Down Syndrome Is Most Common In Women Under 35, But Why?

Rather than doing an amniocentesis, a procedure that uses amniotic fluid to definitively diagnose Down syndrome that carries with it a risk of pregnancy loss, Bergschneider opted for two of the available screening tests, a quad screen and a cell free DNA test, the results of which were both positive. They gave her, according to her doctors, a 99 percent chance that her baby did in fact have Down syndrome.

Bergschneider says, “It’s crazy to me, with Down syndrome being the most common genetic condition, that doctors aren’t trained on delivering a diagnosis better.” Unfortunately, her experience isn’t unusual. There have been a number of stories showing the distinct lack of sensitivity in delivering news of Down syndrome diagnoses. An Op-Ed in the New York Times that made the rounds this time last year, titled “Does Down Syndrome Justify Abortion?,” a pro-choice family shared their surprise at how such diagnoses were given.

When asked what Bergschnedier wishes the doctor had said to her, she tells me:

After her son Joseph’s birth, she met with a geneticist who explained, in her words, “that Joseph did have Down syndrome, but that [didn’t] mean he [was] unhealthy or that anything [was] wrong with him. [It] just [meant] that he would do things on his own time. He did tell us the health conditions that came along with [Down syndrome] but said that we would address them each as the time came. The way he told us, it seemed that he would be more like [everyone else] than different. And he is.”

It’s experiences like 21 year-old Bergschneider’s that have the American College of Obstetricians and Gynecologists (ACOG), as of March 1, 2016, recommending offering the non-invasive prenatal screening blood tests and ultrasounds for all pregnant women, regardless of age or other risk factors. Then more invasive diagnostic testing is offered if the screening tests show an increased risk. Her experience is also why Michelle Sie Whitten of Global Down Syndrome Foundation does work with trying to educate families about Down syndrome diagnoses.

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