Genomics‐based non‐invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

M Badeau, C Lindsay, J Blais… - Cochrane Database …, 2017 - cochranelibrary.com
Background Common fetal aneuploidies include Down syndrome (trisomy 21 or T21),
Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner …

The clinical utility of genome‐wide non invasive prenatal screening

F Fiorentino, S Bono, F Pizzuti, S Duca… - Prenatal …, 2017 - Wiley Online Library
Objective In this study, we expanded conventional cell‐free fetal DNA (cfDNA)‐based non‐
invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the …

Cell-free DNA screening for fetal aneuploidy as a clinical service

H Cuckle, P Benn, E Pergament - Clinical biochemistry, 2015 - Elsevier
Non-invasive prenatal testing (NIPT) through the analysis of cell free (cf) DNA is
revolutionizing prenatal screening for fetal aneuploidy. Current methods used in clinical …

Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities

LS Chitty, L Hudgins, ME Norton - Prenatal Diagnosis, 2018 - Wiley Online Library
Noninvasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) from maternal serum has
been clinically available since 2011. This technology has revolutionized our ability to screen …

[HTML][HTML] Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review

O Samura, A Okamoto - Taiwanese Journal of Obstetrics and Gynecology, 2020 - Elsevier
Non-invasive prenatal testing (NIPT) is performed worldwide to detect common
chromosomal aneuploidies. The analysis of cell-free DNA (cfDNA) in maternal blood for …

[HTML][HTML] Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies

M La Verde, L De Falco, A Torella, G Savarese… - BMC medical …, 2021 - Springer
Background This paper describes the clinical practice and performance of cell-free DNA
sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal …

Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

EMJ Boon, BHW Faas - Prenatal Diagnosis, 2013 - Wiley Online Library
The goal to noninvasively detect fetal aneuploidies using circulating cell‐free fetal DNA in
the maternal plasma seems to be achieved by the use of massively parallel sequencing …

[HTML][HTML] Non-invasive prenatal testing: current perspectives and future challenges

L Carbone, F Cariati, L Sarno, A Conforti, F Bagnulo… - Genes, 2020 - mdpi.com
Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality
and neurodevelopmental impairment. During the last 70 years, many efforts have been …

[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 …

Non invasive prenatal testing (NIPT) for common aneuploidies and beyond

MS Alberry, E Aziz, SR Ahmed… - European Journal of …, 2021 - Elsevier
Non invasive prenatal Testing (NIPT) is changing the practice of prenatal diagnosis
worldwide. It provides high sensitivity and specificity in screening for common aneuploidies …