Noninvasive prenatal DNA testing: the vanguard of genomic medicine
L Hui, DW Bianchi - Annual review of medicine, 2017 - annualreviews.org
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years,
this screening test has revolutionized prenatal care globally and opened up new prospects …
this screening test has revolutionized prenatal care globally and opened up new prospects …
Expanding the indications for cell-free DNA in the maternal circulation: clinical considerations and implications
GC Di Renzo, JL Bartha, CM Bilardo - American journal of obstetrics and …, 2019 - Elsevier
Noninvasive prenatal testing for fetal aneuploidy using cell-free DNA has been widely
integrated into routine obstetrical care. The scope of cell-free DNA testing has expanded …
integrated into routine obstetrical care. The scope of cell-free DNA testing has expanded …
[HTML][HTML] Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
RB Lefkowitz, JA Tynan, T Liu, Y Wu… - American journal of …, 2016 - Elsevier
Background Current cell-free DNA assessment of fetal chromosomes does not analyze and
report on all chromosomes. Hence, a significant proportion of fetal chromosomal …
report on all chromosomes. Hence, a significant proportion of fetal chromosomal …
Systematic analysis of copy‐number variations associated with early pregnancy loss
Y Wang, Y Li, Y Chen, R Zhou, Z Sang… - … in Obstetrics & …, 2020 - Wiley Online Library
Objectives Embryonic numerical and structural chromosomal abnormalities are the most
common cause of early pregnancy loss. However, the role of submicroscopic copy‐number …
common cause of early pregnancy loss. However, the role of submicroscopic copy‐number …
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 …
invasive prenatal testing (NIPT) to cover the entire genome. We aimed to compare the …
[HTML][HTML] Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies
H Hu, L Wang, J Wu, P Zhou, J Fu, J Sun, W Cai, H Liu… - Human genomics, 2019 - Springer
Background Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free
fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in …
fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in …
Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing
AM Breman, JC Chow, L U'Ren, EA Normand… - Prenatal …, 2016 - Wiley Online Library
Objective The goal was to develop methods for detection of chromosomal and
subchromosomal abnormalities in fetal cells in the mother's circulation at 10–16 weeks' …
subchromosomal abnormalities in fetal cells in the mother's circulation at 10–16 weeks' …
[HTML][HTML] Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies
L Sagi-Dain, LC Vig, S Kahana, S Yacobson… - Genetics in …, 2019 - Elsevier
Purpose To evaluate the diagnostic yield of chromosomal microarray (CMA) in pregnancies
with normal ultrasound. Methods This retrospective cohort analysis included all pregnancies …
with normal ultrasound. Methods This retrospective cohort analysis included all pregnancies …
Non-invasive pre-implantation aneuploidy screening and diagnosis of beta thalassemia IVSII654 mutation using spent embryo culture medium
WQ Liu, JQ Liu, HZ Du, JW Ling, XF Sun… - Annals of …, 2017 - Taylor & Francis
Background: Cell-free nuclear DNA has been isolated from spent embryo culture medium.
Whether this small amount of DNA can be amplified at the whole genome level and the …
Whether this small amount of DNA can be amplified at the whole genome level and the …
Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y
P Benn - Clinical genetics, 2016 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) based on cell‐free DNA in maternal plasma is being
expanded to include additional chromosome abnormalities beyond those involving …
expanded to include additional chromosome abnormalities beyond those involving …