If your baby is at risk for certain genetic problems, our Austin obgyns will discuss your prenatal genetic testing options with you
When you are pregnant, your obgyn will thoroughly discuss your family history of inherited diseases and birth defects to determine if your baby is at risk for genetic problems such as cystic fibrosis, spinal muscular atrophy or Fragile X syndrome. Our Austin obgyns, staff and genetic counselors will talk with you and explain the risks and the types of prenatal genetic testing available to provide you with information.
Reasons to consider prenatal genetic testing
Some of the reasons you may consider pursuing prenatal genetic testing include:
- You are age 35 or older at the time of delivery
- You have a history of more than two miscarriages, a stillbirth or a prior child born with birth defects, or a family history of these problems
- You or your partner are concerned that you may be a carrier of a hereditary disorder
- You or your partner are from an ethnic background that puts you at risk for genetic disorders
- You feel that you or your partner have a job, lifestyle or medical history that may pose a risk to the pregnancy (such as exposure to radiation, medications, chemicals, infection or drugs)
- You are a couple that consists of first cousins or close relatives
Our Austin obgyns require that patients who choose to pursue prenatal genetic testing receive genetic counseling services and we also recommend having preconception carrier screening prior to conception for preventive care.
Specific genetic disease testing
Some of the specific diseases we can test for with prenatal genetic testing include:
- Cystic fibrosis CF is an inherited disease that causes excessively thick secretions throughout the body, often leading to severe health problems, including breathing and digestive problems and frequent hospitalizations. There is no cure for CF.
- Spinal muscular atrophy (SMA) SMA is a nerve and muscle wasting disease that can cause death in infancy or childhood.
- Fragile X Syndrome Fragile X causes intellectual disabilities, and it is the second most common cause of intellectual disabilities after Down syndrome.
- Ethnic specific diseases There are several genetic diseases that vary in frequency between ethnic groups, including sickle cell anemia and Tay-Sachs.
Chorionic villus sampling (CVS)
After talking to our Austin obgyns and genetic counselors, you may decide to undergo chorionic villus sampling. This type of prenatal genetic testing takes a tissue sample from your placenta and tests that sample for genetic defects.
CVS, performed between the 10th and 12th week of pregnancy, is performed two different ways: transcervically, where the doctor obtains a sample by inserting a catheter through your cervix into the placenta, or transabdominally, where the sample is obtained by inserting a needle through the abdomen and uterus into the placenta.
If you choose to have CVS, you may also need to consider having amniocentesis between week 16 and 18 of your pregnancy to screen for neural tube defects, something that CVS cannot detect.
Our Austin obgyns will provide guidance and information for you and your partner as you make decisions about prenatal genetic testing
Your baby’s future is important to you, and it’s important to us, too. Contact us today to learn more about prenatal genetic testing as well as preconception carrier screening.