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Women who were better informed chose fewer prenatal genetic tests

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Prenatal genetic testing remains complex

“The finding that women who were fully informed about various prenatal testing options were less likely to undertake invasive testing is important, and contradicts the notion that more information is always desired. It is possible that the nature of prenatal testing is different than other health care decisions, but the public may be increasingly aware that the numerous medical advances of the last decade also have created greater complexity in decision making. This finding also suggests that prenatal genetic testing decisions require a complex calculus that considers the timing of the testing, the certainty of the results, and the risks of invasive genetic testing during pregnancy.

“Most women are somewhere between wanting the most sophisticated testing and declining all testing. While seeking reassurance through prenatal testing, they acknowledge that difficult information may be revealed. Many admit not knowing exactly what decisions might be made based on receiving difficult information until they have it. For these women, providing information about testing options, with scenarios that illustrate the risks and benefits of each test as well as assisting with values clarification, is important before embarking on any particular testing strategy,” according to Dr. Siobhan M. Dolan.

Dr. Dolan is a professor of obstetrics and gynecology specializing in reproductive genetics at the Albert Einstein College of Medicine in New York. She gave her comments in an editorial to Dr. Kuppermann’s report (JAMA 2014;312:1203-5). She reported no relevant financial conflicts.


 

FROM JAMA

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Pregnant women who used an interactive computer program to help them decide whether to undergo prenatal testing were 55% less likely to choose invasive testing than women who received standard prenatal care, even when they were offered free testing, researchers reported online Sept. 23 in JAMA.

Women who used the computer program also were more likely to correctly estimate the risks of amniocentesis-related miscarriage and fetal trisomy 21, said Miriam Kuppermann, Ph.D., of the University of California, San Francisco, and her associates. “

If validated in additional populations, this approach may result in more informed and preference-based prenatal testing decision making and fewer women undergoing testing,” the investigators said.

An interactive computer program on prenatal genetic testing may result in fewer women undergoing invasive testing. ©Kativ/iStockphoto

An interactive computer program on prenatal genetic testing may result in fewer women undergoing invasive testing.

The multicenter study included 710 English- or Spanish-speaking women who were at 20 weeks’ gestation or less.

A bilingual actress narrated the computer program, emulating a “warm and knowledgeable friend” and emphasizing “the personal nature of prenatal testing decisions,” said the researchers.

The control group received prenatal care based on current guidelines, and did not receive financial support for prenatal tests beyond their own insurance plans, the investigators added (JAMA 2014 Sept. 23 [doi:10.1001/jama.2014.11479]).

Medical record reviews showed that the intervention group was significantly less likely to pursue amniocentesis or chorionic villi sampling than was the control group (5.9% vs. 12.3%; odds ratio, 0.45; 95% confidence interval, 0.25 to 0.80). In addition, computer program users were more than three times as likely to forego testing altogether and more than twice as likely to elect screening alone than to choose screening followed by invasive testing.

Although the computer program did not address cell-free DNA testing, the findings should extend to these tests because they cover the same conditions, the researchers said.

The intervention group also was more likely to correctly estimate the risk of amniocentesis-related miscarriage (73.8% vs. 59.0%; OR, 1.95 [95% CI, 1.39-2.75]) and the age-adjusted chance of fetal trisomy 21 (58.7% vs. 46.1%; OR, 1.66 [95% CI, 1.22-2.28]) than the control group, Dr. Kuppermann and her associates reported.

The National Institutes of Health and the March of Dimes Foundation funded the study. Dr. Kuppermann reported receiving research support from Ariosa Diagnostics, Verinata Health, and Natera. Two coauthors reported receiving funding or stock options from Verinata Health, Natera, Ariosa Diagnostics, and Cellscape. The authors disclosed no other financial conflicts.

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