Noninvasive prenatal screening for fetal sex chromosome aneuploidies

Introduction Sex chromosome aneuploidies (SCAs) are among the most common chromosome abnormalities observed in humans. Manifestations include low fertility, infertility, delayed language development, and dysfunction in motor development. Noninvasive prenatal screening (NIPS) based on cell-free fetal DNA from the peripheral blood of pregnant women is increasingly used for the screening of fetal chromosome abnormalities, including screening for fetal gender and fetal sex chromosome aneuploidy. A systematic review of the literature about NIPS for SCAs is needed. Areas covered This review evaluated a vast array of published studies focusing on the clinical significance, detection methods, performance of NIPS for SCAs, and the management of positive SCA results following screening with the aim of facilitating a comprehensive and systematic understanding of NIPS for SCAs. Expert commentary Looking forward, NIPS is expected to become the primary screening test for common aneuploidies as well as other chromosome abnormalities, including some micro-deletions and micro-duplications, with the potential to transition from a screening test to a prenatal diagnosis method. Ultimately, the goal is to provide a safe and accurate method for increasing early diagnosis to improve long-term outcomes for the SCA patients and families by well- informed health care providers.

Automated summary

Sex chromosome aneuploidies (SCAs) are common chromosome abnormalities in humans, with manifestations including low fertility and delayed development. Noninvasive prenatal screening (NIPS) based on cell-free fetal DNA is increasingly used for screening. This review evaluated published studies on NIPS for SCAs to facilitate a comprehensive understanding and highlighted the potential of NIPS as a primary screening test for various chromosomal abnormalities.