August 27, 2001

Health Center physicians have brought to Connecticut a new diagnostic testing program that helps couples with genetic disorders give birth to healthy babies.

The program, known as preimplantation genetic diagnosis (PGD), uses in vitro fertilization and advanced genetic testing to identify genetic diseases before a pregnancy is established.

The first couple to successfully use the test is expecting twins before the end of the year. "This is the first pregnancy in the state to occur using PGD," says Claudio Benadiva, director of the PGD program at the Center for Advanced Reproductive Services. "We're really pleased by our ability to help this couple."

The couple's second child was born with a rare genetic condition and died after four months. "It was a devastating experience for them," says Dr. Benadiva. "They are now happily awaiting the birth of their twins."

Patients who are accepted into the program undergo in vitro fertilization, with eggs retrieved from the mother and sperm obtained from the father. The patient's eggs and the resulting embryos are analyzed for genetic defects. Only embryos that do not possess disease-causing genes are implanted into the mother.

The actual testing of the cells removed from the eggs and the embryos is done by a highly specialized laboratory in Chicago. Samples are sent to the laboratory and results are returned to the Health Center within one or two days.

"Currently, it is possible to screen for about 36 life-threatening and debilitating genetic diseases, including cystic fibrosis, Tay-Sachs and hemophilia" says Benadiva.

"Unfortunately, many parents find out they are carriers of a genetic defect only through the birth of a child who suffers from the disease or disorder," he says. "This program not only holds the promise of reducing the incidence of genetic disease, but also gives new options to families at risk.

"Because we can screen the embryos before pregnancy, we give the couple hope that they can give birth to healthy children."

Referrals come from obstetricians and genetic counselors around the state. "Patients have also begun to call us themselves about the program," says Benadiva. All potential patients are referred to the Division of Human Genetics at UConn for extensive screening and counseling.

The procedure costs between $12,000 and $15,000 and is not generally covered by insurance. The Health Center now has three couples participating in the testing program.

Kristina Goodnough