If you and your partner have undergone carrier screening and have tested positive for a rare disease, you might be wondering what to do next.
Undergoing prenatal testing, using reproductive technology, and considering adoption are all highly personal choices. We respect the rights of individuals to make family planning decisions that align with their own values and beliefs.
Be sure to consult with your clinician or OB-GYN before making any medical decisions.
Prenatal testing for Tay-Sachs, Canavan, GM1, and Sandhoff disease can be done during pregnancy when parents are known to be carriers. There are two tests that can determine if the pregnancy is affected by these rare diseases.
- Chorionic villi sampling (CVS) involves removing a tiny piece of the placenta for testing. CVS is usually done around the 11th week of pregnancy.
- AmniocentesisA procedure used for prenatal diagnosis, which involves insertion of a needle through the abdomen into the amniotic fluid. This procedure is performed using ultrasound guidance, and allows the physician to obtain a small amount of amniotic fluid which can then be used for testing. Amniocentesis is usually performed between 16 and 18 weeks of pregnancy, but some centers offer "early amnio" at 14 weeks of pregnancy. More involves removing a small sample of the amniotic fluidAmniotic fluid is contained by the amniotic sac. It is used for genetic screening of the fetus. More for testing. It is usually done around the 16th week of pregnancy.
Both tests carry a small risk of miscarriage of less than 1%.
If you and your partner are carriers and would like to undergo prenatal testing, discuss the procedure with your clinician, OB-GYN, or genetic counselor.
If you and your partner are carriers of Tay-Sachs, Canavan, GM1, or Sandhoff disease, you might want to consider assisted reproductive technology when starting a family.
- Preimplantation Genetic Diagnosis (PDG) is a type of testing done as part of in vitro fertilization (IVF) treatment. PDG takes place after the eggs have been retrieved and fertilized in the first stages of IVF. During the procedure, cells from five-day-old embryos are tested for Tay-Sachs, Canavan, GM1, and Sandhoff disease. Typically, a woman will have one or two unaffected embryos implanted at the same time to increase the chance of pregnancy.
- Assisted Reproduction can be performed using donor eggs or sperm in conjunction with IVF. Egg and sperm banks do not typically screen for Tay-Sachs, Canavan, GM1, or Sandhoff disease so it is important that all donor eggs or sperm undergo genetic screening.
Some couples choose to adopt a child instead of getting pregnant. If you and your partner are interested in this path, it’s important to learn about the different types of adoption and understand the adoption process in your state.
Our Family Services Team can connect you with other families who have been through the adoption process.
If you have questions or need help, you’re welcome to contact us at any time. For personal support, email Becky Benson (email@example.com), Family Services Manager or Diana Jussila (firstname.lastname@example.org), Director of Family Services.