By Kishore Vellody, Medical Director, Down Syndrome Center of Western Pennsylvania, Children’s Hospital of Pittsburgh of UPMC
On July 18, 2014, a Pennsylvania law was signed by Gov. Tom Corbett requiring that a mother who receives a prenatal diagnosis of Down syndrome be given information about the condition. As medical director of the Down Syndrome Center of Western Pennsylvania, but even more importantly as a sibling to someone who has Down syndrome (Ds), I think the passage of the Down Syndrome Prenatal Education Act, also known as Chloe’s Law, is an important first step toward providing accurate prenatal information about Ds to parents.
Down syndrome (Ds) is the most common genetic condition resulting in intellectual disability. It results when a person has an extra chromosome 21. The Centers for Disease Control and Prevention estimates that 1 in 691 live-born infants in the United States are born with Ds. Children with Ds have an increased chance of medical issues, but, with appropriate medical attention, the vast majority will live healthy and fulfilling lives.
Prior to the advent of genetic testing, infants with Ds could only be diagnosed after the baby was born. Over the past several decades, it has become possible to prenatally diagnose Ds. Until very recently, this would involve sending three to four blood tests on the mother and obtaining an ultrasound on the fetus. With this combination of tests, statistical ratios could estimate what the chances of the baby having Ds would be. If there was a strong likelihood of the baby having Ds, the mother would be offered more invasive testing like amniocentesis or chorionic villus sampling to know definitively if the baby had Ds. This testing carries with it a small chance of miscarriage. Given the invasive testing required for a definitive diagnosis, more than 80 percent of babies born with Ds are diagnosed with the condition after they are born.
Within the past couple of years, a new method using noninvasive prenatal testing (NIPT) called “cell-free fetal DNA analysis” has become available. This testing is able to detect the extra chromosome 21 from the fetus with more than 99 percent accuracy just from checking the mother’s blood. This testing can be done in the first trimester of pregnancy. This is undoubtedly a scientific breakthrough, but it raises some new challenges. Given the relative ease of testing, far more women will get prenatal diagnoses of Ds than ever before. Accurate information must be available readily regarding what Ds means for somebody today. If the person giving the diagnosis is not current in their understanding of Ds, he or she could provide incorrect information to the family. I have found that this happens far too often.
Published data show that when mothers are surveyed after receiving the diagnosis of Ds, they frequently feel that the information they receive is outdated and inaccurate. As such, they are unable to make an informed decision about how to proceed with the pregnancy. Therefore, I applaud the Pennsylvania legislature for passing “Chloe’s Law” in an overwhelmingly bipartisan fashion. We need that type of unified stance over accurate information sharing not only within government but in medicine as well. Parents receiving a prenatal diagnosis deserve up-to-date and accurate information about Ds from their medical providers. Through our work at the Down Syndrome Center, we have been personally involved in prenatal discussions with local families so that we can share accurate, up-to-date information about Ds. However, we only reach local families in this way; there are many regions all throughout Pennsylvania that do not have easy access to a Down Syndrome Center. The requirements of Chloe’s Law should increase the access to accurate information on Ds for parents throughout the state.
For more information about the Down Syndrome Center of Western Pennsylvania, please visit www.chp.edu/downsyndrome. You can also download our audio podcasts on iTunes. Visit www.chp.edu/dscpodcast to learn more.
For more information on Down syndrome, visit the following websites: