Chinese Study Suggests New Way to Test for Genetic Diseases: MedlinePlus

Chinese Study Suggests New Way to Test for Genetic Diseases
Method involves sampling fetal DNA present in mother's blood

URL of this page: http://www.nlm.nih.gov/medlineplus/news/fullstory_106426.html (*this news item will not be available after 03/08/2011)

By Robert Preidt
Wednesday, December 8, 2010
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WEDNESDAY, Dec. 8 (HealthDay News) -- A new test that requires only a tiny sample of a mother's blood to scan the genome of a fetus may offer a safer alternative to current methods of prenatal screening for genetic diseases, a new study suggests.

Currently, a sample of fetal tissue is collected using invasive procedures such as amniocentesis or chorionic villus sampling, both of which pose a small but definite risk to the fetus.

But, Chinese researchers found that fetal DNA floating in the mother's blood contains the entire fetal genome and can reveal a number of genetic and chromosomal disorders in the fetus.

They used the method on a couple undergoing prenatal diagnosis for a type of genetic anemia called beta-thalassemia. The results showed that the fetus had inherited the beta-thalassemia mutation from the father and a normal gene from the mother, meaning the fetus was a carrier of the disease.

The study is published in the Dec. 8 issue of Science Translational Medicine.

SOURCE: Science Translational Medicine, news release, Dec. 8, 2010
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Chinese Study Suggests New Way to Test for Genetic Diseases: MedlinePlus