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Extending non-invasive prenatal testing to non-invasive prenatal diagnosis

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2018
Molecular prenatal diagnosis of genetic conditions has historically required invasive procedures to obtain a sample of tissue from a developing pregnancy—either from the placenta (chorionic villus sampling) or from the amniotic fluid (amniocentesis).
Rachel Helen, Horton   +1 more
openaire   +2 more sources

Non-invasive prenatal testing in the context of IVF and PGT-A

Best Practice & Research Clinical Obstetrics & Gynaecology, 2021
The high incidence of chromosome aneuploidy in human gametes and embryos is a major cause of in vitro fertilization (IVF) failure and miscarriage. In order to improve live birth rates with single embryo transfer, the use of preimplantation genetic testing for aneuploidy (PGT-A) has significantly increased.
Dana Kimelman, Mary Ellen Pavone
openaire   +2 more sources

Physician Liability and Non-Invasive Prenatal Testing

Journal of Obstetrics and Gynaecology Canada, 2014
Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to ...
Maeghan, Toews, Timothy, Caulfield
openaire   +2 more sources

Non‐invasive prenatal testing 10 years on

Prenatal Diagnosis, 2021
This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.
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Non-invasive prenatal testing

British Journal of Midwifery, 2020
George F Winter shares his views on NIPT and how it influences decision-making
openaire   +1 more source

Realising the promise of non-invasive prenatal testing

BMJ, 2015
It should transform the quality of antenatal care The presence in maternal plasma of cell-free fetal DNA, which is pregnancy specific1 and represents the whole of the fetal genome,2 offers enormous promise for the development of a wide range of prenatal genetic tests.
Lyn S, Chitty, Mark, Kroese
openaire   +2 more sources

Non-invasive prenatal testing for Down syndrome

Seminars in Fetal and Neonatal Medicine, 2014
Prenatal screening and diagnosis of Down syndrome and other major aneuploidies may be transformed following the identification of cell-free fetal DNA in maternal plasma at the end of the last millennium. Next generation sequencing has enabled the development of tests that accurately predict the presence of fetal trisomies by analysis of cell-free DNA ...
Philip, Twiss   +3 more
openaire   +2 more sources

Insurance and geographic variations in non‐invasive prenatal testing

Prenatal Diagnosis, 2022
Key pointsWhat is already known about this topic? Single‐site studies suggest racial, ethnic, and insurance disparities in use of Non‐invasive prenatal testing (NIPT). Population‐level research from outside the U.S. highlights significant geographic variations in NIPT uptake. What does this study add?
Jacqueline Ellison   +4 more
openaire   +2 more sources

Non-invasive Prenatal Testing (NIPT)

DeckerMed Obstetrics and Gynecology, 2019
Non-invasive prenatal testing (NIPT) is a screening test that can determine if a pregnancy is at high risk for the common aneuploidies by analyzing cell-free fetal DNA in the maternal bloodstream. The screening includes trisomy 21, trisomy 18, and trisomy 13, with the option of screening for sex chromosome aneuploidy and fetal sex.
Mary-Alice Abbott, Courtney Manning
openaire   +1 more source

Non-invasive prenatal testing of pregnancies at risk for phenylketonuria

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2018
Background Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test (NIPT) for PKU using circulating single molecule amplification and ...
Huikun Duan   +8 more
openaire   +2 more sources

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