Success story: couple gets an unexpected gift from a DNA test

“Without Counsyl we’d have had no clue there might be a problem.” -Joe

Jennifer and Joe met on the softball field after he took note of the way she played. “She had a really strong throwing arm,” he says. They fell in love quickly and soon married. In addition to a shared appreciation for a good ball game, they discovered they both wanted lots of kids.

Before becoming pregnant, Jennifer, who works as a nurse, requested the Family Prep Screen by Counsyl, which screens for more than 100 hereditary diseases. Two weeks after Jennifer and Joe had taken the test, they got surprising results. What they learned is that they have a one in four chance of giving birth to a child with Smith-Lemli-Opitz Syndrome (SLO), a rare disease often associated with mild to severe intellectual disabilities, heart defects, and kidney problems. “When we first saw the results we got this feeling of doom,” says Jennifer. “We thought, what are we going to do now?”

It turns out there’s a lot you can do when you get information like this before becoming pregnant.

Along with their physician, Jennifer and Joe decided to pursue in vitro fertilization (IVF) and test the embryos for SLO. The IVF was successful and in July 2013 they welcomed Kinley, a healthy little girl.

Both agree that without the Family Prep Screen they’d have had no idea they were at risk for SLO. “It’s great to cure something,” says Jennifer. “But if you can prevent something before anyone has to experience any pain and suffering that’s just worth so much more.”

The Family Prep Screen is a DNA test that screens for more than 100 inherited diseases. Prescribed by more than 15,000 medical professionals, it’s low-cost, easy to take, and can give your baby a head-start on a healthy life.

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