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New Push For Early Down Syndrome Screening Causes Debate

By Pamela Jean     Aug 1, 2007 in Health
Currently most pregnant women receive their first ultrasound sometime in the second trimester. A recent decision by the American College of Obstetricians and Gynecologists may change that. Parents are being urged to screen for Down Syndrome.
An ultrasound is now being recommended in the first trimester, generally sometime during the 11th to 13th week. This, combined with a blood test, is being touted as a good predictor as to whether the fetus you are carrying will suffer from Down Syndrome. Although these tests do not positively identify whether or not the child you're carrying will suffer from the genetic disorder, it is being reported as a good indicator. Earlier this year, the American College of Obstetricians and Gynecologists advised doctors to start offering Down Syndrome screening to all pregnant women. Proponents feel that it will allow parents to decide early on whether or not they are equipped, or prepared, to raise a handicapped child.
The early screening test itself however, has also been shown to result in "false positives", with statistics indicating that 1 in 20 women will look as if they are carrying a Down Syndrome baby, when in fact they are not. Studies also indicate that the resulting positive diagnosis has resulted in 90% of the fetuses identified being aborted. Even if the results indicate the child has Down Syndrome, additional testing is necessary in the 2nd trimester to confirm. "It doesn't tell them that they're baby has Downs or not," said Dr. Andrea Flom. "In order to find out that information, they would need to go on to do the next test."
Down syndrome is one of the most common genetic birth defects, affecting about 1 in 800 babies. According to the National Down Syndrome Society, there are approximately 350,000 individuals with Down syndrome in the United States.
Ella's father, Ryan Blom, recalls the testing that led to their prenatal diagnosis.
"We went from one in 300 to one in 66, to all of a sudden -- boom -- our daughter had Down syndrome," he said.
"They have several markers they look for," said Carrie Blom. "And in our ultrasound, we found out that our daughter had four or five of those markers."
"Obviously it's something that we didn't want," said Ryan Blom. "But now that we've had our daughter, I wouldn't trade her for anything."
The effects of Down Syndrome, which is caused by the child having an extra 21st chromosome, vary greatly. The children have distinct facial features, including almond shaped eyes and a protruding tongue. They also have shorter limbs, a single crease as opposed to a double crease in their palms, and are more prone to various illnesses such as congenital heart defects, gastroesophageal reflux disease, recurrent ear infections, obstructive sleep apnea, and thyroid dysfunctions.
As far as how a Down Syndrome child is affected mentally, the range is vast. It is possible for the child to suffer only mild cognitive effects to severe mental retardation, though the episodes of the severe are rare. Most suffer from diminished "concrete" thinking, combined with a certain level of naivete.
Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. Although some of the physical genetic limitations of Down syndrome cannot be overcome, education and proper care will improve quality of life.
Kathleen Forney, Executive Director of the Down Syndrome Association of Minnesota, is concerned about the early screening now being encouraged across the country. The effects of such screening will no doubt result in a diminishing number of children being born with the syndrome.
"Y'know, 'they'll never read, they'll never walk, they'll never leave you,'" said Forney. "You don't project for a child that doesn't have a disability. You shouldn't project for a child that has Down syndrome because you don't know."
Mrs. Forney is the parent of a Down Syndrome child herself. When he was born, she and her husband were surprised, but took it in stride. She felt that that her son, David, would more than likely always be by her side. David, now 28, had other plans. He currently resides in his own apartment and has a part time job with a legal firm. He is living an independent and productive life - on his own.
Carrie and Ryan Blom, whom opted to carry their daughter Ella to term are hopeful that she will grow to be productive and independent just like David.
"That's our hope for Ella, too, that she can have as normal a life as possible," said Carrie Blom. For now, Ella fits in with everyone else.
"She's just one of the kids. She's a big girl," said Carrie Blom.
They run a support group for other parents of Down Syndrome children. Having met so many other parents has given them a different view of raising these kids. No one sits around crying and feeling sorry for themselves. It's not like that, she says.
The Bloms worry that now, with the advent of this new screening process, there will be fewer and fewer kids like Ella.
"The numbers will dwindle and dwindle," said Carrie Blom. "And those parents won't have the support that we do now."
Their advice for expectant parents facing a Down syndrome diagnosis is to call the association and meet people who know what it's really like.
"Come meet our kids and see that they're not a burden," said Carrie Blom. "It's a whole lot of fun."
So, what do you think? Is this prescreening for Down Syndrome a good thing, or will it just result in more and more abortions being performed?
I have two personal friends with Down Syndrome children. They love their children dearly, and would never, ever wish they had not been given life to these special kids.
Where do you stand? If offered this prescreening, would you say yes, or no?
More about Downs syndrome, Screening, Controversial