Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis Program

The Preimplantation Genetic Diagnosis Program at Massachusetts General Hospital's Fertility Center helps couples with an increased risk for a specific genetic abnormality to have a child unaffected by that particular disease.


The Fertility Center at Massachusetts General Hospital offers patients preimplantation genetic diagnosis (PGD), a groundbreaking technology that helps detect and prevent serious and life-threatening genetic diseases in embryos.

Our program's main goals are to:

  • Educate patients about this exciting new technology
  • Prevent genetic diseases from spreading from one generation to the next
  • Support and guide patients through their fertility journey

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.

What to Expect

Some of our patients already know they are at risk—either through 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 preconceptional testing.

To reduce the possibility of passing along a genetic disorder, patients must undergo in vitro fertilization (IVF). Using the couple’s egg and sperm, embryos are created and cultured in our onsite andrology laboratory One cell is removed from the growing embryo for biopsy on culture day three and then sent to a specialized laboratory to perform the indicated genetic test. Only embryos shown to be free of the disease under consideration are subsequently transferred to the woman's uterus.

The actual IVF/PGD cycle takes approximately two weeks to complete. However, the preparatory phase is lengthy and may last three to four 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.

Experience Matters

Both of the labs with which we collaborate have been performing PGD since its origins in the early 1990s. 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 patients while undergoing a process that can be understandably worrying.

Assistance During a Trying Time

Our compassionate team of experts understands IVF/PGD is 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.

About this 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 (PGD): a process in which oocytes or embryos obtained in vitro through assisted reproductive techniques are tested for certain genetic abnormalities

The IVF/PGD procedure is for couples at risk for passing on genetic abnormalities to their unborn children.

Prevention Through Early Detection

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. PGD 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 more than 100 abnormalities, and the list is growing every year. Some of the more common genetic diseases we can detect are:

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

Helping Couples Build Families

Irene Souter, MD, has directed the Preimplantation Genetic Diagnosis Program at Massachusetts General Hospital since its inception in 2005. From the beginning, we have succeeded in helping families overcome genetic abnormalities and produce unaffected children.

In addition to Dr. Souter, our program includes:

  • Fertility doctors
  • Geneticists
  • Social workers
  • Embryologists
  • Other specialists (as needed)

By coming to Mass General, patients receive access not only to the doctors handling their 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
  • 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.

Ongoing Research Opportunities

If they wish, Fertility Center patients can participate in multiple research projects. We are currently running a number of studies, including:

  • The effect of body weight on the outcome of our fertility treatments
  • The use of pituitary magnetic resonance imaging (MRI) in patients with mild elevations of the hormone prolacti

Additionally, we are involved with a Harvard School of Public Health study of the impact of environmental agents on fertility. This study is investigating the effects of commonly used chemical compounds on the human reproductive system.

Please contact your fertility physician at the Fertility Center if you are interested in participating in a research study.


Contact Us

Fertility Center

Yawkey Center for Outpatient Care

32 Fruit StreetSuite 10A Boston, MA 02114
  • Phone: 617-726-8868
  • Fax: 617-724-8882

Other Locations

Mass General Waltham

40 Second Avenue, Suite 402
Waltham, MA 02451
Phone: 781-487-3860
Fax: 781-487-3870

Mass General/North Shore Center for Outpatient Care

104 Endicott Street, Suite 304
Danvers, MA 01923
Phone: 978-882-6767
Specialist voicemail: 978-825-6221
Fax: 978-882-6775

Back to Top