All women are offered genetic testing to screen for birth defects and genetic problems, such as Down syndrome or brain and spinal column defects.
- If your doctor thinks that you need any of these tests, talk about which ones will be best for you.
- Be sure to ask about what the results could mean for you and your baby.
- A genetic counselor can help you understand your risks and tests results.
- There are many options now for genetic testing. Some of these tests carry some risks to your baby, while others do not.
Women who may be at higher risk for these genetic problems include:
- Women who have had a fetus with genetic problems in earlier pregnancies
- Women, age 35 or older
- Women with a strong family history of inherited birth defects
In one test, your health care provider can use an ultrasound to measure the back of the baby's neck. This is called nuchal translucency.
- A blood test is also done.
- Together, these two measures will tell if the baby is at risk for having Down syndrome.
- If a test called a quadruple screen is done in the second trimester, the results of both tests are more accurate than doing either test alone. This is called integrated screening.
Another test, called chorionic villus sampling (CVS), can detect Down syndrome and other genetic disorders as early as 10 weeks into a pregnancy.
A newer test, called cell free DNA testing, looks for small pieces of your baby's genes in a sample of blood from the mother. This test is newer, but offers a lot of promise for accuracy without risks of miscarriage.
There are other tests that may be done in the second trimester.