Let's examine your genes

By Ask the OB/GYN  |  11/2/2015

You are excited about the prospects of having a baby. Cute, warm and cuddly. Although there seems to be so much to learn, a parent’s main concern is “will my baby be healthy?”

According to Dr. Donna Kasello, “We use cutting edge technology in terms of testing during pregnancy. Some of this is so new that the literature has not quite caught up yet.”

Dr. Kasello is a woman in the know. Not only is she a mother of three, but she is a board certified obstetrician and gynecologist at Health Quest Medical Practice.

In the past, testing a fetus for Down Syndrome and other genetic disorders required amniocentesis, a procedure where a needle is inserted in the uterus to remove fluid for testing. The procedure came with many risks, including miscarriage.

Instead of an invasive procedure at 15 to 20 weeks of pregnancy, doctors can now conduct a genetic screening of the mother’s blood as early as 10 weeks with a standard blood draw.

When a pregnant mom first visits one of the four Health Quest Medical Practice offices, they meet with the nurse and one of the doctors to review their case history and determine if there are any risk factors.

"During the first trimester all women are offered screening for chromosomal abnormalities We do a blood test and an ultrasound to check the skin thickness at the back of the baby's neck, which is known as a Nuchal Translucency,” says Dr. Kasello.“ Originally chromosomal screening was mostly a concern for women over 35, but now it’s offered to all women.

“With a 95% screening accuracy, these initial tests provide reliable information that helps us advise pregnant moms regarding their health, without creating unnecessary stress or anxiety.”

When the tests reveal any abnormalities, the mom is referred to a genetic counselor as well as a perinatologist. If it is deemed necessary, fetal DNA testing is ordered by the genetic counselor. “This is where the cutting edge technology is,” says Dr. Kasello. “We are now able to determine chromosomal abnormalities of the fetus from fetal DNA within the mother’s blood. This will significantly reduce the risk of needing an amniocentesis.” All these services are provided through the Health Quest medical system.

“At Health Quest, genetic testing is automatically offered to all pregnant women who are giving birth at 35 and older, which is defined as advanced maternal age,” says Dr. Kasello. “This is the largest population of women becoming pregnant. I see women over 40 having babies. And most have very good outcomes.”