Problems with clinical application of non-invasive prenatal testing / 中华医学遗传学杂志

ABSTRACT

With the development of high-throughput sequencing technology, non-invasive prenatal testing (NIPT) has been rapidly used for fetal chromosomal aneuploidy screening and gradually become a first-line test. With the increase of sequencing depth and improvement of bioinformatic analysis ability, NIPT technology may also be used to detect chromosomal copy number variations and certain single gene diseases in fetuses. However, it has also encountered some problems such as insufficient understanding by different groups, false-positive and false-negative results, and selection of appropriate subjects and gestational age. This article has given a summary for such problems.