Non‐invasive prenatal testing for aneuploidy: current status and future prospects
P Benn, H Cuckle, E Pergament - Ultrasound in Obstetrics & …, 2013 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) for aneuploidy using cell‐free DNA in maternal plasma
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
FR Grati, D Molina Gomes, JCPB Ferreira… - Prenatal …, 2015 - Wiley Online Library
Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal
testing for all patients has not achieved a consensus. Technical alternatives such as …
testing for all patients has not achieved a consensus. Technical alternatives such as …
QF‐PCR: application, overview and review of the literature
K Mann, CM Ogilvie - Prenatal diagnosis, 2012 - Wiley Online Library
Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for
over 10 years and has proved to be a cost‐effective, robust and accurate rapid prenatal test …
over 10 years and has proved to be a cost‐effective, robust and accurate rapid prenatal test …
Chromosomally normal miscarriage is associated with vaginal dysbiosis and local inflammation
K Grewal, YS Lee, A Smith, JJ Brosens, T Bourne… - BMC medicine, 2022 - Springer
Background Emerging evidence supports an association between vaginal microbiota
composition and risk of miscarriage; however, the underlying mechanisms are poorly …
composition and risk of miscarriage; however, the underlying mechanisms are poorly …
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH
C Poirsier, J Besseau-Ayasse… - European Journal of …, 2016 - nature.com
Abstract Although 22q11. 2 deletion syndrome (22q11. 2DS) is the most recurrent human
microdeletion syndrome associated with a highly variable phenotype, little is known about …
microdeletion syndrome associated with a highly variable phenotype, little is known about …
Prenatal BACs‐on‐BeadsTM: the prospective experience of five prenatal diagnosis laboratories
F Vialard, G Simoni, DM Gomes, A Abourra… - Prenatal …, 2012 - Wiley Online Library
Objective We previously reported on the validation of Prenatal BACs‐on‐BeadsTM on
retrospectively selected and prospective prenatal samples. This bead‐based multiplex …
retrospectively selected and prospective prenatal samples. This bead‐based multiplex …
[HTML][HTML] High-throughput karyotyping of human pluripotent stem cells
Genomic integrity of human pluripotent stem cell (hPSC) lines requires routine monitoring.
We report here that novel karyotyping assay, utilizing bead-bound bacterial artificial …
We report here that novel karyotyping assay, utilizing bead-bound bacterial artificial …
Diagnostic accuracy of the BACs‐on‐Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series
Objective To evaluate the diagnostic performance of the BAC s‐on‐Beads™(BoBs™) assay
for prenatal detection of chromosomal abnormalities. Design Retrospective study. Setting …
for prenatal detection of chromosomal abnormalities. Design Retrospective study. Setting …
Referral patterns for microarray testing in prenatal diagnosis
LG Shaffer, MP Dabell, JA Rosenfeld… - Prenatal …, 2012 - Wiley Online Library
Objective To understand the prenatal referral patterns from the United States, Canada, and
Israel for two whole‐genome microarray platforms, each with a different resolution. Method …
Israel for two whole‐genome microarray platforms, each with a different resolution. Method …
Quantitative fluorescence PCR analysis of> 40 000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X
K Mann, A Hills, C Donaghue, H Thomas… - Prenatal …, 2012 - Wiley Online Library
Objective To present the results of 10 years of quantitative fluorescence PCR (QF‐PCR)
analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This …
analysis of prenatal samples for the rapid diagnosis of the common aneuploidies. This …