[PDF][PDF] Non-invasive prenatal testing for rare chromosomal anomalies

C Coroleucă, CA Ionescu, L Pleș, M Dimitriu… - methods, 2016 - gineco.eu
… ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013,
… subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA. Proc …

Clinical application of noninvasive prenatal testing for pregnant women with assisted reproductive pregnancy

XX Jin, YF Xu, X Ying, YQ Qian, PZ Jin… - International Journal of …, 2021 - Taylor & Francis
… then used for machine sequencing on a semiconductor sequencing platform. Samples with
… In conclusion, NIPT has a high screening efficiency for fetal aneuploidy in IVF pregnancy. …

Progress and challenges in laboratory-based diagnostic and screening approaches for aneuploidy detection during pregnancy

L Schneider, A Tripathi - SLAS TECHNOLOGY: Translating …, 2021 - journals.sagepub.com
aneuploidy diagnosis during preimplantation genetic testing that is performed during in vitro
fertilization as well as prenatal screening and diagnosis … PGT-A and NIPT prenatal testing, …

Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications

MC Neofytou, K Tsangaras, E Kypri, C Loizides… - PLoS …, 2017 - journals.plos.org
Non-invasive prenatal testing has focused mainly on whole chromosome aneuploidies and
has advanced rapidly in clinical practice. Recent microarray studies showed that clinically …

Noninvasive cell‐free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy

…, APHP noninvasive prenatal screening … - … in Obstetrics & …, 2024 - Wiley Online Library
… Performance of semiconductor sequencing platform for non-invasive … findings from non-invasive
prenatal testing for common fetal aneuploidies by whole genome sequencing as a …

Calculation of fetal fraction for non-invasive prenatal testing

M Cserhati - BioTech, 2021 - mdpi.com
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome
aneuploidies from … Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A …

Focus on the frontier issue: progress in noninvasive prenatal screening for fetal trisomy from clinical perspectives

M Tian, L Feng, J Li, R Zhang - Critical Reviews in Clinical …, 2023 - Taylor & Francis
… In 2020, the American College of Obstetricians and Gynecologists (ACOG) stated that cfDNA
is the most sensitive and specific screening test for detecting common fetal aneuploidies […

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Y Qi, J Yang, Y Hou, F Guo, H Peng, D Wang, Q Du… - Human Genomics, 2019 - Springer
… in 2011, noninvasive prenatal testing (NIPT) by massively parallel sequencing of cell-free
DNA (cfDNA) has profoundly transformed prenatal screening for prenatal aneuploidy. In the …

Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21

J Yang, J Wu, D Wang, Y Hou, F Guo, Q Zhang… - Journal of Assisted …, 2023 - Springer
… method for the diagnosis of common fetal aneuploidy, it remains a … In this study,
semiconductor sequencing platform with average read length of over 100 bp was used to …

Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing

T Wang, C Duan, C Shen, J Xiang, Q He, J Ding… - Molecular …, 2016 - Springer
… the Ion proton platform based on semiconductor sequencing and its optimized … Noninvasive
prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies