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Several European countries are experimenting with the widespread introduction of NIPT (non-invasive prenatal testing) instead of standard prevalence screen. Netherlands nationwide study has also been conducted to introduce NIPT as a first-level test for all pregnant women. The experimental results indicate the high potential of this type of screening.

Marked by acute temporary confusion, disorientation and/or agitation, postoperative delirium is the most common post-surgical complication in older adults, striking as many as half of adults older than 65 who undergo high-risk procedures such as cardiac surgery or hip replacements. Postoperative delirium is also tightly linked to Alzheimer's disease (AD). Although each can occur independently,

Thousands of rare diseases cumulatively affect millions of people across the globe, yet because each case is so rare doctors struggle to accurately diagnose and effectively treat individual patients. Every time a patient with an unspecified disorder walks into a new clinic or shows up in an emergency room, doctors must start from scratch. The patients often go through years of such experiences before they ever get a diagnosis.

The American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) have released new joint consensus recommendations to help guide the evaluation of constitutional copy number variants (CNVs) in a consistent way across clinical laboratories.

Two genes that appear to help stem cells in the intestine burn dietary fat may play a role in colon cancer, according to a new study. The study describes a new connection between the way cells consume fat and how genes regulate stem cell behavior in the intestines of mice.

Following a nearly 25-year search across three continents, parents of a pair of sisters -- who as children slowly became paralyzed from the waist down -- finally have a diagnosis. Thanks to a chance viewing on French TV of a story about another physically disabled child who regained her mobility after being diagnosed at TGen, the parents of the two sisters contacted TGen, hoping to end their decades-long diagnostic odyssey