Genetic Screening Now an Option in First-Trimester

ByABC News
June 29, 2004, 2:41 PM

June 30, 2004 -- Women can now opt for tests to screen for genetic defects in the first trimester of their pregnancy, according to a new opinion issued by a leading organization of a obstetricians and gynecologists.

The non-invasive screenings for chromosomal abnormalities, including Down Syndrome, can be performed as early as 10 weeks into the pregnancy using new ultrasound technologies, says the American College of Obstetricians and Gynecologists, or ACOG.

"The major benefit is that we can now offer a non-invasive, no-risk procedure to detect women at risk of a chromosomal abnormality during the first trimester, enabling them to have a definitive test [known as chorionic villus sampling, or CVS] if they are at risk," says Lauren Streicher, an obstetrician-gynecologist at Northwestern Memorial Hospital in Chicago.

This new technique is valuable to women who want to know of any potential problems earlier in their pregnancy.

According to experts, testing for chromosomal abnormalities during the first trimester is widespread in the United States and is also common in Europe.

"Some obstetrical practices have it as part of their routing screening in all pregnancies," says Mary Murry, director nurse-midwifery services at the Mayo Clinic in Rochester, Minn.

But this is the first time that ACOG the premier OB/GYN academic body has sanctioned its use. Traditional screening tests, including amniocentesis, are only available during the second trimester.

How Do the Tests Work?

A woman can have the screenings with a certified ultrasonographer between 10 and 14 weeks into the pregnancy.