Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy

M Johnston, C Warton, MD Pertile… - Prenatal …, 2023 - Wiley Online Library
Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available
through expanded non‐invasive prenatal testing (NIPT). NIPT for SCAs raises complex …

The accuracy of prenatal cell-free DNA screening for sex chromosome abnormalities: A systematic review and meta-analysis

S Bussolaro, YC Raymond, ML Acreman… - American journal of …, 2023 - Elsevier
OBJECTIVE Although cell-free DNA screening for sex chromosome abnormalities is
increasingly used in clinical practice, its diagnostic accuracy and clinical utility remain …

A critical evaluation of validation and clinical experience studies in non-invasive prenatal testing for trisomies 21, 18, and 13 and monosomy X

Z Demko, B Prigmore, P Benn - Journal of Clinical Medicine, 2022 - mdpi.com
Non-invasive prenatal testing (NIPT) for trisomies 21, 18, 13 and monosomy X is widely
utilized with massively parallel shotgun sequencing (MPSS), digital analysis of selected …

Comparison of chromosomal microarray analysis and noninvasive prenatal testing in pregnant women with fetal ultrasonic soft markers

X Hu, Y Hu, H Wang, C Yu, J Zheng… - … and Healthcare Policy, 2024 - Taylor & Francis
Objective This study aimed to assess the utility of chromosomal microarray analysis (CMA)
and noninvasive prenatal testing (NIPT) in detecting clinically significant chromosomal …

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
The discovery of cell-free fetal DNA (cffDNA) in maternal blood and the rapid development of
massively parallel sequencing have revolutionized prenatal testing from invasive to …

Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free …

KL Scarff, N Flowers, CJ Love, AD Archibald… - Prenatal …, 2023 - Wiley Online Library
Objectives To evaluate the performance of cell‐free DNA (cfDNA) screening for common
fetal aneuploidies, choice of prenatal procedure, and chromosome conditions identified …

Lipid metabolism affects fetal fraction and screen failures in non-invasive prenatal testing

J Cao, L Qiao, J Jin, S Zhang, P Chen, H Tang… - Frontiers in …, 2022 - frontiersin.org
Objective: To assess the association between lipid metabolism and fetal fraction, which is a
critical factor in ensuring a highly accurate non-invasive prenatal testing (NIPT), and on the …

Non-invasive prenatal test findings in 41,819 pregnant women: results from a clinical laboratory in southern China

S Liu, Q Chang, F Yang, Y Xu, B Jia, R Wu, L Li… - Archives of Gynecology …, 2023 - Springer
Background This paper evaluated the clinical utility of massively parallel sequencing-based
non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21), T18, T13, sex …

Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants

I Bedei, T Gehrke, KP Gloning… - Prenatal …, 2023 - Wiley Online Library
Objective We aimed to investigate how the presence of fetal anomalies and different X
chromosome variants influences Cell‐free DNA (cfDNA) screening results for monosomy X …

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman with Mosaicism for Turner Syndrome—Applications and Advantages of Cell …

LD Jeppesen, L Hatt, R Singh, P Schelde… - Frontiers in …, 2021 - frontiersin.org
Background: Cell-free NIPT and cell-based NIPT are risk-free testing options using maternal
blood samples to screen for fetal aneuploidies, but the methods differ. For cell-free NIPT, the …