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

MM Gil, V Accurti, B Santacruz… - … in Obstetrics & …, 2017 - Wiley Online Library
Objectives To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis

MM Gil, MS Quezada, R Revello… - … in obstetrics & …, 2015 - Wiley Online Library
Objective To review clinical validation or implementation studies of maternal blood cell‐free
(cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 …

[HTML][HTML] Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

AR Gregg, BG Skotko, JL Benkendorf, KG Monaghan… - Genetics in …, 2016 - Elsevier
Disclaimer: This statement is designed primarily as an educational resource for clinicians to
help them provide quality medical services. Adherence to this statement is completely …

Cell-free DNA analysis for noninvasive examination of trisomy

ME Norton, B Jacobsson, GK Swamy… - … England Journal of …, 2015 - Mass Medical Soc
Background Cell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-
risk women. However, there have been few direct, well-powered studies comparing cfDNA …

[HTML][HTML] Next generation sequencing technology: advances and applications

HPJ Buermans, JT Den Dunnen - … Acta (BBA)-Molecular Basis of Disease, 2014 - Elsevier
Impressive progress has been made in the field of Next Generation Sequencing (NGS).
Through advancements in the fields of molecular biology and technical engineering …

Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

S Taylor-Phillips, K Freeman, J Geppert, A Agbebiyi… - BMJ open, 2016 - bmjopen.bmj.com
Objective To measure test accuracy of non-invasive prenatal testing (NIPT) for Down,
Edwards and Patau syndromes using cell-free fetal DNA and identify factors affecting …

[HTML][HTML] DNA sequencing versus standard prenatal aneuploidy screening

DW Bianchi, RL Parker, J Wentworth… - New England journal …, 2014 - Mass Medical Soc
Background In high-risk pregnant women, noninvasive prenatal testing with the use of
massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately …

New insights into mechanisms behind miscarriage

EC Larsen, OB Christiansen, AM Kolte, N Macklon - BMC medicine, 2013 - Springer
Sporadic miscarriage is the most common complication of early pregnancy. Two or three
consecutive pregnancy losses is a less common phenomenon, and this is considered a …

Non-invasive prenatal testing: a review of international implementation and challenges

M Allyse, MA Minear, E Berson, S Sridhar… - … journal of women's …, 2015 - Taylor & Francis
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal
chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant …

Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

H Zhang, Y Gao, F Jiang, M Fu, Y Yuan… - … in Obstetrics & …, 2015 - Wiley Online Library
Objectives To report the clinical performance of massively parallel sequencing‐based non‐
invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical …