Should I get genetic testing?
Kathleen Kuhlman, MD, is medical director of the Maternal Fetal Medicine Center at Banner Thunderbird Medical Center in Glendale, Ariz.. Her office can be reached at (602) 865-4200.
Question: I’m 36 and newly pregnant. Are there any genetic tests I should have to prepare for this baby?
Answer: Pregnant women are offered health screenings to check for conditions ranging from gestational diabetes to chromosome abnormalities. However, some may choose additional prenatal genetic screening to check for other serious diseases and disorders based on factors like age, ethnicity and family history.
Women who are pregnant or thinking about becoming pregnant, should talk to family members – theirs and the baby’s father’s – to learn about heritage and family history of inherited conditions like Fragile X syndrome, the most common form of inherited mental retardation. If a relative has mental retardation, screening can help identify whether you are a carrier.
Other screenings, some that can be performed before pregnancy, can identify carriers for many devastating diseases. The lung disease cystic fibrosis is most common among Caucasians with one in 25 being a carrier. African Americans have the highest risk for sickle cell disease, an inherited and very serious blood disease. While it’s widely known that many African Americans are carriers for sickle cell disease, few people are aware of the increased risk Hispanics face.
Individuals of Jewish descent, including Ashkenazi Jews and Jewish French Canadians, are at risk of inheriting very specific genetic diseases. Tay-Sachs and Canavan disease, two progressive neurological diseases, and familial dysautonomia, a nervous system dysfunction, are the most prevalent, devastating and often lethal diseases confronting those of Jewish heritage.
During pregnancy, women 35 and older are typically offered diagnostic tests such as CVS or amniocentesis to check for chromosomal abnormalities. However, many women are now choosing the latest noninvasive screening to check for chromosomal abnormalities. Known as the first trimester screen, it involves a blood test and ultrasound to measure the skin thickness of the fetal neck at 11 to 13 weeks gestation. This test can detect up to 90 percent of fetuses at an increased risk for Down syndrome. The test, which is now offered to pregnant women of all ages, allows for earlier testing than the second trimester blood test.
Prenatal genetic screening is not necessary for the mother’s health; therefore, it is optional. Your circumstances, views on life and plans on how you’ll use the information can help determine what, if any, genetic tests are right for you.