PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders

J Shaw, E Scotchman, N Chandler, LS Chitty - Reproduction, 2020 - rep.bioscientifica.com
The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm
shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus …

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 …

Cell-free fetal DNA testing for fetal aneuploidy and beyond: clinical integration challenges in the US context

M Allyse, LC Sayres, JS King, ME Norton… - Human …, 2012 - academic.oup.com
The recent release of new, non-invasive prenatal tests for fetal aneuploidy using cell-free
fetal DNA (cffDNA) has been hailed as a revolution in prenatal testing and has triggered …

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 …

Noninvasive prenatal testing for fetal aneuploidy and single gene disorders

H Skrzypek, L Hui - Best Practice & Research Clinical Obstetrics & …, 2017 - Elsevier
Highlights•Cell free DNA–the biological basis and the sequencing techniques behind
NIPT.•Clinical performance of NIPT for the common automosomal trisomies and …

Non invasive prenatal diagnosis of fetal aneuploidy using cell free fetal DNA

B Renga - European Journal of Obstetrics & Gynecology and …, 2018 - Elsevier
The discovery of cell free fetal DNA in maternal plasma has stimulated a rapid development
of non-invasive prenatal testing. The recent advent of massively parallel sequencing has …

Noninvasive prenatal testing for aneuploidy–ready for prime time?

LS Chitty, M Hill, H White, D Wright, S Morris - American Journal of …, 2012 - ajog.org
Noninvasive prenatal diagnosis using cell-free fetal DNA in the maternal plasma is moving
into routine clinical practice for some indications. Here we discuss exciting developments in …

Clinical implementation of NIPT–technical and biological challenges

P Brady, N Brison, K Van Den Bogaert… - Clinical …, 2016 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being
offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 …

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 …

Maternal plasma DNA and RNA sequencing for prenatal testing

S Tamminga, M van Maarle, L Henneman… - Advances in clinical …, 2016 - Elsevier
Cell-free DNA (cfDNA) testing has recently become indispensable in diagnostic testing and
screening. In the prenatal setting, this type of testing is often called noninvasive prenatal …