New test detects up to 98.6% of cases
The old testing methods of amniocentesis or chronic villus sampling (removing a small piece of the placenta from the uterus during early pregnancy for testing). These two invasive procedures which have a small risk of inducing miscarriage. This new test just may be valuable for decreasing the need of the more risky testing.
According to researchers these new test just may be accurate enough to replace the old invasive testing methods.
By using a sample of the mother’s blood the fetal DNA is examined. On Monday, Sequenom, company headquarters in San Diego, California, will be offering this first new test in twenty major cities. Sequenom, a biotechnology company in the past had worked on a Down Syndrome test had been damaged by gossip over inventing information which had ended with of top officials being terminated.
Sequenom MaterniT21 which only requires the mother’s blood in order to discover chromosomal abnormality which causes Down Syndrome. This test can be done when the mother is only ten weeks pregnant.
This study which has been published Monday online in the journal of Genetics in Medicine had revealed this new test by Sequenom had attained up to 98.6% Down Syndrome cases. The company lays claims 99.1% accuracy. The false positive rate of this test (indicating Down Syndrome when it was not present) was 0.2%.
According to the company this test detects Trismoy21 the genetic chromosome anomaly, the most common cause of Down Syndrome.
Dr. Stephen A. Brown, associate professor of obstetrics and gynecology at the University of Vermont, remarked that this testing you will have dramatically decreased few procedures. Dr. Brown has no financial relationship with any of the companies.
Dr. Jacob A. Canick, PhD, professor of pathology and laboratory medicine at Brown University, senior author of study stated the test is “better than anything by far in testing for Down Syndrome non-invasively”.
This test would be ordered by physicians only. All samples to be analyzed would be sent to Sequenom laboratory. The test will cost around the same amount as an amniocentesis $1,900. Privately insured women would need to pay $235 of their own money with the company assuming the risk of getting the insurers to pay the rest of the money. At this time it remains unclear how willing insurance will be to pay for this test.
At this time the FDA has not approved this test. The agency usually does not regulate tests by a single laboratory although the agency does remark it may start.
In the state of New York this test will not be readily available due to the states own approval process.
There are growing concerns among some people who believe this early testing could end up in more abortions of fetuses with minor abnormalities, wrong sex, or undesired father.
Dr. Brian G. Skotko, M.D., MPPH, with the Down Syndrome Program at Children’s Hospital Boston shares his view point. Dr. Skotko, believes the number of American women who will have to cope with this information prenatal will greatly increase. Dr. Skotko points out the fact these tests could encourage more people to end their pregnancies. This would produce a decrease in the number of people with this condition and lead to fading support for them. Dr. Skotko sister has Down Syndrome.
The company notes that this test was meant for the 75,000 women each year in the United States who are regarded as high risk after initial screening. According to researchers those who test negative on this new test may feel at ease and wish to skip the more invasive test.
Dr. Canick does note that those women who test positive will still be advised to have the more conclusive invasive tests before terminating pregnancy.
There are drawbacks to this new test. For example it does not detect other chromosomal abnormalities which include rare forms of Down Syndrome not caused by triple chromosomes. Another negative aspect is the estimated two week wait time for results which delays amniocentesis which leaves less time for termination of pregnancy.
Down Syndrome is noted by mild to moderate mental retardation, unusual facial characteristics and other medical problems such as pulmonary hypertension.
According to the National Down Syndrome Congress (NDSC) one in every 800 to 1,000 children is born with Down Syndrome. Eighty-percent of these children are born to women under 35.
Children with Down Syndrome benefit from a loving home, education, early intervention, appropriate medical care and positive public attitudes. When reaching adulthood, many hold down regular jobs, live independently enjoy community life.
In Detroit for children with Down Syndrome:
Detroit Institute for Children
Main Office
5447 Woodward
Detroit
313-832-1100
For More information on Down Syndrome visit the National Down Syndrome Society online.
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