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Researchers developed a DNA test that could help identify in early stages of pregnancy, Down syndrome
The test developed by a group of researchers at Brown University, can be offered after the 10 weeks of pregnancy to women who are identified as having high risks for giving birth to babies with Down syndrome.
The study was conducted with a group of approximately 4.500 women pregnant identified as having high risks of abnormalities. Out of these, 212 cases had been diagnosed with Down syndrome.
Using this test, researchers were able to identify 98.6% of the cases with Down syndrome, while other 0.2% of the cases that have been mistakenly identified as positive.
Trisomy 21, or the Down syndrome, is disorder at chromosomal level that leads most often to mental retardation and the development of heart diseases. According to statistics, in the United States, this disorder affects up to one to 550 babies born annually and usually can be seen in a higher rate at babies with older parents (both mother and father).
This disorder occurs when all or part of an extra chromosome 21 is present in the genes of the child which leads to the disorder at chromosomal level.
Currently, a diagnosis of the disease can be made using serum and ultrasound markers and information from the first and second trimester of pregnancy. The current tests can detect approximately 90% of the cases, with a 5% chance of mistake, while the new DNA test has a higher rate of accuracy (98%) and can provide a diagnosis in a shorter period of time.
The result of this research is very important for providing patients an accurate diagnosis, especially taking into consideration that many pregnant women take the decision to do an abortion after finding out the diagnosis. Furthermore, being able to diagnose as early as possible the disease, can help scientists further come up with possible treatments.
The study was a partnership between researchers from the Warren Alpert Medical School of Brown University and Sequenom Centre for Molecular Medicine.
The research has been published in the journal "Genetics in Medicine", October issue.
