Maternal and fetal factors influencing fetal fraction: A retrospective analysis of 153,306 pregnant women undergoing noninvasive prenatal screening

Cechuan Deng; Cechuan Deng; Jianlong Liu; Jianlong Liu; Sha Liu; Sha Liu; Hongqian Liu; Hongqian Liu; Ting Bai; Ting Bai; Xiaosha Jing; Xiaosha Jing; Tianyu Xia; Tianyu Xia; Yunyun Liu; Yunyun Liu; Jing Cheng; Jing Cheng; Xiang Wei; Xiang Wei; Lingling Xing; Lingling Xing; Yuan Luo; Yuan Luo; Quanfang Zhou; Quanfang Zhou; Qian Zhu; Qian Zhu; Shanling Liu; Shanling Liu

doi:10.3389/fped.2023.1066178

Frontiers in Pediatrics (Apr 2023)

Maternal and fetal factors influencing fetal fraction: A retrospective analysis of 153,306 pregnant women undergoing noninvasive prenatal screening

Cechuan Deng,
Cechuan Deng,
Jianlong Liu,
Jianlong Liu,
Sha Liu,
Sha Liu,
Hongqian Liu,
Hongqian Liu,
Ting Bai,
Ting Bai,
Xiaosha Jing,
Xiaosha Jing,
Tianyu Xia,
Tianyu Xia,
Yunyun Liu,
Yunyun Liu,
Jing Cheng,
Jing Cheng,
Xiang Wei,
Xiang Wei,
Lingling Xing,
Lingling Xing,
Yuan Luo,
Yuan Luo,
Quanfang Zhou,
Quanfang Zhou,
Qian Zhu,
Qian Zhu,
Shanling Liu,
Shanling Liu

Affiliations

Cechuan Deng: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Jianlong Liu: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Sha Liu: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Hongqian Liu: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Ting Bai: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Xiaosha Jing: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Tianyu Xia: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Yunyun Liu: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Jing Cheng: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Xiang Wei: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Lingling Xing: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Yuan Luo: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Quanfang Zhou: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Qian Zhu: Prenatal Diagnostic Center, Department of Medical Genetics, 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
Shanling Liu: Prenatal Diagnostic Center, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China
Shanling Liu: Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China

DOI: https://doi.org/10.3389/fped.2023.1066178
Journal volume & issue: Vol. 11

Abstract

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BackgroundGenetic factors are important causes of birth defects. Noninvasive prenatal screening (NIPS) is widely used for prenatal screening of trisomy 21, trisomy 18, and trisomy 13, which are the three most common fetal aneuploidies. Fetal fraction refers to the proportion of cell-free fetal DNA in maternal plasma, which can influence the accuracy of NIPS. Elucidating the factors that influence fetal fraction can provide guidance for the interpretation of NIPS results and genetic counseling. However, there is currently no broad consensus on the known factors that influence fetal fraction.ObjectiveThe study aimed to explore the maternal and fetal factors influencing fetal fraction.MethodsA total of 153,306 singleton pregnant women who underwent NIPS were included. Data on gestational age; maternal age; body mass index (BMI); z-scores for chromosomes 21, 18, and 13; and fetal fraction in NIPS were collected from the study population, and the relationships between fetal fraction and these factors were examined. The relationship between fetal fraction and different fetal trisomy types was also analyzed.ResultsThe results showed that the median gestational age, maternal age, and BMI of the pregnant women were 18 (16, 20) weeks, 29 (25, 32) years, and 22.19 (20.40, 24.24) kg/m2, respectively. The median fetal fraction was 11.62 (8.96, 14.7)%. Fetal fraction increased with gestational age and decreased with maternal age and BMI (P < 0.001). Fetal fraction of fetuses with trisomies 21, 18, and 13 was similar to that of the NIPS-negative group. The z-scores of pregnant women with trisomy 21 and 18 fetuses were positively correlated with fetal fraction, but not with that of the trisomy 13 cases.ConclusionsThe factors that influence fetal fraction need to be taken into consideration before NIPS for quality control and after NIPS for result interpretation.

Published in Frontiers in Pediatrics

ISSN: 2296-2360 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: http://journal.frontiersin.org/journal/pediatrics

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