Family planning and coordination of care for a child born with health conditions are significant concerns for the in vitro diagnostics (IVD) community, which is increasingly involved in the prenatal testing market. While ethical con- siderations will arise with further market development, prenatal, postnatal, and maternal testing are viable, prom-…

Roche is acquiring Ariosa Diagnostics, a San Jose-based molecular diagnostics testing service provider that offers non-invasive prenatal testing (NIPT) through their CLIA laboratory using cell-free DNA (cfDNA) technology. Ariosa’s Harmony Prenatal Test is designed to assess the risk of Down syndrome and other genetic abnormalities by evaluating fetal cfDNA found…

Illumina entered three separate deals with three European labs under which they will use Illumina's consumables and the HiSeq 2500 to develop and perform noninvasive prenatal testing (NIPT) in their respective nations. French lab-testing service firm Biomnis will make NIPT available in France, Italian molecular genetics lab Genoma will perform…

By Blair Stevens Blair Stevens Uncertain genetic testing results are not an unusual event in the field of genetic counseling. Obstetricians routinely refer patients to genetic counselors to help them navigate unclear prenatal genetic testing results by reviewing the complexities of genetic information and discussing the…

Sponsor: Invitae Invitae has added non-invasive prenatal screening (NIPS) to the its women’s health genetic testing services. In combination with the expanded carrier screening (ECS), Invitae now offers integrated testing using the two most common prenatal genetic tests, with in-depth follow-up testing available for patients who need it. Invitae’s NIPS…

Prenatal genetic testing has advanced enormously over the last few decades. Amniocentesis and chorionic villus sampling (CVS) have been performed to diagnose fetal abnormalities for many years, but these tests are invasive and not without problems. The risk for miscarriage is low (approximately 1 in 1,000 for amniocentesis and 1…

In the dozen years since the sequencing of the human genome, the pace of innovation in genetic testing has exploded. We are now able to screen, diagnose, and monitor numerous medical conditions based on insights gleaned from lab tests based on genetic markers identifiable in a blood specimen. For many…

As one of the more controversial topics in diagnostics today, reproductive genetic testing (RGT) has become a lightning rod for political rhetoric and a font of misconception within the general populace. Science fiction would have us believe that RGT will be used to make designer super babies that are disease…

Prenatal screening for detection of a wide range of monogenic disorders and chromosomal abnormalities has been available to prospective parents for over 40 years. But these screening techniques, including seroscreening and ultrasound, have false positive rates of 5% and 10–15%, respectively, requiring that 1 in 20 women face a decision…

Prenatal screening for Down syndrome first became available for expectant mothers with the advent, in the late 1960s, of a diagnostic test employing amniocentesis and fetal karyotyping. At the time, only one risk factor was considered—the age of the mother. In the ensuing years, discoveries showing the correlation between over-…

Fore Genomics has launched its FORESITE 360 whole genome sequencing (WGS) service, which provides a complete DNA map of newborns, infants, and children using an at-home collection kit. The company says FORESITE 360 reveals genetically linked and clinically manageable diseases a baby or child might have now or could develop…

A same-day test to identify abnormal fetal chromosomes has been developed by a team of scientists. The Short-read Transpore Rapid Karyotyping (STORK) test detects extra or missing chromosomes using samples from miscarriages or prenatal tests, such as amniocentesis and chorionic villus sampling, as well as biopsies from pre-implantation embryos for in…

By the time many couple’s get to the point of an IVF pregnancy, they have already had extensive medical testing and often unpleasant medical procedures, often at a considerable cost. For this reason, prenatal and preimplantation tests to ensure the maximum chance of a healthy pregnancy are popular in this…

Cell-free (cf)DNA based non-invasive prenatal testing (NIPT) hit a milestone last August when the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine recommended it should be offered to all pregnant women regardless of their age or risk status. Since being introduced commercially 10 years ago,…

Startup Orchid already has a wait list for its soon-to-be released new test to predict a child’s risk of common diseases—before conception. The test requires only a saliva sample from each prospective parent, and is based on genetic risk scores calculated by testing for genetic variations. The company also announced…