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Offer All Pregnant Women Fetal Genetic Testing.

SAN FRANCISCO -- Women aged 35 years and older aren't the only ones who want fetal genetic testing, and they should not be the only ones offered it, according to Miriam Kuppermann, Ph.D.

Recommendations issued by both the American College of Obstetricians and Gynecologists and the U.S. Public Health Service suggest that genetic diagnostic testing should be offered to women aged at least 35 years and those whose risk upon serum screening or another form of screening is at least as high as that of an unscreened 35-year-old woman, she said.

But a study of 512 pregnant women of all ages found that women's preferences regarding genetic testing did not correlate with age, Dr. Kupperman said at an ob.gyn. update sponsored by the University of California, San Francisco.

"All pregnant women should be made aware of these tests and informed of their risks. It's up to them to decide whether the miscarriage risk [from the test] is worth it to get the information" about the possible presence of anomalies, said Dr. Kuppermann of the university.

The implicit assumption in guidelines for offering testing is that women place the same value on two possible negative outcomes: procedure-related miscarriage and giving birth to a baby with a genetic anomaly, she said.

The study investigators asked women in early pregnancy who had not yet undergone prenatal diagnostic testing how much time off of their own life expectancies they would be willing to give up to avoid outcomes such as testing-related miscarriage or birth of a baby with Down syndrome.

Numerical scores based on their answers showed that, on average, the women felt that a miscarriage would be less burdensome than having a baby with Down syndrome, although scores varied widely between individuals.

Scores did not differ significantly by age. Women who were college graduates, had incomes greater than $25,000 per year, or who were married or living with a partner more emphatically preferred miscarriage over genetic anomaly.

Women over age 35 offered prenatal testing chose or rejected it according to their preference scores, lending validity to the numbers.

"We believe the 35-year-old cutoff policy is not supported by the preferences of the women to whom this guideline is applied. Any age- or risk-based policy will fail to account for the substantial variation in preferences among pregnant women," so prenatal testing should be offered to all, Dr. Kuppermann said.

A physician in the audience noted that genetic counseling would be needed for patients to give informed consent. "As a clinician, I certainly don't have time to do genetic counseling with every person," he said.

Dr. Elena Gates, program director of the meeting, said studies show that reading materials, videos, and conversations with a physician or genetic counselor are all effective ways of informing patients about genetic testing. "Different people like different media better, but there are lots of options," said Dr. Gates, a professor of ob.gyn. at the university.

Dr. Kupperman said cost concerns always arise when she proposes offering prenatal genetic testing to all pregnant women. "This procedure is well within the range of what's considered cost-effective even if it's offered to everyone, when the cost per quality-adjusted life year is calculated," she said.

Procedures that economic analyses show cost $50,000-$100,000 per quality-adjusted life-year saved generally are considered cost effective. Offering diagnostic genetic testing to all pregnant women would cost an estimated $13,000 per quality-adjusted life-year, according to Dr. Kupperman.
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Publication:OB GYN News
Date:Dec 15, 1999
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