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 …

[PDF][PDF] The accuracy of cell-free DNA screening for fetal segmental copy number variants: A systematic review and meta-analysis

YC Raymond, ML Acreman, S Bussolaro… - … journal of obstetrics …, 2023 - aura.abdn.ac.uk
Background: The performance of cell-free DNA (cfDNA) screening for microscopic copy
number variants (CNVs) is unclear. Objectives: This was a systematic review and meta …

[HTML][HTML] 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 …

Influence of fibroids on cell‐free DNA screening accuracy

F Scott, M Menezes, ME Smet, K Carey… - … in Obstetrics & …, 2022 - Wiley Online Library
ABSTRACT Objective Cell‐free DNA (cfDNA) screening assesses both maternal and
placental cfDNA. Fibroids are common and release cfDNA into maternal serum. Genetic …

[HTML][HTML] The value of combined detailed first-trimester ultrasound–biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing

C Ye, H Duan, M Liu, J Liu, J Xiang, Y Yin… - Archives of Gynecology …, 2023 - Springer
Purpose This study aimed to investigate the performance, cost-effectiveness and additional
findings of combined detailed ultrasound and biochemical screening for risks of major fetal …

[HTML][HTML] Patient attitudes and preferences about expanded noninvasive prenatal testing

ML Dubois, PD Winters, MA Rodrigue, J Gekas - Frontiers in Genetics, 2023 - frontiersin.org
Introduction: Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is typically
carried out to screen for common fetal chromosomal anomalies, with the option to screen for …

[HTML][HTML] Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes

T Mossfield, E Soster, M Menezes, G Agenbag… - Frontiers in …, 2022 - frontiersin.org
Cell-free (cf) DNA screening is a noninvasive prenatal screening approach that is typically
used to screen for common fetal trisomies, with optional screening for sex 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 …

[HTML][HTML] Noninvasive prenatal screening for trisomy 21 in patients with a vanishing twin

P Kleinfinger, A Luscan, L Descourvieres, D Buzas… - Genes, 2022 - mdpi.com
A vanishing twin (VT) occurs in up to 30% of early diagnosed twin pregnancies and is
associated with an increased risk of fetal aneuploidy. Here, we describe our experience in a …

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 …