MaterniT21 PLUS laboratory-developed test

http://articles.marketwatch.com/2012-06-05/finance/32033722_1_blood-tests-amniocentesis-screening

New breakthroughs in prenatal screening

Jeanette Pavini's Buyer Beware

Blood tests offer hope for better accuracy, fewer invasive procedures

SAN FRANCISCO (MarketWatch)—New prenatal screening tests that could improve accuracy and reduce the need for amniocentesis and other potentially risky procedures are becoming widely available to pregnant women in what doctors are calling a new era in genetic testing.

“We’re at a pivotal time in medical history, where the past 20 years of focused work in the field of genetics has now been translated into testing [that’s more affordable and widely available], said Dr. Genevieve L. Fairbrother, a partner at Obstetrics and Gynecology of Atlanta, who also serves as chief of the medical staff at Atlanta’s Northside Hospital.

“This is a screening test on a healthy population and not simply reserved for experimental cases or on people who are already afflicted with a condition,” she said of one of the new tests, the Harmony Prenatal Test from Ariosa Diagnostics. “It’s a game changer because of its accuracy, ease of use and timing early in the pregnancy.”

Until recently, women and their doctors had fewer choices when it came to prenatal testing for fetal genetic conditions such as Down syndrome.

Those choices included, depending on the situation, less precise blood tests or amniocentesis, a procedure in which a sample of amniotic fluid surrounding the fetus is removed and examined, to diagnose or rule out some birth defects and genetic disorders.

Blood tests are “less painful, there is less anxiety,” Fairbrother said. “It’s less scary for patients. ... But for an amnio, you tell them you’re going to stick a 4-inch needle through their abdomen into their uterus and be less than an inch away from their baby—it’s a big decision.”

But, when “you tell them you’re going to draw two more vials of blood when you draw the other vials of blood at the first obstetric visit? They feel like ‘what’s two more? Sure, go ahead,’” she said.

The new blood tests include Ariosa’s Harmony test, Sequenom’s (US:SQNM) MaterniT21 PLUS laboratory-developed test, and Verinata Health’s verifi prenatal test. Ariosa announced last month an agreement with LabCorp (US:LH) that makes its test the first widely available—through LabCorp’s 1,500 patient service centers in the U.S., starting this week.

Dr. Michael Randell, an obstetrician and gynecologist in private practice in Atlanta, said his patients have responded enthusiastically to Ariosa’s Harmony test as a noninvasive option. “An amniocentesis is an invasive procedure that has associated risks, including miscarriage,” Randell said. “Patients are definitely concerned about having an amniocentesis.”