• Prenatal Genetic Screening Options

    Pregnancy is a very emotionally involved process. From time to time, you are bound to have concerns pop up about the health of your growing baby. Thankfully, there are plenty of prenatal genetic screening options to help you evaluate the health of your baby prenatally.

    Genetic screening may be of interest to you because you have some underlying concerns, or perhaps your aim is to put your mind at ease. No matter what your reasoning, you?ll feel better knowing that you have options to assess the genetic factors of your baby.

    What Types of Prenatal Genetic Screening are Available?

    There are quite a few options when it comes to prenatal genetic screening. Most are available during the first trimester of pregnancy. Some tests assess history and risk, whereas others actually test the fetus?s DNA to determine any abnormalities.

    Carrier Genetic Testing

    During the first trimester, you may want to do carrier genetic testing. This is an optional screening that tests for recessive diseases like cystic fibrosis and spinal muscular atrophy.

    Non-invasive Prenatal Testing (NIPS)

    This type of testing can look for risk factors for triploidy, trisomy 13, trisomy 18, Down syndrome, and Turner?s syndrome by looking at the mother?s blood and analyzing it for fetal DNA fragments. This test is not used to look for all abnormalities, but rather the most common ones. This test provides 97% to 99% accuracy, with a 1% false positive rate.

    First Trimester Screening

    Using the mother?s blood and an ultrasound, this screening tests for trisomy 13, trisomy 18, and Down syndrome with 90% to 95% accuracy. The ultrasound is helpful in measuring the thickness of the fetal neck. A thick fetal neck fold (also called a nuchal fold) is associated with some congenital disorders.

    Alpha Fetoprotein

    A non-invasive screening test for Neural Tube Defects, such as Spina Bifida. This test is done between 15-20 weeks of gestation, and uses a blood sample from mom to assess risk of associated fetal disorders.

    Chorionic Villus Sampling (CVS)

    In performing CVS, a needle is used to extract a sample from the placenta. This is done with the help of an ultrasound and is usually performed between 10 to 13 weeks of pregnancy. The cells from the placenta can then be used to test fetal chromosomes. This can reveal any chromosomal abnormalities or genetic disorders. CVS may be recommended in the case that risk factors are indicated in parental family history.


    Amniocentesis is another early pregnancy test that uses a needle to extract fluid from around the fetus. Like the CVS, this test is done with the help of an ultrasound to ensure the safety of the fetus. Fetal cells found in the fluid can be used to test for chromosomal abnormalities, genetic disorders, and neural tube defects.

    How to Find Someone Qualified to Do Your Prenatal Genetic Tests

    When deciding where to go for your prenatal genetic tests, remember there are two components to a valid test result. First, you will want to make sure you have qualified counsel during the test, and that you have a trusted professional to turn to with any questions you may have about the test and the results.

    Second, you want to ensure that the lab at which your results are being analyzed is also trustworthy. We have labs on site, which allows us to do your screening tests in house and return the results to you faster. That is just another way we provide you with the services that ease your mind in pregnancy.

    When it comes to genetic prenatal testing, you have a lot of options. It helps to have a trusted source guide you through them. If you are interested in prenatal genetic testing, North Shore Associates in Gynecology and Obstetrics is a good place to start. If you?d like more information, please call our Wilmette or Glenview offices to schedule an appointment.