All expectant parents hope for a healthy happy baby, but in some situations everything doesn't go as planned. Avera Women's offers genetic counseling to help couples understand their risk of having a baby with chromosome abnormalities.
Like every set of new parents Marla Shaw and Lindsey Chasing Horse of Sioux Falls are all-a-glow at the site of their newborn baby girl, but unlike every set of new parents, these two new exactly what to expect when Ellah was born. Thanks to genetic counseling and testing with their Perinatologist Dr. Maria Palmquist at Avera McKennan, Marla and Lindsey found out a head of time that Ellah has Down Syndrome.
Marla says, "It prepared us. It gave us direction. It was really chaotic and scary when they first told me and I was confused because I didn't know anyone with down syndrome and I didn't know anyone who had a down syndrome baby and you don't realize how many people do have it and the programs offered to help you deal with it. They just really helped prepare me."
Marla had the Quad Screen which is done in the 2nd trimester. The American College of Obstetrics and Gynecology recommends all expectant moms get screened and the earlier the better. Dr. Palmquist says the testing done in the first trimester is more accurate.
Dr. Palmquist explains, "The screening done in the first trimester involves a combination of maternal blood work and ultrasound. It looks for the presence of a nasal bone on the baby and nuchcal translucency measurement which measures the thickness behind the baby's neck. Once the blood work goes to the lab, we put the measurements intro a program and it kicks back some numbers. Now, this doesn't tell if the fetus has any abnormality, but it tells the mom what we think the risk is. From that point they would probably elect to have diagnostic testing where we get a sample part of the placenta and then you know for sure was the genetic make up of the pregnancy is. That's called a CVS or Chorionic Villus Sampling."
Dr. Palmquist says most moms turn down screening because they say it wouldn't change how they carry out their pregnancy. For Marla the outcome wouldn't have changed, but the way they were prepared for a special needs baby certainly did and for that they are grateful.
Further tests are also available when family history indicates an increased risk for less common genetic conditions.