Frontiers in Pediatrics (Aug 2023)
Maternal, neonatal, pregnancy outcome characteristics of pregnant women with high plasma cell-free DNA concentration in non-invasive prenatal screening: a retrospective analysis
- Lingling Xing,
- Lingling Xing,
- Lingling Xing,
- Ting Bai,
- Ting Bai,
- Ting Bai,
- Sha Liu,
- Sha Liu,
- Sha Liu,
- Jianlong Liu,
- Jianlong Liu,
- Jianlong Liu,
- Xiaosha Jing,
- Xiaosha Jing,
- Xiaosha Jing,
- Cechuan Deng,
- Cechuan Deng,
- Cechuan Deng,
- Tianyu Xia,
- Tianyu Xia,
- Tianyu Xia,
- Yunyun Liu,
- Yunyun Liu,
- Yunyun Liu,
- Jing Cheng,
- Jing Cheng,
- Jing Cheng,
- Xiang Wei,
- Xiang Wei,
- Xiang Wei,
- Yuan Luo,
- Yuan Luo,
- Yuan Luo,
- Quanfang Zhou,
- Quanfang Zhou,
- Quanfang Zhou,
- Qian Zhu,
- Qian Zhu,
- Qian Zhu,
- Hongqian Liu,
- Hongqian Liu,
- Hongqian Liu
Affiliations
- Lingling Xing
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Lingling Xing
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Lingling Xing
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Ting Bai
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Ting Bai
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Ting Bai
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Sha Liu
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Sha Liu
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Sha Liu
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Jianlong Liu
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Jianlong Liu
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Jianlong Liu
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Xiaosha Jing
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Xiaosha Jing
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Xiaosha Jing
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Cechuan Deng
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Cechuan Deng
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Cechuan Deng
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Tianyu Xia
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Tianyu Xia
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Tianyu Xia
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Yunyun Liu
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Yunyun Liu
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Yunyun Liu
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Jing Cheng
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Jing Cheng
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Jing Cheng
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Xiang Wei
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Xiang Wei
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Xiang Wei
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Yuan Luo
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Yuan Luo
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Yuan Luo
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Quanfang Zhou
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Quanfang Zhou
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Quanfang Zhou
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Qian Zhu
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Qian Zhu
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Qian Zhu
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- Hongqian Liu
- Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, Chengdu, China
- Hongqian Liu
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China
- Hongqian Liu
- Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
- DOI
- https://doi.org/10.3389/fped.2023.1195818
- Journal volume & issue
-
Vol. 11
Abstract
ObjectiveCell-free DNA (cfDNA) is a useful biomarker in various clinical contexts. Herein, we aimed to identify maternal characteristics and pregnancy outcomes associated with a failed NIPS test due to high cfDNA concentrations.MethodsA retrospective study of cases with high plasma cfDNA concentration in pregnant women in which NIPS test was performed (from 174,318 cases). We reported the detection of 126 cases (118 with complete clinical information) in which the high amount of cfDNA did not allow the performance of NIPS and study the possible causes of this result.Results622 (0.35%) of 174,318 pregnant women had failed the NIPS test, including 126 (20.3%) cases with high plasma cfDNA concentrations. The failed NIPS due to high plasma cfDNA concentrations was associated with maternal diseases and treatment with low-molecular-weight heparin (LMWH). Further follow-up of the 118 pregnant women in the case group revealed that the pregnancy outcomes included 31 premature deliveries, 21 abortions. The cfDNA concentrations of pregnant women with preterm deliveries were 1.15 (0.89, 1.84), which differed significantly from those who had full-term deliveries.ConclusionsAmong pregnant women with high cfDNA concentrations, systemic autoimmune diseases, pregnancy complications and LMWH were associated with increased incidence of failed NIPS test. High maternal cfDNA concentrations may not be associated with chromosomal abnormalities in the fetus. However, they should be alerted to the possibility of preterm births and stillbirths. Further clinical studies on pregnant women with high cfDNA concentrations are required.
Keywords
- non-invasive prenatal screening
- cell-free DNA
- systemic autoimmune disease
- antiphospholipid syndrome
- pregnancy complications
- pregnancy-induced hypertension
