An ultrasound test called nuchal translucency increasingly is being used as a method to detect the risk that an infant will be born with Down syndrome, the Wall Street Journal reports. The test involves a blood screening followed by an ultrasound about one week later at 11 to 13 weeks' gestation to determine the size of a fetus and the thickness of its neck. According to the Journal, Down syndrome leads to fluid buildup in the back of the neck. The PerkinElmer laboratory unit, which provides first-trimester screenings, has said it has delivered risk assessment results from "greater than one in five" risk of the fetus having Down syndrome to a risk of "less than one in 10,000" (Johannes, Wall Street Journal, 5/8).

Fergal Malone of the Royal College of Surgeons and colleagues in a November 2005 New England Journal of Medicine study administered first-trimester ultrasounds and blood tests and second-trimester blood tests, known as the quadruple screen, to more than 38,000 pregnant women in the U.S. Researchers then followed the women to see which fetuses had Down syndrome. The study found that using the combination of ultrasound and blood screening in the first trimester detected 87% of fetuses with Down syndrome, compared with a detection rate of 81% using only the second-trimester blood test. Combining the first- and second-trimester tests, researchers detected 95% of affected fetuses. About 5% of the time, the tests produced false-positive results, meaning a fetus tested positive for Down syndrome but was later determined not to be affected (Kaiser Daily Women's Health Policy Report, 11/10/05). According the Journal, the study counted risk levels at or below one in 150 as a positive result.

The American College of Obstetricians and Gynecologists in January recommended that all pregnant women be offered nuchal translucency. Based on the personalized risk assessment, a woman can then decide whether to undergo a test, such as chorionic villus sampling, or an amniocentesis, both of which detect almost all cases of Down syndrome but have an increased risk of miscarriage, according to the Journal. About one in 800 infants is born with Down syndrome, the Journal reports (Wall Street Journal, 5/8).

New York Times Profiles Advocacy of Parents of Down Syndrome Children
The New York Times on Wednesday profiled a group of parents of Down syndrome children who are "seeking to insert their own positive perspectives" into the decision of couples who are given a diagnoses that a fetus might have the condition. The group -- which has no formal organization or financing -- is asking to meet with obstetricians, requesting that health care workers give couples their contact information and inviting couples who have been given a prenatal Down syndrome diagnosis to come to their homes and meet their children, the Times reports.

Some parents said their goal is not to force anyone to become a parent of a disabled child but "some see themselves as society's first-line of defense against a use of genetic technology that can border on eugenics," according to the Times. In addition, the parents also are "driven by a deep-seated fear" that there will be far fewer other children with the condition, according to the Times. Health care workers have, "for the most part, responded with caution," the Times reports (Harmon, New York Times, 5/9).