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 9 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 of advanced maternal age (35 or older) or have an abnormality on ultrasound.
- Carrier Screen: This is a comprehensive panel that tests for common 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 recommend 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.
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.