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Simple Blood Test Could Make Amniocentesis and CVS Test Obsolete

If you’ve even gotten an amniocentesis or chorionic villi sampling, you know that these tests are not easy things to go through. Both procedures involve some level of pain, and more painfully, some level of risk. Miscarriage is a slight but real possibility with any form of invasive prenatal testing.

In order to get reliable information about a fetus’ genetic makeup, one or the other of these tests has been necessary. But a new procedure may soon make these invasive procedures part of pregnancy history.

The testing method is cheap, it’s easy, it’s reliable, and it can be done as part of a routine prenatal visit…maybe even the first prenatal visit. Genetic data can be obtained as early as 6 weeks of gestation. And results can be received in as little as 24-48 hours.

So what is this miracle test?

The test, developed by a group of researchers in the Netherlands, is known as “Multiplex Ligation-dependent Probe Amplification” (MLPA). It uses a genetic probe to look for fetal genetic information in the mother’s blood.  The technique was previously only used on samples from amnio or cvs, but new research shows that it will work on a mother’s blood as well.

The technique is still being developed, and as yet has only been used to parse limited genetic information. But doctors are confident that they will be able to apply the same method used to determine the makeup of xx and xy chromosomes to get information about possible genetic diseases in early pregnancy.

At this stage the test is still somewhat less conclusive than invasive testing, but the authors expect that as the technique is developed the accuracy will improve. They hope the test will be available in clinics in two to five years.

photo: Lori Greig/flickr

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