New Prenatal Test For Down Syndrome Less Risky Than Amniocentesis

Pregnant women worried about their babies’ genetic health face a tough decision: get prenatal gene testing and risk miscarriage, or skip the tests and miss the chance to learn of genetic defects before birth.

But a new prenatal test could make this dilemma obsolete. The new method, developed by scientists at Stanford University, the Howard Hughes Medical Institute and Lucile Packard Children’s Hospital, requires only a maternal blood sample to spot chromosomal disorders such as Down syndrome.

“Right now, people are risking their pregnancies to get this information,” said Yair Blumenfeld, MD, a postdoctoral medical fellow in obstetrics and gynecology and co-author of a paper describing the technique.

Current prenatal gene tests, such as amniocentesis and chorionic villus sampling, require inserting a needle in the uterus and carry a miscarriage risk of around half a percent.

“Non-invasive testing will be much safer than current approaches,” said Stephen Quake, PhD, professor of bioengineering and the study’s senior author.

The new technique takes advantage of fragments of fetal DNA in the woman’s blood. Safety may not be the only gain. Quake hopes the test will spot genetic problems much earlier in gestation than the other methods.

Read more at Medical News Today