[HTML][HTML] Prenatal diagnosis of a 46, XX male following noninvasive prenatal testing

N Mansfield, T Boogert, A McLennan - Clinical Case Reports, 2015 - ncbi.nlm.nih.gov
Materials and Methods High-molecular weight DNA was extracted from 15 mL of amniotic
fluid, using the Promega Wizard Genomic DNA Purification Kit (Madison, WI, USA). A …

A case report of a feto-placental mosaicism involving a segmental aneuploidy: a challenge for genome wide screening by non-invasive prenatal testing of cell-free …

L De Falco, G Vitiello, G Savarese, T Suero… - Genes, 2023 - mdpi.com
Non-invasive prenatal testing (NIPT) using cell-free DNA can detect fetal chromosomal
anomalies with high clinical sensitivity and specificity. In approximately 0.1% of clinical …

Detection of SRY‐positive46, XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

L De Falco, G Savarese, T Suero… - Clinical Case …, 2019 - Wiley Online Library
We report a new case of 46, XX male syndrome that was detected following an anomalous
result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal …

Secondary findings from non‐invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

TK Lau, FM Jiang, RJ Stevenson, TK Lo… - Prenatal …, 2013 - Wiley Online Library
Objective To report secondary or additional findings arising from introduction of non‐
invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical …

Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

T Futch, J Spinosa, S Bhatt, E de Feo… - Prenatal …, 2013 - Wiley Online Library
Objective The aim of this study is to report the experience of noninvasive prenatal DNA
testing using massively parallel sequencing in an accredited clinical laboratory. Methods …

Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion

E Kalafat, MM Seval, B Turgay, A Koç - Case Reports, 2015 - casereports.bmj.com
Cell-free fetal DNA has received significant attention for the purposes of prenatal genetic
testing in the past decade. Fetal DNA testing is a new method and promising for many …

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic …

FR Grati, JCPB Ferreira, K Bajaj - American Journal of Obstetrics & …, 2014 - ajog.org
DECEMBER 2014 American Journal of Obstetrics & Gynecology 711 ajog. org Letters to the
Editors authors comment that discordant or discrepant results may be explained by human …

Reliable detection of subchromosomal deletions and duplications using cell‐based noninvasive prenatal testing

L Vossaert, Q Wang, R Salman, X Zhuo… - Prenatal …, 2018 - Wiley Online Library
Objective To gather additional data on the ability to detect subchromosomal abnormalities of
various sizes in single fetal cells isolated from maternal blood, using low‐coverage shotgun …

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
Background To detect complex fetal subchromosomal abnormalities by noninvasive
prenatal testing (NIPT). Case presentation After routine prenatal serum screening, the …

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

BG Skotko, MA Allyse, K Bajaj, RG Best… - Genetics in …, 2019 - nature.com
Purpose Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has
been commercially available in the United States since 2011. In 2016, the American College …