New guideline: All pregnant women should be screened for Down syndrome

WASHINGTON -- There's a big change coming for pregnant women: Down syndrome testing no longer hinges on whether they're older or younger than 35.

This week, the American College of Obstetricians and Gynecologists begins recommending that every pregnant woman, regardless of age, be offered a choice of tests for this common birth defect.

The main reason: Tests far less invasive than the long-used amniocentesis are now widely available, some that can tell in the first trimester the risk of a fetus having Down syndrome or other chromosomal defects.

It's a change that promises to decrease unnecessary amnios -- giving mothers-to-be peace of mind without the ordeal -- while also detecting Down syndrome in moms who otherwise would have gone unchecked.

The new guideline is published in the January issue of the journal Obstetrics & Gynecology.

About one in 800 babies has Down syndrome, a condition where having an extra chromosome causes mental retardation, a characteristic broad, flat face and small head and, often, serious heart defects.

Prenatal diagnosis also is important for those who wouldn't consider abortion, because babies with Down syndrome can need specialized care at delivery that affects hospital selection, said Dr. James Goldberg of San Francisco Perinatal Associates, a member of the ACOG committee that developed the guideline.

Women who don't seek prenatal care until the second trimester can still undergo blood tests known as the triple or quadruple screens.

The guideline also says women of any age can choose to skip the screening and go straight for invasive testing, an approach that might appeal to those with chromosomal defects in the family.

"This new recommendation makes a lot of sense," said Dr. Nancy Green of the March of Dimes. "Maternal age no longer plays such an important role because the screening is better."

Each test comes with pros and cons, and the new guideline advises doctors to check what's available in their communities -- nuchal translucency testing isn't easy to get everywhere -- and discuss the best options with each patient.