Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Sequencing of circulating cell-free DNA during pregnancy
DW Bianchi, RWK Chiu - New England Journal of Medicine, 2018 - Mass Medical Soc
Sequencing of Circulating Cell-free DNA during Pregnancy | New England Journal of Medicine
Skip to main content The New England Journal of Medicine homepage Advanced Search …
Skip to main content The New England Journal of Medicine homepage Advanced Search …
[HTML][HTML] TRIDENT-2: national implementation of genome-wide non-invasive prenatal testing as a first-tier screening test in the Netherlands
KRM van der Meij, EA Sistermans, MVE Macville… - The American Journal of …, 2019 - cell.com
The Netherlands launched a nationwide implementation study on non-invasive prenatal
testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 …
testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 …
Down syndrome
Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of
clinical features commonly known as Down syndrome (DS). DS is among the most …
clinical features commonly known as Down syndrome (DS). DS is among the most …
Ultrasensitive Monolayer MoS2 Field-Effect Transistor Based DNA Sensors for Screening of Down Syndrome
Field-effect transistor (FET) biosensors based on low-dimensional materials present the
advantages of low cost, high speed, small size, and excellent compatibility with integrated …
advantages of low cost, high speed, small size, and excellent compatibility with integrated …
[HTML][HTML] The emergence and global spread of noninvasive prenatal testing
V Ravitsky, MC Roy, H Haidar… - Annual review of …, 2021 - annualreviews.org
Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around
the world. It carries numerous benefits but also raises challenges, often related to …
the world. It carries numerous benefits but also raises challenges, often related to …
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
K Van Den Bogaert, L Lannoo, N Brison… - Genetics in …, 2021 - nature.com
Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed
prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first …
prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first …
Discordant non‐invasive prenatal testing (NIPT)–a systematic review
TS Hartwig, L Ambye, S Sørensen… - Prenatal …, 2017 - Wiley Online Library
With a high sensitivity and specificity, non‐invasive prenatal testing (NIPT) is an
incomparable screening test for fetal aneuploidy. However, the method is rather newly …
incomparable screening test for fetal aneuploidy. However, the method is rather newly …
[HTML][HTML] High-definition medicine
The foundation for a new era of data-driven medicine has been set by recent technological
advances that enable the assessment and management of human health at an …
advances that enable the assessment and management of human health at an …
[HTML][HTML] Down syndrome: current status, challenges and future perspectives
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy
of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and …
of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and …