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New Prenatal Test Quickly Detects Single-Gene Conditions

Update Date: Jan 06, 2017 08:10 PM EST

Scientists at the Chinese University of Hong Kong have developed a new prenatal test that can quickly detect single-gene disorders within the first six to ten weeks of pregnancy. This can help potential parents choose to proceed with the pregnancy if conditions like Huntington's disease or muscular dystrophy were found.

The test can produce results within one to two weeks, using DNA from the parent blood samples that can show not only the level of mutations but any conditions in the mother's blood. It's available for use in over 60 countries. 

In the study, the particular test was able to detect conditions of 12 fetuses whose DNA was at-risk for single-gene disorders. Couple who opted for IVF had their embryos screened using pre-implantation genetic diagnosis (PGD). While typically, amniocentesis was encouraged, doing this particular procedure may increase the risk of miscarriage and can only detect a limited quantity of genetic disorders.

Genetic disease that can be spotted include hemophilia, sickle cell anemia, and cystic fibrosis, all caused by mutations within a single gene. About 10,000 conditions can affect 1 in 100 births. 

Andrew Mclennan, a specialist in prenatal diagnosis at Royal North Shore Hospital in Sydney, Australia, that the results of the test will be able to give parents the appropriate guidance and counselling, making them make the right decisions in terms of their pregnancy. 

On the other hand, this new prenatal test may fire controversy among pro-life groups as it can push parents to commit abortion once finding out their baby's conditions. According to Nettie Burke of Cystic Fibrosis Australia, test results may be life-threatening to the unborn child especially when found with genetic conditions. 


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