Named after John Langdon Down, the first physician to identify the syndrome, it is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems. It occurs in one out of 800 live births, in all races and economic groups. It is a chromosomal disorder caused by an error in cell division that results in the presence of an extra chromosome-- a third chromosome 21 or "trisomy 21." When the egg and sperm unite to form the fertilized egg, three-rather than two chromosomes 21 are present. Down syndrome is not attributable to any behavioral activity of the parents or environmental factors. The incidence of Down syndrome rises with increasing maternal age. The likelihood that a woman under 30 who becomes pregnant will have a baby with the syndrome is less than 1 in 1,000, but it rises to 1 in 400 for women who become pregnant at age 35. By age 42, the chance is 1 in 60 and by age 49, the chance is 1 in 12. But using maternal age alone with not detect over 75 percent of pregnancies that will result in Down syndrome.

The tissue is tested for the presence of extra material from an extra .chromosome 21. A "normal" baby has two chromosomes 21--one from the mother and one from the father. A third one, called "Trisomy 21" indicates Down syndrome.

Prenatal screening is available. There is a relatively simple, noninvasive screening test that examines a drop of the mother's blood to determine if there is an increased likelihood for Down syndrome. The blood test measures the levels of three (tri) or four (quadruple) markers for the syndrome.

According to Dr. Singh, has several advantages, including increased accuracy, earlier testing and the reduction of the need for invasive tests, which are costly and have risk. "These invasive procedures can sometimes interrupt a normal pregnancy."

This new test uses both an ultrasound of the fluid in the skin at the back of the baby's neck, and a few drops of blood from the mother's finger, combined with the maternal age to assess the overall risk. To get a more definitive answer, a diagnostic test would be required.

"I thought my world had ended," she said, recounting the moment she found out that her baby, still five months from birth, had Down syndrome. "I wasn't sure we were the right parents. I called some adoption agencies, and then I found out the list of people wanting to adopt children with Down syndrome was very long. People really wanted these kids. Then I wondered what was wrong with me."

More parents soon will face the same complex decisions but now even earlier -- just 11 weeks into pregnancy. A new test, partly studied at Beaumont Hospital in Royal Oak and recently outlined in the New England Journal of Medicine, is hailed as a less expensive, more accurate and less invasive way to determine whether a child has Down syndrome.

But earlier detection is stoking an ethics debate among those who fear it's another opportunity for abortion and a step closer to genetic engineering, where only perfect babies are selected to survive.

"There's no sense in having the test if they're not thinking of terminating the pregnancy," said Dr. Christine Comstock, director of fetal imaging at Beaumont Hospital and the principal site investigator on the study. "But it also provides women with early accurate information they need if they do decide to keep the baby."

Today, Spencer, 44, of Warren, says her daughter Lexi loves Barney, the Wiggles and Baby Einstein. She also eats all her oatmeal and is adapting to potty training.

About 90 percent of women who receive a positive test for Down syndrome get an abortion, said Dr. Ray Bahado-Singh of Wayne State University's Department of Maternal Fetal Medicine. The syndrome is the most frequent genetic cause of mental retardation, one that is more likely when women bear children later in life.

"The principal purpose of screening is precise prediction of disease," Singh said. "Ideally, screening should allow us to identify issues early enough so intervention can be performed."

Singh said screening gives prospective parents reassurance, means fewer miscarriages through invasive procedures and allows parents to be prepared psychologically.

"Women who continue the pregnancy after a diagnosis of Down syndrome now have the knowledge of what they'll be faced with," she said. "It's not just about termination. Some women even go to support groups for parents of children with Down syndrome before the birth after getting the diagnosis, to prepare them after the baby is born."

Helen Hicks gazes at her 8-month old son and sees a gift. He is her miracle baby. She married late the second time and, at 48, learned she was pregnant.

The premature baby, weighing 2 pounds, 12 ounces at birth, spent months on life support. But little Anthony Patrick was more than just tiny. He was diagnosed with Down syndrome in his mother's seventh month of pregnancy and born two weeks later.

"I didn't get tested sooner because I knew we weren't going to abort," Hicks said. "And the only reason I did get tested was because the doctor said he thought the baby may have a chromosomal disorder that could cause him to die shortly after birth, and we wanted to be prepared."

Comstock said testing can help parents prepare for the future because Down syndrome children face other health problems, most notably heart defects.

"The babies need to be delivered at a place where there's a pediatric cardiac surgeon on staff," Comstock said. "It can be viewed as a better way to prepare for the birth and possible complications of a child with Down syndrome."

Scientists say the new test is more accurate: 96 percent compared to 81 percent for the old test. That alone reduces the need for subsequent tests that are costlier and more invasive. Typically, a positive test would be followed by an amniocentesis, in which a needle is used to remove some amniotic fluid that surrounds a baby in the mother's womb so it can be analyzed. The new screening involves a blood test of the mother and an ultrasound that can detect the fatty deposit found on the necks of Down syndrome children.

Comstock said an amniocentesis can cost several thousand dollars while a first-trimester test is less than $500 and also covered by many insurance companies.

Tom Tomlinson, professor and director of the Center for Ethics and Humanities in the Life Sciences at Michigan State University, said the goal of screening is to reduce the incidence of disabilities in the general population.

"But what does that say about the status of people who already have disabilities?" he asks "Our concern is that the focus has been questioning the value of the contribution of people with Down syndrome."

Dr. Mark Rothstein, director of the Bioethics Institute at the University of Louisville School of Medicine, says the tremendous strides made in prenatal testing will only continue and likely raise even more ethical questions.

"Twenty years ago, we could test prenatally for about 70 things," Rothstein said. "Now we can test for 700 diseases. We ought to anticipate this same increase in the future. It's just a matter of time before we'll be able to choose physical characteristics."

Pastor Steven Husava of Northfield Hills Baptist Church in Troy said he's not against the testing, but he is wary of what women will decide with the results.

"It reminds me of Nazi Germany when Hitler was trying to create a master race," he said. "I'm not saying we're trying to get a super race, but I do believe we're trying to make things better than normal. It's another door to allow women to choose abortion, and I believe life begins at conception."

"I'm a big supporter of choice," he said. "For that reason, I am in favor of the new screening because it enables women to exercise more choice in their pregnancy."

She took a traditional blood test 16 weeks into pregnancy and said she may not have sought an earlier test."I couldn't say what I'd do in that situation," she said. "I'm not saying I could handle it or abort. But it's a great choice for women who are not cut out to be parents of a child with Down syndrome."

"We must be in a position to offer a diagnosis that is fast, safe, cheap and effective," he said. "But if it's too easy, and too fast, and too cheap, maybe it's not such a good thing, because maybe too many women will use it for conditions perhaps not as serious, as life-threatening or devastating."

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