Optional Pregnancy Testing for Birth Defects Overview
As a service to our patients, we offer the highest level of pregnancy testing to test for birth defects if you choose to have these tests performed. The birth defects that are eligible for screening are:
- Down’s syndrome and Trisomy 18 which cause mental retardation and heart defects and are caused by the baby having an extra chromosome.
- Cystic fibrosis which is a breathing disease where children have a lot of respiratory infections.
- Sickle cell anemia which is a painful disease affecting blood cells.
- Spina bifida or open neural tube defects where the spinal cord doesn’t close properly.
- Other genetic conditions more commonly found in the Ashkenazi Jewish population. Please alert us if this is your family heritage.
How to perform pregnancy testing?
- Down’s and Trisomy 18: We perform first trimester screening by doing an ultrasound between 11-14 weeks of pregnancy with a blood draw on you, the patient. These results put together then give us a risk number for your case at your age of having a baby with the condition. For example, a negative result will say that you have a 1/5000 chance of having a baby with Trisomy 18. We also offer the MaterniT 21 test on our high risk population and can discuss that if necessary. The only definitive test is called an amniocentesis which is a procedure where the doctor takes a little amniotic fluid from around the baby and sends that fluid for chromosome testing.
- Cystic fibrosis can be screened for by drawing blood on you, the patient, and possibly also the father of the baby. This test is covered by insurance usually, but can be expensive for those with high deductible plans.
- Sickle cell anemia is a blood test on you, the patient, that is usually covered by insurance if there is African American heritage in the family line.
- Spina bifida is tested for by a blood draw at around 16-18 weeks, and is usually covered by insurance.
Please feel free to check with your insurance company on your personal benefits prior to your first appointment to avoid any financial surprises.
Another option in your pregnancy is banking the baby’s umbilical cord blood. This cord blood could be stored and used one day as a cure if your baby were to develop a rare blood disorder. This is a procedure that is not covered by insurance and can cost approximately $2000 paid to the banking company. We are happy to perform the collection for you at the time of delivery if you choose to bank your baby’s cord blood. There are several private companies that offer this service.