Non-invasive prenatal testing: a review of international implementation and challenges

M Allyse, MA Minear, E Berson, S Sridhar… - … journal of women's …, 2015 - Taylor & Francis
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal
chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant …

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 …

Non‐invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next‐generation sequencing allows for a safer, more accurate, and comprehensive …

LS Chitty, S Mason, AN Barrett, F McKay… - Prenatal …, 2015 - Wiley Online Library
Objective Accurate prenatal diagnosis of genetic conditions can be challenging and usually
requires invasive testing. Here, we demonstrate the potential of next‐generation sequencing …

Methods for non-invasive prenatal ploidy calling

M Rabinowitz, G Gemelos, M Banjevic, A Ryan… - US Patent …, 2018 - Google Patents
The present disclosure provides methods for determining the ploidy status of a chromosome
in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising …

Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA

LS Chitty, YMD Lo - Cold Spring Harbor …, 2015 - perspectivesinmedicine.cshlp.org
The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the
most significant change in obstetric care for decades, with the advent of safer screening and …

Noninvasive prenatal testing goes global

S Chandrasekharan, MA Minear, A Hung… - Science translational …, 2014 - science.org
Noninvasive Prenatal Testing Goes Global | Science Translational Medicine news careers
commentary Journals Science Science brought to you byGoogle Indexer Log in science …

Noninvasive prenatal genetic testing: current and emerging ethical, legal, and social issues

MA Minear, S Alessi, M Allyse, M Michie… - Annual review of …, 2015 - annualreviews.org
Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the
analysis of cell-free fetal DNA became commercially available in 2011. The low false …

Recommended pre‐test counseling points for noninvasive prenatal testing using cell‐free DNA: a 2015 perspective

A Sachs, L Blanchard, A Buchanan… - Prenatal …, 2015 - Wiley Online Library
Noninvasive prenatal testing (NIPT) using cell‐free DNA is being offered to an increasing
number of women. Comprehensive pre‐test counseling is complicated by emerging …

System and method for cleaning noisy genetic data and determining chromosome copy number

M Rabinowitz, M Banjevic, Z Demko… - US Patent …, 2019 - Google Patents
Disclosed herein is a system and method for increasing the fidelity of measured genetic
data, for making allele calls, and for determining the state of aneuploidy, in one or a small …

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

P Grant, S Langlois, LD Lynd… - Clinical …, 2021 - Wiley Online Library
Full coverage of the cost of clinical genetic testing is not always available through public or
private insurance programs, or a public healthcare system. Consequently, some patients …