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To Pick and Choose

Preimplantation Genetic Diagnosis

By Heather Johnson Durocher

As a teenager, Michelle Steinhart of Irvine, Calif., was labeled a carrier of the genetic disease hemophilia. Even at that young age, she realized the dangers the disease presented to someday conceiving a child. That child could end up living a pain-filled life, similar to her father's.

Steinhart, 31, grew up watching her father suffer the effects of hemophilia, a disease so severe that he was not expected to live past 10 years old. In and out of hospitals throughout her childhood, her father succumbed to the disease in his 50s.

"It meant a lifetime of pain and hospitalization and internal bleeding," she says. "It was horrible. It was a lot of pain for him and my family."

As a carrier of the disease, Steinhart would likely pass on an active form of the disease to a son. If she had a daughter, however, the girl would likely be a carrier or have a mild form of the disease. Hemophilia is a bleeding disorder caused by low levels of or absence of a blood protein that is essential for clotting.

After Steinhart married her husband, Michael Rappoport, she was eager to start a family. She was also deeply concerned about having a child with hemophilia. The couple explored their options, including adoption and the possibility of high-tech gender selection.

The couple ultimately opted for medical intervention. Through in vitro fertilization (IVF) and one of the newer advances in reproductive medicine – preimplantation genetic diagnosis (PGD) – Steinhart and Rappoport are now the parents of a baby girl, Samantha Ruby.

The procedure allowed the couple to select the female embryo, removing the risk of giving birth to a male child who would suffer from the disease. The process wasn't easy emotionally, financially or physically, but it did give them what they so desired: a healthy baby. "I would do it 100 times over to have my baby," Steinhart says. "I feel so blessed to have her."

Want to see more?

• Pre-implantation Genetic Diagnosis: Ensuring Your Baby's Health
• High-Tech Babies: Artificial Insemination
• When a Miscarriage Isn't Nature's Way
• Talk about it!