[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 …
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 …
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 …
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 …
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 …
testing using massively parallel sequencing in an accredited clinical laboratory. Methods …
Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion
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 …
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 …
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 …
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
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 …
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 …
prenatal testing (NIPT). Case presentation After routine prenatal serum screening, the …
Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations
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 …
been commercially available in the United States since 2011. In 2016, the American College …