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New Down Syndrome Test May Diagnose At Nine Weeks In Utero, Is It A Good Thing?

 down syndrome, new screening test down syndrome, genetic prenatal testing, pregnancy screening tests, down syndrome blood test,

A handsome, happy little boy who has Down syndrome

At the beginning of this year, we covered news that a new screening test for Down syndrome was on the horizon in Hong Kong. Now researchers are working on the new non-invasive test and they hope it will be available in the United States by next year.

Typically, if pregnant women want to know if their baby is at risk for the disease, they must undergo an amniocentesis which is a needle that is placed into the amniotic sac in order to extract amniotic fluid. This can only be performed at close to four months gestation or later. CVS, or chorionic villus sampling is another screening test that be done to detect the risk of Down syndrome. This test, also invasive, collects a bit of tissue from the placenta. Both pose a very small but real chance for miscarriage, and experts say that highly skilled practitioners are necessary but not always available in all hospitals and medical centers.

Researchers are now saying that within one year’s time, a simple blood test may be available that offers the same accurate results as early as nine weeks into the pregnancy. A test such as this would spare many women the need for an amnio or CVS by retrieving fetal DNA from the mother’s bloodstream.

A breakthrough such as this would let women know if they were carrying a fetus that tested for Down syndrome before the pregnancy is obvious to others and before the fetus grew large enough to be felt by the mother. It could make abortion in the cases of Down syndrome more likely. Some say women haven’t bonded that much at nine weeks and some might not even have told their husband so abortion may be an easier decision. Today, most cases are diagnosed after birth now, but with this new blood test, it could become a prenatal event.

Down syndrome slows mental and physical development. People with Down syndrome usually show mild to moderate disability in intellect and skills for everyday living. Physically, they often have a flat face with a short neck and smaller hands and feet. They have a higher risk for complications such as heart defects and hearing problems, and life expectancy is roughly 60 years.

The decision to keep a pregnancy in the case of Down syndrome is a personal one. When it was offered to me, I declined it because I knew that no matter what, my baby was with me for the long haul. I told my midwife that the results wouldn’t matter because I was having my baby anyway. Had he been born with Down syndrome, I wouldn’t have regretted having him. I know kids and adults, beautiful human beings, who are living with Down syndrome and have very full, engaged lives.

An Associated Press article reports that Dr. Brian Skotko, a Down syndrome specialist at Children’s Hospital Boston who has written a research paper for doctors on how to deliver a diagnosis, said “the vast majority of people with Down syndrome and families affirm that their contributions to their communities are significant, and their lives are very valuable.

Erin Witkowski of Port Jervis, N.Y had an amniocentesis that was showed her baby would have Down syndrome. She says when her doctor started talking immediately about abortion, she changed doctors and gave birth to Grady in February 2010.

“When they first gave him to me,” Witkowski said, “I saw tiny little hands, and he had the most beautiful eyes… He didn’t have `Down syndrome’ stamped on his forehead. He cried and he peed and he pooped. He was a baby.”

One great benefit from a new earlier screening test, is that it would also give moms more time to come to terms with the diagnosis and seek support. There are many groups and associations that help families affected by the disease.

Did you have the typical prenatal screenings? Would a positive diagnosis have changed your mind about continuing your pregnancy?

Babble Quick Guide to Newborn Vaccinations: HepB, MMR and more!

Read Danielle’s blog Just Write Mom.

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