Preimplantation Genetic Diagnosis

a blog by Laurence A. Jacobs, M.D., Fertility Centers of Illinois, March 5, 2012

As a fertility doctor, many of the articles I have written and topics I discuss with patients revolve around the issues of genetic screening, diagnosis and treatments.

When talking about these issues, I am not only advising from the perspective of a medical professional. I am also a father. My daughter Miriam has Tuberous Sclerosis, a serious genetic disorder that causes tumors to form in many different organs, such as the brain, eyes, heart, kidney, skin and lungs. The disease affects people in many ways, with some so mildly affected it goes undiagnosed, while most may experience frequent seizures, developmental delays, mental retardation or autism.

It is estimated that there are 50,000 people in the United States with Tuberous Sclerosis; however many people have never heard of the disease. This is the way it often is with many genetic diseases caused by single gene defects.