@Article{biocell.2021.015301,
AUTHOR = {JIANBO LU, XIAOHAN SUN, XU MA},
TITLE = {Two approaches for calculating female fetal DNA fraction in noninvasive prenatal testing based on size analysis of maternal DNA fragments},
JOURNAL = {BIOCELL},
VOLUME = {46},
YEAR = {2022},
NUMBER = {1},
PAGES = {185--193},
URL = {http://www.techscience.com/biocell/v46n1/44766},
ISSN = {1667-5746},
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 (<i>P</i> < 0.0001) and the aneuploid-based
approach reached 0.9339 (<i>P</i> < 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.},
DOI = {10.32604/biocell.2021.015301}
}