Factoring in genetic counseling

WEST TOLEDO - Couples thinking of having a baby want to do everything they can to make sure they have a healthy child, and that could include something like seeing a genetic counselor to talk about possible health risks.

Genetic counseling can help patients who have a family history of a certain genetic disease. Couples can then choose to have additional screening and testing done to see what the risk is of passing that condition on to their child.

"A lot of patients see a certain risk as being worse than maybe another patient might see, so really it depends on what the patient wants to know, and how much information they need to make the best decisions with their pregnancy," said Stephanie Cape, genetic counselor.

"The most common disorder in the Caucasian population is cystic fibrosis, which is known as an Autosomal Recessive Disease, which means both parents have to carry a gene mutation in order to have a child with the disorder," Cape added.

If parents are carriers, Cape says the next step is to see a genetic counselor to discuss additional testing that can be done pre-natally to see whether or not the baby has inherited the disease.

"Within the African American population the most common disorder is sickle-cell disease," she said.

Another common disorder is Fragile X Syndrome.

"It's the most common form of mental retardation and usually affects males," Cape said. "It's been linked to autism. That's a disease passed down through the mother."

An expectant mother can go through two different types of testing if she chooses - either a screening test which is done during the first trimester and there is no risk to the baby, or a diagnostic.

"In terms of diagnostic tests, the two that are available are Chorionic villus sampling in the first trimester, and Amniocentesis in the second trimester. What a diagnostic test can do is it looks specifically at the baby's chromosomes."

With the diagnostic test you're trading in a slight risk for miscarriage.

"Those families who think that pre-natal diagnosis is only for the purpose of not continuing the pregnancy is incorrect," said Dr. Shiraz Sunderji, MD of maternal-fetal medicine.