Genetic Disorders: Can they be inherited by my baby?

We know that some genetic disorders can be inherited and  passed from generation to generation. The testing for these inherited disorders is called Carrier Screening, and is sometimes recommended when you become pregnant. This screening can identify Tay-Sachs disease, sickle cell disease, fragile X syndrome, cystic fibrosis, and many others. In most cases, both biological parents must be positive for the same inherited condition for the disorder to be passed on to the baby, but in some instances, it is important to perform Carrier Screening because genetic disorders may require special treatment and be life-limiting or life-threatening. Learn more about Carrier Screening and whether it is appropriate for you. 

• Screening tests will tell you if you carry the genes for various inherited disorders or conditions
  • Carrier Tests:
    • completed by collecting a blood, saliva or tissue sample from the inside of the cheek on the biological parents of the child
    • can be done before pregnancy or at any point in the pregnancy
    • often the person carrying (or going to carry) the baby is checked first, if they come up positive for one of the disorders or conditions, then the other biological parent is tested
    • if both parents are positive, there is a 1 in 4 or 25% chance of the baby having the disorder

• Diagnostic testing will tell you for sure if your baby has the disorder by testing cells from the amniotic fluid or placenta. You often need a positive screening test (above) from both biological parents to consider moving on to one of these diagnostic tests.
  • Amniocentesis: In this diagnostic test, a needle is used to collect a sample of amniotic fluid from the uterine cavity via the mother’s abdomen.
  • Chorionic Villus Sampling (CVS): In this test, a needle and/or catheter is used to collect a placenta sample via the abdomen or the cervix.

Completing these screening and diagnostic tests is a personal decision that should reflect your beliefs and values. Some people want to know as much as possible before delivery, and if the screening returns positive, they choose to move on to diagnostic testing. Often these women want to be as prepared as possible for the baby’s arrival. Some women with a positive diagnostic test may decide to end the pregnancy in certain situations. Still, others may choose not to have any testing and to take it as it comes, if it comes. 

We are happy to review the options for testing and screening with you to help guide you to the right decision—the one that works best for you and your family.