Woman’s Age No Longer Issue for Down Syndrome Screening

But ACOG emphasizes that the recommendation should not be automatically applied to all women.
The new recommendation was presented earlier this week at ACOG’s annual meeting in San Diego.
“Not every patient wishes to utilize this type of information,” says Dr. Deborah Driscoll, chairwoman of the obstetrics-gynecology department at the University of Pennsylvania.

“It’s important for patients to understand that this is voluntary,” adds Dr. Driscoll, who helped draft the association’s recommendations. “Screening isn’t right for every patient, and we have to respect the autonomy of patients.”

What To Do With Test Information?

Despite technological advances, it is still anything but simple for pregnant women to determine what to do after getting test results that suggest possible problems with a fetus.

At issue is the possibility that an unborn child will develop Down syndrome or other conditions related to chromosome abnormalities. Down syndrome can lead to congenital heart defects and mental retardation.

Genetic testing and counseling have traditionally been offered to women aged 35 and over, because they are at highest risk of giving birth to babies with chromosome problems. An estimated one in 92 mothers in this group gives birth to children with chromosomal disorders.

But the traditional screening tests - amniocentesis or chorionic villus sampling (CVS) - are both considered invasive and pose a small risk to the fetus.

Both tests involve inserting a long needle through a woman’s abdomen to obtain fluid or tissue samples for examination in the lab.

The New Recommendation

ACOG now recommends that doctors offer non-invasive screening tests to all mothers before the 20th week of pregnancy. The doctors’ group favors a combination of two tests: nuchal translucency (a type of ultrasound exam), and a blood test.

If either of those tests suggests trouble, amniocentesis or chorionic villus sampling may be offered.

“The important take-home message is this: Better testing is available with higher detection rates and lower false-positive rates,” says Dr. James D. Goldberg, medical director at San Francisco Perinatal Associates and immediate past chairman of the association’s Committee on Genetics.

Mother Should Decide

The ultimate decision about screening, though, should remain with the mother, the doctors say. After all, she must decide whether to continue with a pregnancy if there are indications the child will have a birth defect.

“It’s clear that people make a decision on whether to have basic testing based on a number of factors - age, risk, feelings about having a child with a chromosomal abnormality,” Dr. Goldberg says. “A lot of things go into individual risk decision-making.”