A chromosomeFetal diagnostic testing can sometimes be a point of anxiety and concern for pregnant women who want to make certain their baby is “okay,” meaning they don’t have any genetic problems. In the past 10 years, the field of genetics has unraveled human mysteries because we can now map and analyze the gene sequence of the entire human species, a process known as genomics.

As a result of genomics, scientists are now able to detect genetic problems of a fetus by analyzing its DNA in a mother’s blood as early as 10 weeks as opposed to taking a small sample from the baby’s developing placenta, a procedure known as chorionic villus sampling or CVS. CVS has a small chance of causing a miscarriage whereas the new blood test does not. The new blood test is called “noninvasive” because it does not involve taking a sample from the developing fetus nor does it involve an amniocentesis which is taking a small amount of fluid from around the baby. This is a game changer not only because it is a noninvasive test, but also because it is between 99 to 100% accurate for detecting Down syndrome and other genetic problems associated with the pregnancy.

Unfortunately, this test is not cheap and presently cost approximately $2,700.00 which most insurance companies are not willing to pay. However, if you have a family history of a specific genetic problem that is lethal, meaning causing death, this test would be very appropriate. However, before this test is given, you should always have genetic counseling to determine if it’s necessary.

These are very exciting times because of advances in science. A pregnant mother will know whether or not there is a problem with her baby at an early stage without the possibility of receiving a false positive result. No more amniocentesis and that dreaded 3 to 5 day wait to receive the final result.