New Maternal Blood Test Able to Identify Down Syndrome Early

Down syndrome occurs in one in 691 live births, according to the National Association for Down Syndrome. This genetic disorder results in intellectual and physical development delays. Now, there is a blood test available that would let pregnant women know early on whether or not their baby would be born with Down syndrome. This would allow pregnant women to make choices and decisions, and prepare in advance if their baby were to be found to have Down syndrome while still in the womb.

What is the Blood Test?

The blood test is called MaterniT21 LDT. It indicates trisomy of chromosome 21 by testing maternal blood to detect cell-free fetal DNA. This test will only require the pregnant mother to give a sample of her blood via simple venipuncture. The blood test is just like any other blood test and only takes a minute or two to obtain the sample.

How Early Can Pregnant Women Get the Test?

This specific test can be done in the first or second trimester. This means that women can get tested very early in their pregnancy; early enough to make any choices. This would also give women who decide to go through with the pregnancy plenty of time to learn about Down syndrome and caring for a child with this condition.

How Accurate is This Blood Test?

This blood test for Down syndrome is said to be 98.6 percent accurate. It is said to have a specificity of 99 percent and a sensitivity of 99 percent.

How is Down Syndrome Currently Tested for During Pregnancy?

The current tests can be helpful, but may also be dangerous for some women. This blood test is not dangerous at all. Current testing includes tests such as chorionic villus sampling and amniocentesis. Both of these tests may cause miscarriage by injuring the fetus.

How Widespread is Availability and How Much Does Testing Cost?

It is available nationwide, but only in metropolitan areas. If you live in a rural area, you may have to call around to find a healthcare facility that offers it, and then travel to have it conducted. The reimbursements are said to become similar to those being given for chorionic villus sampling and amniocentesis. The hope is that women will not have to pay more than $235 out of pocket. It is a good idea to contact your health insurance carrier prior to having this done to see how much, if any, will be covered.