Impact of maternal X chromosome aneuploidies on cell free DNA prenatal screening
10.3760/cma.j.issn.0529-567X.2020.02.008
- VernacularTitle: 孕妇X染色体异常对其外周血游离DNA产前筛查的影响
- Author:
Jiazhen CHANG
1
;
Qingwei QI
2
;
Xiya ZHOU
2
;
Yulin JIANG
2
;
Na HAO
2
;
Jing ZHOU
2
;
Mengmeng LI
2
;
Xiaotong TIAN
2
;
Juntao LIU
2
Author Information
1. Department of Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
2. Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China
- Publication Type:Journal Article
- Keywords:
Sex chromosome aerrations;
Cell-free nucleic acids;
Prenatal diagnosis;
Pregnant women
- From:
Chinese Journal of Obstetrics and Gynecology
2020;55(2):100-105
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening.
Methods:After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations.
Results:Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases.
Conclusions:Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.
