Non-invasive prenatal testing for aneuploidy screening

Abstract

This is a repository copy of Non-invasive prenatal testing for aneuploidy screening.

Peripheral Blood Microbiome Analysis via Noninvasive Prenatal Testing Reveals the Complexity of Circulating Microbial Cell-Free DNA

“…Microbes occupy habitats like the gut, skin, vagina, and other organs of the human body, and these microbiota are thought to be essential for maintaining human health ( 1 – 3 ). In recent years, bacterial and viral nucleic acid fragments have been identified from the circulation of asymptomatic subjects ( 4 – 7 ), which has enabled sequencing of circulating cell-free DNA (cfDNA) from liquid biopsy specimens for noninvasive diagnosis of infectious diseases and improved our understanding of the possible functions of the resident microbiota ( 8 ).…”

Knowledge and attitude of pregnant women in the Kingdom of Saudi Arabia toward Noninvasive prenatal testing: A single center study

“…According to the recommendations set by the Prenatal Screening Committee at the International Society for Prenatal Diagnosis (ISPD), all pregnant women should use NIPT as a primary prenatal screening tool (Benn et al, 2015 ). The advantages of NIPT compared with invasive prenatal screening include ease of sample collection and lack of risk of miscarriage as it only requires small amount of maternal blood (Spencer et al, 2020 ). The increased sensitivity of next generation sequencing technologies facilitated the use of NIPT for screening as early as 10 weeks of pregnancy compared to 13 and 15 weeks for Chorionic villus sampling (CVS) and Amniocentesis (Spencer et al, 2020 ).…”

“…The advantages of NIPT compared with invasive prenatal screening include ease of sample collection and lack of risk of miscarriage as it only requires small amount of maternal blood (Spencer et al, 2020 ). The increased sensitivity of next generation sequencing technologies facilitated the use of NIPT for screening as early as 10 weeks of pregnancy compared to 13 and 15 weeks for Chorionic villus sampling (CVS) and Amniocentesis (Spencer et al, 2020 ). NIPT was found to be optimal for screening of aneuploidies such as Trisomy 21, 18, and 13 (Spencer et al, 2020 ).…”

“…The increased sensitivity of next generation sequencing technologies facilitated the use of NIPT for screening as early as 10 weeks of pregnancy compared to 13 and 15 weeks for Chorionic villus sampling (CVS) and Amniocentesis (Spencer et al, 2020 ). NIPT was found to be optimal for screening of aneuploidies such as Trisomy 21, 18, and 13 (Spencer et al, 2020 ). However, the accuracy of screening for aneuploidies of sex‐chromosomes was not acceptable (Deng et al, 2019 ; Kornman et al, 2018 ; Lu et al, 2021 ).…”

“…For example, termination of pregnancy was favored in case of trisomy 13 and 18 (Alsulaiman & Hewison, 2007 ). NIPT provide an advantage for the community as it can provide answers from the 10th week of pregnancy allowing families to decide regarding the termination of the pregnancy prior to ensoulment (Spencer et al, 2020 ). Due to the lack of knowledge and awareness of pregnant women regarding prenatal screening in Saudi Arabia, we aimed to assess the knowledge and attitude of pregnant women with a particular focus on NIPT.…”