Diagnostic accuracy of noninvasive detection of fetal trisomy 21 in maternal blood: a systematic review

EJ Verweij, JME Van Den Oever, MA De Boer… - Fetal diagnosis and …, 2012 - karger.com
Background: Both pregnant women and providers of obstetric care are aware of the rapid
advances in noninvasive prenatal diagnosis (NIPD) of fetal trisomies, and appear to look …

Analysis of cell‐free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population–a systematic …

E Iwarsson, B Jacobsson, J Dagerhamn… - Acta obstetricia et …, 2017 - Wiley Online Library
Introduction The aim of this study was to review the performance of non‐invasive prenatal
testing (NIPT) for detection of trisomy 21, 18 and 13 (T21, T18 and T13) in a general …

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

E Mersy, LJM Smits, LAAP van Winden… - Human reproduction …, 2013 - academic.oup.com
BACKGROUND Research on noninvasive prenatal testing (NIPT) of fetal trisomy 21 is
developing fast. Commercial tests have become available. To provide an up-to-date …

Clinical experience of noninvasive prenatal testing with cell‐free DNA for fetal trisomies 21, 18, and 13, in a general screening population

G Fairbrother, S Johnson, TJ Musci… - Prenatal diagnosis, 2013 - Wiley Online Library
Objective Evaluate noninvasive prenatal testing (NIPT) with cell‐free DNA as a screening
method for trisomies 21, 18, and 13 in an obstetrical clinical practice setting. Methods …

Non‐invasive prenatal testing for trisomy 21 based on analysis of cell‐free fetal DNA circulating in the maternal plasma

A Alberti, LJ Salomon, M Le Lorc'h… - Prenatal …, 2015 - Wiley Online Library
Objective By‐the‐book implementation of non‐invasive prenatal test and clinical validation
for trisomy 21. Study Design Publicly funded prospective study of 225 cases. Women at risk …

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

M Ehrich, C Deciu, T Zwiefelhofer, JA Tynan… - American journal of …, 2011 - Elsevier
OBJECTIVE: We sought to evaluate a multiplexed massively parallel shotgun sequencing
assay for noninvasive trisomy 21 detection using circulating cell-free fetal DNA. STUDY …

Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood

JH Lim, SY Park, HM Ryu - Obstetrics & gynecology science, 2013 - synapse.koreamed.org
Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it
has been identified as a promising source of fetal genetic material in the development of …

Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13

N Suzumori, A Sekizawa, E Takeda, O Samura… - European Journal of …, 2021 - Elsevier
Objective Maternal characteristics and neonatal outcomes associated with cell-free DNA
(cfDNA) results were analysed retrospectively to assess the details of false-positive and …

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

J Gekas, S Langlois, V Ravitsky, F Audibert… - The Application of …, 2014 - Taylor & Francis
Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies
on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which …

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Y Qi, J Yang, Y Hou, F Guo, H Peng, D Wang, Q Du… - Human Genomics, 2019 - Springer
Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT)
in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases …