Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis

MM Gil, MS Quezada, R Revello… - … in obstetrics & …, 2015 - Wiley Online Library
Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

The accuracy of cell‐free fetal DNA‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis

FL Mackie, K Hemming, S Allen… - … Journal of Obstetrics …, 2017 - Wiley Online Library
Background Cell‐free fetal DNA (cff DNA) non‐invasive prenatal testing (NIPT) is rapidly
expanding, and is being introduced at varying rates depending on country and condition …

[HTML][HTML] Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

AR Gregg, BG Skotko, JL Benkendorf, KG Monaghan… - Genetics in …, 2016 - Elsevier
Disclaimer: This statement is designed primarily as an educational resource for clinicians to
help them provide quality medical services. Adherence to this statement is completely …

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

Y Alyafee, A Al Tuwaijri, M Umair, M Alharbi… - Frontiers in …, 2022 - frontiersin.org
Background: In pregnant women at risk of autosomal recessive (AR) disorders, prenatal
diagnosis of AR disorders primarily involves invasive procedures, such as chorionic villus …

Genomics‐based non‐invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

M Badeau, C Lindsay, J Blais… - Cochrane Database …, 2017 - cochranelibrary.com
Background Common fetal aneuploidies include Down syndrome (trisomy 21 or T21),
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

H Hu, L Wang, J Wu, P Zhou, J Fu, J Sun, W Cai, H Liu… - Human genomics, 2019 - Springer
Background Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free
fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in …

The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform

YJ Jeon, Y Zhou, Y Li, Q Guo, J Chen, S Quan… - PloS one, 2014 - journals.plos.org
Objective Recent non-invasive prenatal testing (NIPT) technologies are based on next-
generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be …

Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA

A Yin, C Peng, X Zhao, BA Caughey… - Proceedings of the …, 2015 - National Acad Sciences
Noninvasive prenatal testing (NIPT) using sequencing of fetal cell-free DNA from maternal
plasma has enabled accurate prenatal diagnosis of aneuploidy and become increasingly …

Systematic analysis of copy‐number variations associated with early pregnancy loss

Y Wang, Y Li, Y Chen, R Zhou, Z Sang… - … in Obstetrics & …, 2020 - Wiley Online Library
Objectives Embryonic numerical and structural chromosomal abnormalities are the most
common cause of early pregnancy loss. However, the role of submicroscopic copy‐number …

Next generation sequencing based non-invasive prenatal testing (NIPT): First report from Saudi Arabia

Y Alyafee, A Al Tuwaijri, Q Alam, M Umair… - Frontiers in …, 2021 - frontiersin.org
Background: Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women
screening has been recently established in Saudi Arabia. We aim from this study to report …