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Format: 04/16/2014
Format: 04/16/2014


West Penn Allegheny Health System Department of OB/GYN Offers Parents-to-Be New Non-Invasive Test to Detect Fetal Abnormalities

Thursday, March 29th, 2012

MaterniT21 Can Be Used as Early as 10 Weeks Gestation         
PITTSBURGH – A simple blood test that rules out certain fetal abnormalities, reassuring anxious parents-to-be without invasive methods such as amniocentesis or CVS (chorionic villus sampling), is now being offered by physicians at West Penn Allegheny Health System (WPAHS).
The MaterniT21 Plus test, developed by Sequenom, detects with near-100 percent accuracy pregnancies affected with Trisomy 21 (Down syndrome.)
MaterniT21 is appropriate for mothers-to-be age 35 years or older, those at increased risk of Trisomy 21 as shown by a first or second trimester screen, those with a family history of Down syndrome, and also when fetal abnormalities are seen on an ultrasound. In the United States, there are an estimated 750,000 such high-risk pregnancies each year.
“In the past, patients were offered amniocentesis or CVS for these indications, but many declined due to fear of complications associated with these diagnostic tests,” said Christann Jackson, MD, Director of Reproductive Genetics at WPAHS. “This test provides another option before going directly to invasive testing.
“This is a very exciting time in prenatal genetics, as we will be able to provide reassuring results to very anxious patients without risking pregnancy loss,” Dr. Jackson said.
Down syndrome is a genetic condition marked by mental and physical development delays and decreased life expectancy. The risk of having a child with Down syndrome increases with the mother’s age, though other factors also play a role.
The MaterniT21 test can be performed starting at 10 weeks gestation, and will be offered as one of several options after genetic counseling. It uses a sample of the mother’s blood to test for Trisomy 21, and is a more direct fetal screen than previous similar blood tests.
It can also detect Trisomy 18 and 13, which cause severe intellectual and physical disabilities.
If the MaterniT21 test is positive for any of these genetic markers, further diagnostic testing will be offered to confirm the results. Routine first and second trimester screening remains the standard of care for patients who are not at high risk.
“With MaterniT21, we can provide our patients with critical information earlier than ever before, and for most patients, provide information that will ease their fears,” Dr. Jackson said.
The test can be scheduled with a physician referral through the Division of Reproductive Genetics at West Penn Hospital by calling 412.578.5514 or the Division of Maternal-Fetal Medicine at Allegheny General Hospital by calling 412.359.3437.
For more information, contact:
West Penn Allegheny Health System
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