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An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21.


ABSTRACT:

Background

Molecular size determination of circulating free fetal DNA in maternal plasma is an important detection method for noninvasive prenatal testing (NIPT). The fetal DNA molecule is the primary factor determining the overall performance of NIPT and its clinical interpretation. The proportion of cell-free fetal DNA molecules is expressed as the fetal DNA fraction in the plasma of pregnant women.

Methods

We proposed an effective method to deduce fetal chromosomal aneuploidy based on the proportion of a certain range of DNA fragment lengths from maternal plasma. We gradually narrowed the range of the upper and lower boundary via a traversing algorithm.

Results

We explored the optimal range of the upper and lower boundary by using size-based DNA fragment length. Us

SUBMITTER: Sun X 

PROVIDER: S-EPMC6461288 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature