Down Screening Urged for All Pregnancies
Women advised to carefully weigh benefits and risks

(HealthDay News) -- Women who are young and expecting shouldn't be flustered if their doctor recommends screening for Down syndrome. Under new guidelines, physicians are urged to offer screening for the chromosomal disorder to all pregnant women, regardless of age.

Screening used to be routinely offered to pregnant women who were 35 and older because the risk of Down syndrome rises with maternal age. But in January 2007, the American College of Obstetricians and Gynecologists (ACOG) revised its guidelines, noting that age alone should not be the determining factor.

However, the group also stressed that testing should remain voluntary and that any decisions should be up to the woman.

"Not every patient wishes to utilize this type of information," Dr. Deborah Driscoll, chairwoman of obstetrics and gynecology at the University of Pennsylvania , said at ACOG's annual meeting.

Babies born with Down syndrome have some degree of mental retardation and might have heart defects and other health problems, says the March of Dimes. But there is no known cure and no way to prevent it.

Every year in the United States , 1,900 to 2,000 babies are born with Down syndrome, according to ACOG. For a 25-year-old woman, the risk of having a baby with the disorder is 1 in 1,250. For a 35-year-old, it's 1 in 378.

"Although older women are at higher risk of having a baby with a chromosomal defect, the majority of babies with Down syndrome are born to women younger than 35 because well over 80 percent of all babies in the U.S. are born to these women," Dr. James D. Goldberg, medical director of San Francisco Perinatal Associates and a past chairman of the association's genetics committee, said in a prepared statement.

ACOG suggests that doctors offer non-invasive screening, specifically an ultrasound test called nuchal translucency and a blood test, to all pregnant women before the 20th week of pregnancy.

While screening does not provide a conclusive answer, it can help determine the likelihood of Down syndrome.

If a woman is identified as being at increased risk of having a baby with Down syndrome, she should be offered genetic counseling and the option of chorionic villus sampling (CVS) or amniocentesis, ACOG said.

CVS involves extracting a tiny tissue sample from the uterus. There are two ways of performing this test, the American Pregnancy Association explains. The doctor can guide a thin tube through the vagina and cervix into the uterus. Alternatively, the doctor can insert a thin needle through the wall of the belly into the uterus.

With amniocentesis, a thin needle inserted through the abdomen and uterus is used to collect a small amount of amniotic fluid for testing, the association explains.

These diagnostic tests pose potential risks, primarily miscarriage, which women should discuss with their doctors, the association adds.

Ultimately, the decision on whether to test is highly individual, with pros and cons, says the American Pregnancy Association.

Confirming a diagnosis might help a woman:

• Pursue potential interventions that might exist.
• Begin planning for a child with special needs.
• Start addressing anticipated lifestyle changes.
• Identify support groups and resources.
• Make a decision about carrying the child to term.

Some people might decide not to pursue testing or additional testing, the association says, because:

• They would be comfortable with the results, no matter the outcome.
• Making a decision about carrying the child to term is not an option because of personal, moral or religious beliefs.
• They do not want to pursue testing that poses any risk of harming the developing baby.

On the Web

To learn more about common pregnancy tests and procedures, visit the National Women's Health Information Center.

SOURCES: HealthDay News ; Deborah Driscoll, M.D., chairwoman, Obstetrics-Gynecology Department, University of Pennsylvania, Philadelphia; James D. Goldberg, M.D., medical director, San Francisco Perinatal Associates; May 7, 2007, presentation, American College of Obstetricians and Gynecologists (ACOG) annual meeting, San Diego; May 7, 2007, ACOG news release; March of Dimes (www.marchofdimes.com); American Pregnancy Association (www.americanpregnancy.org)
Author: Karen Pallarito
Publication Date: June 30, 2008
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