April-June, 2003

Women's Health

Genetic testing: parents-to-be get the latest information about their ‘special deliveries’

The decision to become a parent is one of the most important decisions, if not the most important decision, in life. Parents-to-be often question whether they are financially and emotionally ready for a baby, especially if their baby may have special needs.
For couples who are considering starting a family, St. John’s obstetrician/gynecologists recently began offering cystic fibrosis carrier testing as part of the preconception planning process. CF is an inherited disorder that affects breathing and digestion by causing mucus to build up in the lungs, pancreas and other organs. It has no cure, and most people with CF have a shortened life span.

For the most part, only pregnant women with a family history of CF have been offered carrier screening in the past, but the American College of Medical Genetics (ACMG) recommended last year that all Caucasians, not just those with a family history, should be offered the test. Members of other racial groups are less likely to be carriers.
“On average, about one baby with CF is born at St. John’s each year,” says St. John’s Maternal-Fetal Medicine Center’s Robert Fraser, M.D. Perinatologists, or maternal-fetal medicine specialists, care for women with high-risk pregnancies. “The CF carrier testing is simply another test we offer to provide as much information as possible to couples who are in the family-planning stage.”

If both spouses are found to be carriers of the CF gene, their children will have a 25 percent chance of having cystic fibrosis and a 50 percent chance of being carriers of the gene like their parents. If both spouses are carriers and the couple is already expecting, an amniocentesis can be performed to determine if the fetus has the disorder. Parents can educate themselves and their families, and perhaps even line up care, if they find out their baby has cystic fibrosis.

Cara Domann, 40, of Springfield and her husband Kyle opted for the cystic fibrosis carrier testing even though she was already pregnant with her third child. Neither of them are carriers of the CF gene.
“I had never had any type of prenatal testing before,” Domann says. “We were already doing some prenatal testing at St. John’s Maternal-Fetal Medicine Center because I’m considered high risk with this pregnancy because of my age. Dr. Fraser offered us the cystic fibrosis test in addition to the other tests, and my husband and I both rolled up our sleeves for the blood test right then and there. We took advantage of it because we know CF is a serious disease and we wanted to know if we were carriers, both for our new baby and for our other children.”

Prenatal Screenings

In addition to the cystic fibrosis carrier testing, St. John’s Maternal-Fetal Medicine Center also offers first-trimester prenatal screenings to pregnant women who are considered at risk for complications, such as those who are 35 or older, those who have a history of diabetes, heart disease or hypertension, those who are carrying their fifth child and those who are older than 30 and are carrying their first child.

The first-trimester screening, which is a combination of an early ultrasound exam and a blood test, identifies women who may have an increased risk of having a fetus with certain chromosomal abnormalities, such as Down syndrome or heart defects.For 36-year-old Belinda Mercer of Springfield, A first trimester prenatal screening helped calm some of her worries about having her third child.
“I think it just put my mind at ease. If there was a problem, my husband and I would be able to prepare for it,” she says. “Having the test didn’t mean I would do anything different with my pregnancy except be prepared and more knowledgeable.”