WASHINGTON — A simple Pap smear may one day offer a way to screen for birth defects a little earlier in pregnancy than today’s prenatal tests.

Women typically get a Pap during early pregnancy, and Wayne State University researchers report Wednesday that they can capture enough fetal DNA from the cells that the test extracts to check for genetic abnormalities.

The new study is very small, and much more research is needed. But if the approach eventually pans out, researchers say it might be possible to use as early as five weeks into pregnancy and to detect more disorders noninvasively.

Aside from better known chromosome abnormalities such as Down syndrome, “there are about 6,000 other genetic disorders which we currently have a hard time to assess noninvasively and as early,” said Wayne State associate professor Sascha Drewlo, co-author of the study in Science Translational Medicine. He calls defects caused by single gene mutations “the biggest gap” in prenatal testing.

Today’s main options are invasive tests – amniocentesis and CVS, or chorionic villus sampling – that analyze a sample of amniotic fluid or placenta tissue. They carry a small risk of miscarriage. Amniocentesis typically is performed around 15 weeks and CVS around 10 weeks.

A blood test offers a slightly earlier and noninvasive option by analyzing small amounts of fetal DNA that float in a pregnant woman’s bloodstream. Worrisome results are supposed to be verified by an invasive test. Early diagnosis isn’t just about deciding whether to go forward with a pregnancy but can affect prenatal care and what care a baby might need at birth.

Dr. Catherine Spong of the National Institutes of Health, which helped fund the study, called the research “really nicely done and helpful to the field,” but echoed caution. Spong said as the research continues, it might shed more light on placenta formation.


Only subscribers are eligible to post comments. Please subscribe or login first for digital access. Here’s why.

Use the form below to reset your password. When you've submitted your account email, we will send an email with a reset code.