma.j.cn511374-20240703-00368
- VernacularTitle:无创产前筛查提示胎儿6p22.1-p21.32重复的产前诊断及临床结局分析
- Author:
Peng DAI
1
;
Ganye ZHAO
1
;
Yaqin HOU
1
;
Shuang HU
1
;
Xiangdong KONG
1
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
- Publication Type:Journal Article
- Keywords:
Noninvasive prenatal screening;
6p22.1-p21.32;
Prenatal diagnosis;
Pregnancy outcome
- From:
Chinese Journal of Medical Genetics
2024;41(12):1411-1415
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the results of prenatal diagnosis and outcome of pregnancy of fetuses with a high risk for 6p22.1-p21.32 duplication signaled by non-invasive prenatal screening (NIPS).Methods:Clinical information, results of prenatal diagnosis and pregnancy for fetuses with a high risk for 6p22.1-p21.32 duplication were collected and analyzed. This study has been approved by the medical Ethics Committee of the First Affiliated Hospital of Zhengzhou University (Ethic No.2018-YB-08).Results:Forty three pregnant women with a high risk for 6p22.1-p21.32 duplication were identified by NIPS, among whom 30 had accepted invasive prenatal diagnosis, and 27 fetuses were verified to be false positive. Three fetuses were found to have other chromosomal abnormalities, among whom two were rated to be likely benign CNV and 1 was rated to be likely pathogenic. Follow up of the 43 pregnant women revealed that 35 fetuses were normal after birth, 1 pregnancy was terminated, and 7 were lost to follow up.Conclusion:For pregnant women with a high risk for 6p22.1-p21.32 duplication signaled by NIPS, genetic counselor need to inform them the high false positive rate and recommend invasive prenatal diagnosis and/or ultrasound examination in order to reduce the psychological and economic burdens.
