Blood test can diagnose fetal genetic disease in early pregnancy

Blood test can diagnose fetal genetic disease in early pregnancy

January 31, 2019 Source: Science and Technology Daily Author: Liu Xia

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According to a recent report by the British "New Scientist" magazine website, American scientists have developed a new test method that can diagnose the genetic disease of the fetus in the early pregnancy by sequencing a small amount of fetal DNA in the mother's blood.

Two years ago, scientists developed similar tests for recessive monogenic diseases. When one or both parents carry hereditary diseases (such as sickle cell anemia, hemophilia, or cystic fibrosis) Testing is especially useful.

This time, Zhang Jinglan of the Baylor College of Medicine in Texas and his colleagues developed a new test for 30 genes associated with dominant genetic diseases (a copy of a patient's defective gene). Dominant hereditary diseases are usually caused by mutations in sperm, eggs or embryos, and both parents are more common when they are older. One out of every 600 babies born has this disease.

Pregnant women can receive this genetic disease test if the ultrasound indicates abnormalities in the bones of the fetus, or if the father is older. If the test results are positive, the pregnant woman will receive a more invasive test to confirm the diagnosis. If the test is negative, ideally, both parents will need genetic counseling to better manage pregnancy.

The Zhang Jinglan team used this test to test blood samples from 422 pregnant women (more than 9 weeks pregnant) from clinics in the US, Europe and Asia. All test results and subsequent tests confirmed that this preliminary test for maternal blood was correct.

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