The accuracy of cell‐free fetal DNA‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis
FL Mackie, K Hemming, S Allen… - … Journal of Obstetrics …, 2017 - Wiley Online Library
Background Cell‐free fetal DNA (cff DNA) non‐invasive prenatal testing (NIPT) is rapidly
expanding, and is being introduced at varying rates depending on country and condition …
expanding, and is being introduced at varying rates depending on country and condition …
cell-free fetal DNA in the maternal circulation as an indication of placental health and disease
ES Taglauer, L Wilkins-Haug, DW Bianchi - Placenta, 2014 - Elsevier
In human pregnancy, the constant turnover of villous trophoblast results in extrusion of
apoptotic material into the maternal circulation. This material includes cell-free (cf) DNA …
apoptotic material into the maternal circulation. This material includes cell-free (cf) DNA …
Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
Background Prenatal diagnosis of chromosome abnormalities through the analysis of
amniocytes or chorionic villus samples (CVS) is an accepted part of prenatal care …
amniocytes or chorionic villus samples (CVS) is an accepted part of prenatal care …
Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease
MD Pertile, M Halks-Miller, N Flowers… - Science translational …, 2017 - science.org
Whole-genome sequencing (WGS) of maternal plasma cell-free DNA (cfDNA) can
potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or …
potentially evaluate all 24 chromosomes to identify abnormalities of the placenta, fetus, or …
Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X
RP Rava, A Srinivasan, AJ Sehnert… - Clinical …, 2014 - academic.oup.com
BACKGROUND: Noninvasive prenatal testing based on massively parallel sequencing
(MPS) of cell-free DNA in maternal plasma has become rapidly integrated into clinical …
(MPS) of cell-free DNA in maternal plasma has become rapidly integrated into clinical …
Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results
Purpose: Noninvasive prenatal screening for fetal aneuploidy analyzes cell-free fetal DNA
circulating in the maternal plasma. Because cell-free fetal DNA is mainly of placental …
circulating in the maternal plasma. Because cell-free fetal DNA is mainly of placental …
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic …
RP Porreco, TJ Garite, K Maurel, B Marusiak… - American Journal of …, 2014 - Elsevier
Objective The objective of this study was to validate the clinical performance of massively
parallel genomic sequencing of cell-free deoxyribonucleic acid contained in specimens from …
parallel genomic sequencing of cell-free deoxyribonucleic acid contained in specimens from …
Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?
DW Bianchi, L Wilkins-Haug - Clinical chemistry, 2014 - academic.oup.com
BACKGROUND: Over the past 2 years, noninvasive prenatal testing (NIPT), which uses
massively parallel sequencing to align and count DNA fragments floating in the plasma of …
massively parallel sequencing to align and count DNA fragments floating in the plasma of …
Genomic diagnosis for pediatric disorders: revolution and evolution
Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
B Bayindir, L Dehaspe, N Brison, P Brady… - European Journal of …, 2015 - nature.com
Noninvasive prenatal testing by massive parallel sequencing of maternal plasma DNA has
rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13 …
rapidly been adopted as a mainstream method for detection of fetal trisomy 21, 18 and 13 …