June 17, 2011

NEW YORK – Women of childbearing age should be happy with the news: American companies are working to develop a blood test for Down’s syndrome that is more accurate than those currently available as soon as possible. This test could save many women from having an amniocentesis.

The test makes it possible to recover fetal DNA in the maternal blood, at nine weeks of pregnancy, before it is obvious to those around him. Until then, amniocentesis, a test that involves removing amniotic fluid by inserting a syringe into the mother’s womb, could only be performed at four months of pregnancy, or even more.

Down’s syndrome is a genetic disease that causes slower mental and physical development. Those who suffer from it have flattened faces, short necks, and smaller hands and feet. They have a significant risk of complications, especially cardiac or auditory. Their life expectancy is around 21 years.

In most cases, trisomy 21 is diagnosed after birth, but if this new blood test is generalized, it could be long before. Even if an antenatal diagnosis can represent a difficult issue for couples who must decide whether or not to abort. Because parents of children with Down’s syndrome face difficulties both in the field of education and in the care of this child who has become an adult, a difficult period for aging parents, said the doctor. Mary Norton, professor of obstetrics and gynecology at Stanford University.

For his part, Dr. Brian Skotko, a specialist in Down’s syndrome at the Boston Pediatric Hospital, believes that “the vast majority of children with Down’s syndrome and their families say that these lives are very valuable.” He is the author of a scientific article for the use of doctors and relating to the announcement of the diagnosis of trisomy.

Initially, doctors thought to reserve this test for women at risk, especially those over the age of 35. Ultimately, it could replace the routine tests offered to any pregnant woman. Because it gives fewer false alarms than current tests, fewer women will be offered unnecessary amniocentesis, experts say. And since the risk of miscarriage is zero, an increased number of women may be invited to submit to it. As a result, the number of women who know they are pregnant with a child with Down’s syndrome could increase.

Two Californian companies, Sequenom and Verinata Health, hope to offer the test to American doctors by next April. These companies anticipate their release during the first quarter of 2012, that of Sequemon effective from 10 weeks of pregnancy, that of Verinata, from eight weeks. The results will be available seven to ten days later. For its part, LifeCodexx AG, a German company, declares that it wants to make its tests available to the European market from the end of 2011, tests that can be carried out between the 12^e and 14^e week. None of these companies mentioned prices.

Because the test provides a response very early on, before the pregnancy is noticed or the mother feels her baby move, it may allow for voluntary termination of pregnancy before the end of the first trimester. “No one needs to know you’re pregnant,” added Brian Skotko. Maybe you didn’t even tell your husband ”.

Nancy McCrea Iannone of New Jersey gave birth to a baby girl with Down syndrome six years ago. “I would have really preferred a non-invasive test to the dilemma of whether or not to have an amniocentesis,” she says. Despite her fear of a miscarriage and a “needle in her stomach”, she finally agreed to undergo this examination. She now advises future mothers of children with Down’s syndrome and insists on the need to know the diagnosis before childbirth in order to prepare for it.

News from © The Canadian Press, 2011.