Genetic Screening Now an Option in First-Trimester

For hospitals that already have a trained ultrasonographer, the new opinion won't change their current practices.

"We have routinely offered this test for three years and have had a dramatic decrease in the number of women that have amniocentesis since most women find a 95 percent confidence level to be sufficiently reassuring to forego an invasive test," says Streicher.

The organizations adds that, "Although first-trimester screening for Down syndrome … an option, it should be offered only if certain criteria can be met."

These criteria include that ultrasonographers have appropriate training to perform the test, that women have access to information about the different screening options and receive counseling about their choices, and that access to appropriate diagnostic tests when screen results are positive.

Although there are no risks to the test itself, some experts say that there are reasons to remain cautious about interpreting the results from first-trimester screens.

"There is a high rate of false positives for this test and women should be counseled that the only truly diagnostic test is the amniocentesis and this carries a risk of pregnancy loss of 1 in 200," says Murry.

Some experts also wonder about the overall effect of the test.

"All this effort will not improve the premature delivery rate, the cerebral palsy rate, the operative delivery rate, the maternal complication rate at term," says Ralph Dauterive, chief of OB/GYN, of Ochsner Clinic Foundation in Baton Rouge, La.

Yet, the new view will likely mean that the test will become standard care for pregnant mothers. And according to Porto, older women will benefit the most. "For women greater than 35 years of age who traditionally had CVS or amniocentesis routinely, the benefit [to the test] is high detection with reduced of miscarriage as fewer patients require invasive testing."

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