trisomy 21
Ancient DNA Analysis Uncovers Cases of Trisomy
Researchers found six Down syndrome cases and one case of Edwards syndrome through screening almost 10,000 ancient samples, all buried at a young age.
Congenital Heart Defect Features of Down Syndrome Spelled Out with Transcriptomics, Mouse Models
Increased DYRK1A gene dosage led to altered expression of mitochondrial and cell proliferation genes in developing cardiac muscle cells, while DYRK1A inhibitors restored activity.
ACMG Strongly Recommends NIPS for Common Trisomies for All Pregnancies
The new guidelines, based on a recent evidence review, also recommend offering NIPS for detecting fetal sex chromosome aneuploidies for singleton pregnancies.
Genome-Wide Noninvasive Prenatal Genetic Testing Uncovers Additional Findings Beyond Common Trisomies
The results from the Dutch TRIDENT-2 study found that many of those findings have a clinical impact.
ACMG Review Finds NIPS Accurately Detects Common Trisomies in General-Risk Pregnancies
The review is going to inform upcoming clinical practice guidelines for noninvasive prenatal screening from the American College of Medical Genetics and Genomics.
Nov 8, 2019
Oct 30, 2019
PerkinElmer Q3 Revenues Grow 5 Percent
Sep 13, 2019
Nov 26, 2018
PerkinElmer Vanadis NIPT Receives CE-IVD Mark
Nov 13, 2018
Mar 21, 2018
Mar 19, 2018
Illumina Sues Natera Over NIPT Library Prep Patent
Jan 19, 2018
Dec 14, 2017