Detecting Genetic Disorders Sooner

At just 13 weeks pregnant, Mireille McQuade is looking for reassurance.

She's undergoing a new procedure as early as possible in her pregnancy to see whether or not her fetus is healthy. AsCBS News Correspondent Elizabeth Kaledin reports, doctors like Mark Evans hope to see this technology revolutionize pregnancy screening.

"I believe that the first trimester screening ought to be offered to every patient," says Evans

Called a nuchal translucency test, it's a sonogram that measures the thickness at the back of the fetus' neck. Babies with Down Syndrome have extra skin folds at the back of the neck and studies show that this can be measured in the earliest stages of a pregnancy.

"The larger the nuchal translucency measurement is, the greater the risk that the fetus has a serious genetic disorder," says Evans, who works at St. Luke's Roosevelt Medical Center.

It's easy to the see difference between "reassuring, questionable and bad news" in the pictures.

Combined with blood tests, this early screening procedure can pinpoint a genetic problem 80 percent of the time. But it has two other distinct advantages over the current test for Down Syndrome, amniocentesis. It's non-invasive and it can be done as early as 11 weeks.

Amniocentesis, also highly accurate, requires the use of a large needle, carries a small risk of miscarriage and can only be done in the second trimester.

If something's wrong, women like Marie Grenot, anxious about her first pregnancy want to know right away.

McQuade feels the same way. Approaching age 35, when amniocentesis is recommended she doesn't want to take any chances with her second pregnancy.

"If everything comes up OK on this test, then I don't have to take the amnio, which is something I did not want to take," she says.

If this screening becomes routine nationwide, age will no longer be a factor in determining which tests should be taken during pregnancy and more women will have peace of mind earlier.
  • Jaime Holguin

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