TIME MAGAZINE Article regarding Down Syndrome

Last night, I paid for a subscription to TIME MAGAZINE so I could read the article contained therein.  The article is entitled "Early Decision."  It was written by Bonnie Rochman.  As to not infringe on copyrighted material, I have summarized the article briefly here.

"Early Decision" chronicles a 40 yr old woman who makes the decision to have amniocentesis to determine whether or not her unborn child has Down Syndrome.  Like Carl and I, her age brought the statistical likelihood to 1:100.  Additional factors increased the probability to 1:5 for her, 1:3 for us.  Within a few days, she received the news (as did we).  The unborn child has Trisomy 21.

The article describes how, upon learning the news, she left her half-full grocery cart, returned home, pulled down the shades, crawled into bed, and wept.  It was a little different for us.  The day we had the amnio, I did come home and take a nap.  I was stressed.  The test has made me nervous.  I just desperately needed rest.  By the time we received the confirmation call, Carl & I were relieved.  There were so many other chromosomal abnormalities that it could have been; Down Syndrome was the least of them. 

The article goes on to say that 1 in every 691 babies born in the U.S. has DS.  400,000 people in the country have DS.  It suggests the number would be higher if not for prenatal tests.  Pregnancies, where an early prenatal diagnosis of DS is determined, 90% result in abortion.  Will a new test increase that number?

New breakthroughs in prenatal technology (blood tests for DS and other chromosomal disorders) are in the works.  One, called Sequenom, can be administered as early as 10 weeks gestation.  Current tests, generally, are not carried out until at least week 15.  Current tests also carry a small risk of miscarriage; a blood test would not.  This new blood test accurately identifies 98.6% of DS pregnancies.  Some are calling it a "major step for prenatal diagnosis."

The concern is this: New prenatal screening may continue to reduce the size of the DS population.  50% of all babies born with DS have congenital heart defects.  Although new surgical techniques have made repair relatively routine, will policy makers decide that 'eradicating' the 'problem' is more cost effective?  Will earlier screenings lead to an increased number of terminated pregnancies?  "Now is the time to have kids with Down syndrome," says Amy Julia Becker, author of A Good and Perfect Gift, about life with her daughter Penny, 6, who has Down syndrome. "It is ironic that [earlier screening] is happening at a time when it's easier to have Down syndrome than ever before."

The new screening means that parents will no longer have to wait for a second-trimester ultrasound to learn the sex of their child; "early blood tests can now reveal that and much more. A single new genetic test can screen for nearly 600 mutations. If it's O.K. to eliminate people with Down syndrome, is it also O.K. to end a pregnancy in which the fetus has a terminal diagnosis like Tay-Sachs disease? How about a cleft palate, which can be surgically corrected? And what about deciding the fate of a baby who has a breast-cancer gene? Selective abortion of female fetuses in China and India is chillingly commonplace. And putting aside the existential debate over abortion, what does it mean for a society to weed out children with Down syndrome or any of the other less than perfect among us?"

Carl and I were happy to receive the early diagnosis.  One, done 8 weeks sooner, would not have changed our course.  We were going to welcome Josiah into our family, regardless of DS.  The early diagnosis allowed us extra time to prepare mentally, research, and prepare to put services into place.  How many other women will make a different choice based on an earlier screening?  That seems to be the concern.

According to the article, parents and professionals are afraid that more terminations may lead to a reduction of services for babies with Down syndrome.  The gains of the past 40 yrs may be lost.  Children with DS may return to institutions, and not be mainstreamed as they are now.  "That would be bad under any circumstances, but it would be particularly cruel if it happened now, just at the point that the achievements--and the acceptance--of people with Down syndrome have been soaring."