There are many options for genetic testing in pregnancy depending on your needs. The most common options will be reviewed below. It is your responsibility to have an understanding of your insurance coverage of these tests and the financial cost to you. Both your insurance company and the test manufacturer can be resources to you for estimating cost.
- NIPT: This is a blood test drawn on the patient that can be collected as early as 10 weeks. It screens for Downs syndrome, Trisomy 18 and Trisomy 13 and abnormalities associated with sex chromosomes. This test also determines fetal sex. This test is sometimes covered if you are advanced maternal age (35 or older) or have an abnormality on ultrasound.
- Carrier Screen: This is a comprehensive panel that tests for 274 genetic conditions. This is not likely to be covered by your insurance and should you desire this level of testing, please contact the practice and we can provide you with resources to research cost estimation.
- Cystic Fibrosis: ACOG and SMA recommends the patient be screened for CF mutation with subsequent partner testing if she is a carrier. Many insurance companies do not cover this screening. Call your insurance company to see if this test is covered. You may also want to confirm if the cost of this test will be passed on to you through your deductible.
- Sequential Screen: This test screens for Downs syndrome, Trisomy 18 and open neural tube defects. It is typically covered by insurance but you may confirm coverage by calling your insurance company. This test requires a transvaginal ultrasound to take pictures of the baby’s neck between 11 and 13 weeks of pregnancy and a blood draw on the patient at the ultrasound visit and an additional blood draw between 15 and 20 weeks.
There is more invasive testing available called chorionic villi sampling and amniocentesis, if you desire this level of testing, please notify your physician and referral to a Maternal Fetal Medicine specialist will be made.