Preimplantation Genetic Testing Program

The Fertility Center at Massachusetts General Hospital offers preimplantation genetic testing (PGD) that helps detect and prevent serious and life-threatening genetic diseases in embryos. Our program's main goals are to:

• Educate patients about this powerful technology
• Prevent genetic disorders from being passed on to your offspring
• Support and guide you through your fertility journey

For couples who undergo IVF, we identify embryos with numeric chromosome abnormalities prior to embryo transfer and establishment of pregnancy. 

We know this process can be long, stressful and emotionally challenging. A mainstay of our approach is fostering an open dialogue that helps us understand each patient's unique needs.

About Our Program

Our program uses a combination of two processes to detect genetic defects prior to pregnancy and eliminate the possibility of the disease occurring in children:

• In vitro fertilization (IVF)
• Preimplantation genetic diagnosis (PGT): a process in which embryos obtained in vitro through assisted reproductive techniques are tested for certain genetic abnormalities

The IVF/PGT procedure is for couples who wish to prevent the passage of genetic abnormalities to their unborn children and those who want their embryos tested for genetic abnormalities while undergoing IVF.

Prevention Through Early Detection

Some of our patients already know they are at risk—either because of their age or from the prior birth of an affected child or through previous genetic testing. For others, the diagnosis comes as an unexpected, incidental finding, the result of routine infertility pre-conceptional testing.

Patients carrying abnormal genetic traits often face reproductive challenges. They must also balance their desire to become parents with their fear of passing these traits to their unborn children. PGT removes the patient's burden, and the birth of an unaffected child to a parent at risk signifies a small "victory" over the disease.

This groundbreaking technology allows us to test for many known genetic abnormalities. Some of the more common genetic diseases we can detect are:

• Beta thalassemia
• Cystic fibrosis
• Tay-Sachs disease
• Down syndrome
• Achondroplasia
• Fanconi's anemia
• Huntington's disease

What to Expect

To reduce the possibility of passing along a genetic disorder, patients must undergo in vitro fertilization (IVF). Using your egg and sperm, embryos are created and cultured in our onsite embryology laboratory. A small number of cells are removed from the growing embryo for biopsy and then sent to a specialized laboratory to perform the indicated genetic test. Only embryos shown to be free of the disease under consideration or free of structural and numeric chromosome abnormalities are subsequently transferred to the woman's uterus.

The actual IVF/PGT cycle takes approximately two weeks to complete. However, the preparatory phase is lengthy and may last a few months, depending on individual factors. During the preparatory phase, much effort goes into designing the diagnostic tools that will reliably detect the genetic defect in the embryo's DNA. In cases where PGT is performed to avoid numeric chromosome abnormalities (extra and missing chromosomes) related to advancing maternal age, no lengthy preparation is needed.  

Experience Matters

All the labs with which we collaborate have performed large numbers of PGT cases and have significant expertise. They can test for multiple gene mutations and for multiple chromosomal abnormalities and are at the forefront of pioneering research into preimplantation genetic screening. Having experienced laboratory scientists and researchers means peace of mind for you as a patient while you undergo a process that can be understandably worrying.

Assistance During a Trying Time

Our compassionate team of experts understands IVF/PGT can on occasion be a lengthy and often stressful process. Our nursing staff is professional and supportive, providing guidance throughout the process, and our experienced social workers help patients with the emotional side of this life-altering experience.

Patients can also participate in the Mind Body Program for Health and Fertility, a program that teaches patients how to develop coping strategies to manage treatments and regain a sense of control and well-being to optimize their chances for a successful pregnancy. We also discuss other solutions to reduce stress, such as acupuncture and yoga.

Helping Build Families Through Coordinated Care

By coming to Mass General, you have access not only to the doctors handling your case but also to world-class specialists throughout the hospital. Patients have the opportunity to:

• Meet with the geneticist to learn about the particular disease and the risks related to their own family history and age
• Discuss with social workers the complex challenges resulting from these new technologies
• Consult with all appropriate subspecialties

All of these services are available under one roof and under the direction of our program, which coordinates all patient care.