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Non-invasive blood test checks for Down syndrome

January 29, 2012

New Jersey mothers have a new, non-invasive test to diagnose Down syndrome.
Sequenom’s MaterniT21, now available at New Jersey Perinatal Associates (NJPA), uses a mother’s blood sample to test for Down syndrome and has a greater than 99% accuracy rate.
“This new test is highly accurate, and since it only requires a blood test, poses no risk to the fetus,” says NJPA’s Dr. Linda M. Peláez, M.D. “The response to this test has been overwhelmingly positive. Patients are excited to know they can get more information on their pregnancy without having to undergo procedures like amniocentesis, which carry a small risk of pregnancy loss.”
Down syndrome, also called Trisomy 21, delays a child’s mental and physical development due to the presence of extra genetic material (namely Chromosome 21). It affects about one in every 800 babies.
The test, developed by Sequenom, tests a mother’s blood sample for an increased presence of Chromosome 21. Since fetal DNA is present in a mother’s blood stream during pregnancy, a higher than usual amount of Chromosome 21 in the blood indicates an increased risk of Down syndrome in the fetus.
Before the availability of this test, fetal abnormalities associated with Down Syndrome were diagnosed using Amniocentesis and Chorionic Villus Sampling (CVS), which are invasive tests that carry small risks of miscarriage or other complications.
“The majority of patients that decline an Amniocentesis or CVS, do so not because they don’t want the information but because they are not willing to take the risks of pregnancy loss. Researchers hope the availability of this test will reduce the amount and need to do more invasive testing,” says NJPA’s Dr. Tania Kasdaglis, MD.
“With the blood test, mothers know with 99% accuracy that the fetus does not have Down Syndrome and decline invasive testing. Over time, I think we will see a reduction in the need for these invasive procedures and fewer losses of pregnancies related to these tests.”
NJPA has five locations including a new office in Westfield.
The test was launched mid-October in the US and has been available to New Jersey area mothers through the NJPA since December. NJPA is one of the few locations in the Tri-State area able to administer MaterniT21. From 10 weeks of pregnancy onward, patients who NJPA doctors consider to be at high risk for Down syndrome are offered this new diagnostic option. NJPA staff contacts insurers for pre-authorization for the test, and since every insurer has different levels of coverage, patients know their coverage level in advance.
Since NJPA specializes in high risk pregnancies, having access to a highly accurate, non-invasive test is good news for patients.
Peláez adds that while MaterniT21 was designed to indicate an increased presence of the 21st Chromosome, using the same science, the test can also detect abnormalities with the 18th Chromosome or the 13th Chromosome, which are associated with other serious abnormalities of the fetus.
“The lab will report back if the test shows extra 13th or 18th chromosomal material,” she says. “While the test is not marketed for this purpose, the lab will alert us if they see abnormal levels. We hope they (Sequenom) will try to validate testing for these additional Chromosomes in the future.”
Down Syndrome risk factors include: mothers 35 years of age or older at the time of delivery; indications of fetal abnormality on the ultrasound; personal history indicative of increased risk including a close relative with a genetic disorder, a child with a birth defect, one to two previous miscarriages, and previous pregnancy loss due to a birth defect such as Down syndrome.


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