A new prenatal blood test for Down syndrome is being developed that will enable expectant mothers to find out their baby’s Down syndrome risk earlier and more safely than ever before.
Down Syndrome Abortions Prevalent
Previously, a Down syndrome diagnosis had to be made with amniocentesis, an invasive and expensive procedure that could result in harm to the developing fetus. Many American women, especially those under 35, elected not to have the test done for this reason. Of those who did, estimates are that roughly 80 percent of those who found out their child would have Down syndrome elected to terminate the pregnancy.
Down syndrome is a genetic alteration that occurs when an individual has three, rather than two, copies of the 21st chromosome. The most common chromosomal condition, Down syndrome occurs in one out of every 733 babies born in the U.S.
Down Syndrome Risk Changes with Age
The likelihood of having such a child increases drastically as a woman gets older. At age 20, there is a one in 2,000 chance of having a baby with Down syndrome. By age 35, that has increased to one in 350, and at age 49 it is one in 10. However, most babies born with Down syndrome in the U.S. are to mothers under 35 who are unaware of their child's condition until it is born.
Life expectancy for a child with Down syndrome has increased dramatically with the advent of antibiotics and heart surgery: from age 9 in 1910, to the age of 25 in 1983, and to age 60 today. However, many physical complications are associated with the condition, including heart disease, Alzheimer’s and an increased likelihood of leukemia.
Individuals with Down syndrome also have mild to severe intellectual disability. But these children can largely be mainstreamed into public schools, and some are able to hold jobs.
Down Syndrome Negative Bias
A 2000 study found that nearly 25% of physicians who explain prenatal test results put a negative spin on a finding of Down syndrome, or actively encourage the parents to terminate the pregnancy. Furthermore, a 2005 survey of mothers with Down syndrome children uncovered a similar bias within the healthcare community when such a child was born.
Mothers reported their obstetrician telling them that they had “awful” news, or commenting about a newborn that “this could have been prevented … at an earlier stage.” In reality, a child with Down syndrome usually has only mild to moderate cognitive delays, and can make many positive contributions to society.
It may largely be a problem with how doctors in the U.S. are trained. Fully 45 percent of obstetric fellows report that their instruction on how to deliver a prenatal diagnosis is “barely adequate” or “nonexistent.” And 81 percent of medical students say they’re not getting any clinical training in how to talk with people who have intellectual disabilities.
Moms of Children with Disabilities Make Suggestions
Mothers of children with disabilities said they wanted doctors to do three things:
1. Don’t start out the conversation by saying, “Unfortunately, I have some bad news.”
2. Tell prospective parents about the range of possibilities for children with Down syndrome, including success stories, as well as some of the difficulties.
3. Give parents contacts for local support groups.
