Doctors Should Test for Down Syndrome

Mar. 23 --

TUESDAY, May 8 (HealthDay News) -- A leading association of obstetricians and gynecologists is urging pregnant women to take note of its new recommendation that doctors offer to screen them for Down syndrome, no matter how old they are.

But the association is emphasizing that it's not recommending that all pregnant women be screened automatically.

"Not every patient wishes to utilize this type of information," said Dr. Deborah Driscoll, chairwoman of the obstetrics-gynecology department at the University of Pennsylvania. She made her remarks Monday at the American College of Obstetricians and Gynecologists' annual meeting, in San Diego.

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

Despite technological advances, it's still anything but simple for pregnant women to determine what 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're 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 -- are both considered invasive and pose a small risk to the fetus.

In January, the American College of Obstetricians and Gynecologists recommended 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," said Dr. James D. Goldberg, medical director at San Francisco Perinatal Associates and immediate past chairman of the association's Committee on Genetics.

The ultimate decision about screening, though, should remain with the mother, the doctors said. 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," Goldberg said. "A lot of things go into individual risk decision-making."

Also at the American College of Obstetricians and Gynecologists meeting on Monday, doctors urged their colleagues to pay more attention to the problem of depression during and after pregnancy.

"It is very common, yet it's something we don't screen for," said Dr. Paul A. Gluck, an associate clinical professor of obstetrics and gynecology at the University of Miami Miller School of Medicine in Florida. By contrast, he said, doctors routinely screen pregnant women for birth defects that are very rare.

Even if doctors do think about screening for depression, some are "afraid about opening a Pandora's box" by discovering that a woman is depressed and not knowing what to do about it, Gluck said.

He said the solution is a system that allows for referrals that bring women the help they need.

More information

Learn more about the new recommendations from the American College of Obstetricians and Gynecologists.

SOURCES: Deborah Driscoll, M.D., chairwoman, obstetrics-gynecology department, University of Pennsylvania, Philadelphia; James D. Goldberg, M.D., medical director, San Francisco Perinatal Associates; Paul A. Gluck, M.D., associate clinical professor of obstetrics and gynecology, University of Miami Miller School of Medicine, Fla; May 7, 2007, presentation, American College of Gynecologists and Gynecologists annual meeting, San Diego