Preventing Genetic Disease

Some people know their children would be at risk for disease. They might know they are at higher risk because of their age, or because they already have an affected child. Other people would like to become parents and do not know what genetic traits might put them at risk.

Parents carrying certain genetic traits will face challenges when trying to have children.

Testing for Genetic Diseases

The reproductive medicine experts at Baystate Health offer Preimplantation Genetic Testing (PGT) to help find and prevent serious genetic diseases in embryos. We use PGT to diagnose genetic diseases like Sickle Cell Anemia, Duchenne's Muscular Dystrophy, or Cystic Fibrosis. We also test for a "chromosomal translocution," which is a condition that does not affect the parent but could cause a miscarriage when trying to conceive. 

These genetic tests are intended to prevent certain genetic disorders from being passed from parent to child.

There are three types of genetic tests:

PGT-M: testing for single gene disorders such as cystic fibrosis or sickle cell disease

PGT-A: screening embryos for extra or missing chromosomes

PGT-SR: testing embryos for structural chromosome rearrangements 

What is the process for PGT?

Testing begins with the normal process of in vitro fertilization (IVF), which includes egg retrieval and fertilization in a laboratory. PGT is done after egg retrieval and before implantation.

We work with a specialized genetics lab to find embryos that are free of genetic problems. Once we find those problem-free embryos, you will continue the IVF process to establish a healthy pregnancy.

Why choose PGT?

If you have had repeated pregnancy loss or repeated IVF failures or if you are over age 35, you may opt for genetic testing. A PGT-A test is used to screen for aneuploidy, a condition (Down's syndrome, for example) where there is an extra or missing chromosome. In most cases, aneuploid embryos will cause miscarriage.  PGT can greatly reduce the chance of miscarriage.

We work with a specialized genetics lab to find embryos that are free of genetic problems. Once we find those problem-free embryos, you will continue the IVF process to establish a healthy pregnancy.

Who can benefit from PGT?

Consider PGD if you:

• Are a carrier of a sex-linked genetic disorder
• Are a carrier of single-gene disorder
• Have a chromosomal disorder
• Are age 35 and over
• Have experienced repeated pregnancy loss
• Have had more than one failed fertility treatment