Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Choose your Article Focus | NGS | Molecular & Serology

Highlights from the ESHG and ESHRE 2020 Virtual Conferences

Category: NGS, NIPT, Women's health, Reproductive Health, Non-invasive Prenatal Testing, PGT, Preimplantation genetic testing

Posted by Agnes Caruso on Aug 20, 2020
The plans for this year’s NIPT and PGT conferences, like many others, were quickly derailed by the COVID-19 pandemic. The ESHG and ESHRE Annual Meetings were moved to virtual space and even though the format was a new experience, the science did not disappoint. Here we will share some of the highlights from the sessions.
Read More

Supporting High-Quality Testing for Women’s Health

Category: NIPT, Breast Cancer, Reproductive Health, Non-invasive Prenatal Testing, HIV

Posted by Agnes Caruso on May 15, 2020
This week is National Women’s Health week1 and is dedicated to women to focus on their health and take steps to improve it. As Women’s Health week traditionally starts on Mother’s Day, we tend to focus primarily on Reproductive Health but it is important to look at the complete picture as some women encounter various conditions and treatments prior to starting a family. Women’s health encompasses things like fertility, pregnancy, infections, cancer, but also many underlying health conditions such as hypertension, diabetes, cardiovascular or respiratory conditions. Many of women’s health problems can be diagnosed by using advanced testing methods. As the technology develops and becomes more complex, ensuring the best performance of the tests is even more critical. With better testing, it is possible to improve outcomes for women around the world.
Read More

Evolution of non-invasive prenatal testing (NIPT) testing

Category: NGS, NIPT, #Quality, New Reference Material, reference materials, trisomy, Reproductive Health, Non-invasive Prenatal Testing

Posted by Agnes Caruso on Feb 5, 2020
Prenatal screening for aneuploidy has changed dramatically since the 1970s. Non-invasive methods developed in the 1980s and 1990s, combined measurements of maternal serum analytes and ultrasonography. The problem with those methods was not just a high false-negative rate of 12% to 23%, a high positive rate of 5% and a poor sensitivity, ranging from 50% to 95% 1. Uncertain results frequently led to invasive procedures such as amniocentesis or chorionic villi sampling to perform karyotyping on fetal samples. Both of those procedures carry a risk of miscarriage.
Read More

What is Non-Invasive Prenatal Testing (NIPT)?

Category: NIPT, #Quality, New Reference Material, reference materials, trisomy, Reproductive Health

Posted by SeraCare Team on Jan 20, 2020
Fetal aneuploidy affects about 9 in 1,000 live births. The definition of aneuploidy is an abnormal number of chromosomes ; with 23 pairs of chromosomes in humans, 46 is the normal number, while aneuploidy individuals will have 45 or 47.  In trisomy, there is one additional chromosome, typically chr21, 18 or 13 (it is not a coincidence that these are the smallest chromosomes in humans).  Historically, the invasive methods amniocentesis and chorionic villus sampling (CVS) were used with risk to the pregnancy, with about a 1% chance of miscarriage due to the procedure. Non-invasive methods based upon ultrasound and serum biomarkers are useful screening tests, but were of limited reliability as they were indirect measures of chromosomal abnormalities1.   Photograph courtesy of Flickr user Can H.
Read More