Fetal Testing for Down Syndrome

I will preface this blog post with the fact that my cousin's daughter was born with Down Syndrome, Trisomy 13 to be exact. Yet she is such a joy at four years old! Anyone who has not spent time with a child, or adult, with Down Syndrome... and I mean really spent time with them... has not experienced the joy of innocence, simple happiness that these precious people can bring to your life.

I November, the Washington Post reported on a first trimester screening test for Down Syndrome. Stein reported, "The eagerly awaited study of more than 38,000 U.S. women -- the largest ever conducted -- found that the screening method, which combines a blood test with an ultrasound exam, can pinpoint many fetuses with the common genetic disorder 11 weeks after conception." Fergal D. Malone of the Royal College of Surgeons in Dublin, who led the study published in the Nov. issue of the New England Journal of Medicine, found that 87 percent of Down babies were identified using this earlier method. Wow, that leaves an unlucky 13% with a false positive rate.

Now in a perfect world, this would simply provide parents with additional time to come to terms with their child having Downs Syndrome and prepare accordingly for his or her birth and life. Sadly, this very likely will not be the case. CNSNews reported in April on a Grey Journal study showed, “that many pregnant women receive only negative information from medical professionals when a prenatal diagnosis reveals a potential for giving birth to a baby with Down syndrome.” It went on to explain, “Pro-life groups blame what they call the "culture of death" for the legal system that upheld… abortions on unborn babies thought to have Down syndrome and other birth defects.” This it will be no surprise that, “in recent years, studies have shown the abortion rate of Down syndrome babies is estimated at 80 to 90 percent when prenatal screening reveals the possibility or probability for the condition.” Folks, that is 8 or 9 out of every 10 babies who have been diagnosed, accurately or not, with Down Syndrome.

With that in mind, let me close with a true story. Two of my cousins (sister and brother’s wife) were pregnant at the same time, both had at least three ultrasounds. One was told her baby had downs syndrome and was strongly counseled to abort her baby (they chose not to). The other was told her baby was perfectly healthy. The first cousin's son was perfectly healthy and the second cousin's daughter has downs syndrome… the very cousin I prefaced this post with. Now, if my cousin who had been counseled to abort would have, we would have lost a healthy, normal baby boy and his parents would have suffered the grief of that decision their entire lives.