Down Syndrome Test

A new Down syndrome test may help ease the fears of pregnant women about Down syndrome and other genetic disorders. It's actually two tests, one at-home and another at the woman's doctor's office. The key is that the new Down syndrome test can be done sooner than ever before.

36-years old and pregnant with her first child, Victoria Torres found herself a little nervous about the tests usually given older mothers during their pregnancies. "Because of my age she suggested we take this test, the instant risk assessment, because I was very wary of the amnio." says Victoria. Torres' fears are shared by millions of women over the age of 35—when the chances of having a baby with a genetic disorder like Down syndrome increase. "At 36 years old you get very nervous because you are told that there is a very high likelihood that your child might suffer from Down syndrome." states Victoria.

Over the last quarter century, doctors have gotten better at predicting which babies will be born with Down syndrome. But women have to wait between 16 and 18 weeks into their pregnancy, to have the gold standard test a triple or quadruple blood screen. Dr. Natan Haratz, a prenatal specialist at Long Island College Hospital says, "It will give you about a 75% potential rate for Down Syndrome with about a 5% false-positive rate." If the Down syndrome test result is positive, a woman can then decide if she'd like to have the more definitive amniocentesis procedure. Now, a new Down syndrome test called the IRA or "instant risk assessment" is moving this timeframe back more than a month. "What you are gaining is time. You can have your Down syndrome test privately at home. You can come to the doctor's office. You can have your result and you can get counseled before anybody even knows you're pregnant." says Dr. Haratz. Victoria says, "It was so nice because you can do it so early in your pregnancy. I probably would have worried a whole lot."

The Down syndrome test itself is a simple blood draw done at home with a prick during the 9th week of pregnancy. The blood drops are placed on a special card and sent to a lab. The results are combined with measurements of the fetus during an ultrasound two weeks later. Early diagnosis though is not the only advantage. Dr. Natan Haratz of Long Island College Hospital has been ordering the test for his patients and says it's more accurate and should be offered to every pregnant woman. "Screening only mothers over 35-years of age will miss 70% of the cases. We're steering away from age as the sole determining factor for diagnostic tests." Earlier and more accurate are two powerful factors Dr. Haratz says women should consider. "If you want to do anything about the pregnancy, you have privacy. You have all the options available to you. You have the power of information early in the pregnancy." says Dr. Haratz. It can be done by a woman in her home as early as 9-weeks, and followed up with a sonogram at 11 weeks. This translates into answers for the woman and her partner about their baby, about 5-weeks earlier than usual. Victoria's fears melted away with a negative test result. She eagerly awaits the arrival of a baby boy in August. The Down syndrome test is widely available. Women can simply ask their doctors if they offer the IRA the instant risk assessment test.

For more information on Down syndrome, Click here.

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