Open Access

ARTICLE

Two approaches for calculating female fetal DNA fraction in noninvasive prenatal testing based on size analysis of maternal DNA fragments

by JIANBO LU^1,2,#,*, XIAOHAN SUN^3,#, XU MA^1,2,*

1 Human Genetics Resource Center, National Research Institute for Family Planning, Beijing, 100081, China
2 Graduate School, Peking Union Medical College, Beijing, 100730, China
3 Beijing University of Technology, Beijing, 100124, China
# These authors contributed equally to this work

* Corresponding Authors:JIANBO LU. Email: ; XU MA. Email:

BIOCELL 2022, 46(1), 185-193. https://doi.org/10.32604/biocell.2021.015301

Received 07 December 2020; Accepted 03 February 2021; Issue published 29 September 2021

Abstract

The concentration of cell-free fetal DNA fragments should be detected before noninvasive prenatal testing (NIPT). The fetal DNA molecules have significant clinical potential in determining the overall performance of NIPT and clinical interpretation. It is important to measure fetal DNA fraction before NIPT. However, there is still little research on how to calculate the concentration of female fetuses. Two estimation approaches were proposed to calculate fetal DNA fraction, including the fragments size-based approach, aneuploid-based approach, which are all approaches based on chromosome segments. Based on high-throughput sequencing data, two approaches to calculate the DNA fraction of male fetuses were tested and obtained the experiment values, which were close to the actual values. The correlation coefficient of fragments size-based approach was 0.9243 (P < 0.0001) and the aneuploid-based approach reached 0.9339 (P < 0.0001). We calculated the concentration of female fetuses and obtained remarkable experimental results. We came up with two approaches for calculating the fetal DNA fraction of female fetuses. It provides an important theoretical basis for the detection of female fetal concentration in future clinical diagnosis.

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