Non-invasive prenatal tests for the detection of fetal aneuploidies are predominantly based on the analysis of cell-free DNA (cfDNA) from the plasma of pregnant women by next-generation sequencing.

In the article that accompanies this editorial, Heesterbeek et al 1 describe clinical follow-up of pregnant women in the Netherlands who had noninvasive prenatal testing results that were suspicious ...

Researchers found that maternal plasma cell-free DNA methylation patterns in late pregnancy were associated with later autism ...

Prenatal genetic testing determines if an offspring is at risk of genetic or hereditary conditions. This can inform the parents of decisions such as keeping the child or not or adjusting to help them ...

For Yuk Ming Dennis Lo, BM BCh, DPhil, a 1996 paper showing the detection of tumor DNA in blood plasma would prove a turning point. Since the 1960s, clinicians had been searching for a way to glimpse ...

Region of homozygosity (ROH) is classified as uniparental disomy (UPD) or identity by descent, depending on its origin. To explore the clinical relevance of ROH in prenatal diagnoses, we reviewed 5063 ...

Researchers at the National Institutes of Health (NIH) found previously undetected cancers in 48.6% of pregnant people who had abnormal results for prenatal cell-free DNA (cfDNA) testing used to ...

A team of investigators from Massachusetts General Hospital (MGH), Brigham and Women's Hospital (BWH), and the Broad Institute of MIT and Harvard have developed a non-invasive genetic test that can ...

Simply put, prenatal DNA testing is a way to check on your baby's health and genetics before they're even born. These tests can provide insights into possible genetic disorders, the baby's sex, and ...

Myriad Genetics, Inc. has launched a new educational website called "Know More Sooner," aimed at providing detailed information about reproductive and prenatal genetic testing. The site seeks to ...

The prestigious medical prizes also recognized the creator of a global Covid dashboard and discoveries of proteins and cell bindings to fight disease. By Benjamin Mueller It was a startling discovery: ...

Can a Late Interception by Circulating Tumor DNA Deliver a Win in Estrogen Receptor–Positive Early Breast Cancer? The following represents disclosure information provided by authors of this manuscript ...