Prenatal Genetic Screenings
Below is a list of screening tests available to you. These tests are not diagnostic; they only provide information about risk. These tests are done through bloodwork and do not carry risk to a fetus.
These tests are not always accurate. False positives, as well as false negatives, are rare, but might occur. Normal tests do not guarantee your baby will be perfectly healthy.
If any of the tests come back abnormal, additional testing may be recommended. Information has been provided to you on each of these diagnostic and screening tests. Please refer to the provided information and let us know if you have any questions and which testing you are interested in having.
Cystic Fibrosis (CF) Carrier Screening (Anytime)
CF is a very serious lung disease with an average life expectancy of 40 years. The carrier rate is as high as 1 person in 24. If you test positive as a carrier of CF, your partner will likely need testing. If your partner is not a carrier your risk for having a child with CF is significantly reduced, but not zero. If your partner is also carrier of CF your risk of having a child with the disorder is 1 in 4. A negative test does not guarantee that your baby is not affected. This test does not need to be repeated with your next pregnancy.
Spinal Muscular Atrophy (SMA) Carrier Screening (Anytime)
SMA is a serious muscular disease with symptoms that may be mild with normal life expectancy or severe with shortened life expectancy. It has a carrier rate as high as 1 person in 47. If you test positive as a carrier of SMA, your partner will likely need testing. If your partner is not a carrier your risk for having a child with SMA is significantly reduced, but not zero. If your partner is also carrier of SMA your risk of having a child with SMA is 1 in 4. A negative test does not guarantee that your baby is not affected.
Duchenne Muscular Dystrophy (DMD) Carrier Screening (Anytime)
DMD causes muscles to become weak and damaged over time and is eventually fatal. DMD can occur in both sexes but male offspring are more frequently and severely affected by the disorder. The severe form of DMD is generally only passed on from the mother, so male partners are not tested for DMD. If a woman is a carrier of DMD she has a 1 in 4 chance of having child who, if male has DMD, if female is a carrier of DMD. She has a 50% chance of having a child, male or female, who is not affected. A negative test does not guarantee that your baby is not affected. This test does not need to be repeated with your next pregnancy.
Fragile X Syndrome (FXS) Carrier Screening (Anytime)
FXS is a genetic disorder that causes intellectual disability and behavioral and learning challenges. FXS can occur in both sexes but male offspring are more frequently and severely affected by the disorder. The severe form of FXS is generally only passed from the mother, so male partners are not tested for FXS. The number of women who carry this as high as 1 in 150. A negative test does not guarantee that your baby is not affected. This test does not need to be repeated with your next pregnancy.
Pan-ethnic Standard Carrier Screening (14 conditions tested) (Anytime)
Some ethnic groups have increased rates of other serious disorders that have onset early in life, negatively effect quality of life, cause cognitive or physical impairment, or require surgical or medical intervention. Individuals who are Black, Mediterranean, Asian, French Canadian, and Ashkenazi Jewish are at increased risk. If you test positive as a carrier of any of these disorders, your partner will likely need testing. A negative test does not guarantee that your baby is not affected. This test does not need to be repeated with your next pregnancy.
First Trimester Screen (11-13 weeks)
Non-invasive blood test and ultrasound that screen for trisomy 13, 18 and 21 (Down Syndrome). Occasionally other rare genetic disorders are detected. It is repeated with each pregnancy.
Sequential Screen (15-20 weeks)
A follow-up non-invasive blood test that is used in combination with the first trimester screen described above to give the most accurate results in a low-risk population for trisomy 13, 18, 21 and open neural tube defects. It is repeated with each pregnancy.
Cell Free DNA (10.5 + weeks)
An alternative to the first trimester screen and sequential screen, this test is used to screen for trisomy 13, 18, 21, and sex aneuploidies. This test is also able to identify fetal sex. Not all insurance companies will fully cover this test for patients younger than 35. It is repeated with each pregnancy.
AFP Only (15-20 weeks)
A blood test that screens for open neural tube defects only. It is repeated with each pregnancy.
Your OB/GYN provider will talk to you about genetic screenings and will address any questions or concerns. You will be asked to sign a form ensuring that you understand the information about each test, and you will need to accept or decline those tests you would like performed.