Determination of foetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United …

M Hill, C Compton, C Lewis, H Skirton, LS Chitty - Haemophilia, 2012 - Wiley Online Library
In pregnancies at risk of haemophilia, foetal sex determination is used to plan perinatal
management and to guide the offer of invasive testing in pregnancies with a male foetus …

Non‐invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction

J Hooks, AJ Wolfberg, ET Wang, CA Struble… - Prenatal …, 2014 - Wiley Online Library
Objective To assess the performance of a directed chromosomal analysis approach in the
prenatal evaluation of fetal sex chromosome aneuploidy. Methods We analyzed 432 frozen …

Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of …

WA Neufeld-Kaiser, EY Cheng, YJ Liu - BMC medicine, 2015 - Springer
Background Non-invasive prenatal screening (NIPS) for fetal chromosome abnormalities
using cell-free deoxyribonucleic acid (cfDNA) in maternal serum has significantly influenced …

Non-invasive prenatal diagnosis using cell-free fetal nucleic acids in maternal plasma: Progress overview beyond predictive and personalized diagnosis

G Tounta, A Kolialexi, N Papantoniou, GT Tsangaris… - EPMA Journal, 2011 - Springer
The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma allowed for the
development of alternative methodologies that may facilitate safe non-invasive prenatal …

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): accuracy and patient decision‐making

A Ramdaney, J Hoskovec, J Harkenrider… - Prenatal …, 2018 - Wiley Online Library
Objective The objectives of the study are to assess the accuracy of noninvasive prenatal
testing (NIPT) for sex chromosome aneuploidies (SCAs) and to investigate patient decision …

Non-invasive screening and rapid QF-PCR assay can greatly reduce the need for conventional cytogenetic analyses in prenatal diagnosis

V Cirigliano, G Voglino, M Adinolfi - Reproductive biomedicine online, 2005 - Elsevier
In 2004, the UK National Screening Committee suggested that rapid screening tests, such
as fluorescence in-situ hybridization (FISH) and/or quantitative fluorescence PCR (QF-PCR) …

The value of the first trimester ultrasound in the era of cell free DNA screening

RR Rao, SG Valderramos, NS Silverman… - Prenatal …, 2016 - Wiley Online Library
Objective To describe the clinically relevant findings detected by the first trimester ultrasound
(FTU) and to determine the additional value of the FTU compared to cell free DNA (cfDNA) …

Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis

MM Gil, R Akolekar, MS Quezada, B Bregant… - Fetal diagnosis and …, 2014 - karger.com
Objective: To review clinical validation or implementation studies of maternal blood cell-free
(cf) DNA analysis in screening for aneuploidies and to explore the potential use of this …

New trend in non-invasive prenatal diagnosis

M Ferrari, P Carrera, V Lampasona, S Galbiati - Clinica chimica acta, 2015 - Elsevier
The presence of fetal DNA in maternal plasma represents a source of genetic material which
can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis …

Maternal liver transplant: Another cause of discordant fetal sex determination using cell‐free DNA

M Neofytou, N Brison, K Van den Bogaert… - Prenatal …, 2018 - Wiley Online Library
Noninvasive prenatal testing (NIPT) can very accurately determine fetal sex during
pregnancy. We present an exceptional case where NIPT contradicts the ultrasound‐based …