For years doctors have struggled to identify Down Syndrome in pregnant women, giving expectant mothers the opportunity to abort the full term. Now a new blood test promises to change all that with several new products coming to market that aim to provide accurate results in the 8th to 12th weeks.
Until these tests become commonly used and proved, women have to rely on an ultra sound that gives only risk indications. If the Sonographer finds indications of higher than normal risks, the mother has to undergo invasive tests, that not only put her under stress but subject her to a medical procedure at a delicate time in her term.
Prior to the new tests the only way to identify Down Syndrome was by capturing DNA from the fetus using a needle procedure called amniocentesis, that can’t be done until well into the second trimester and another method known as chorionic villus sampling, which collects tissue samples from the placenta. Both have a small but real risk of miscarriage and obviously require a highly trained, experienced and skilled practitioner that may not always be easily available; adding to the mother’s stress.
Down syndrome slows mental and physical development, and individuals with the 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’re at risk for complications like heart defects and hearing problems. Life expectancy is about 60 years.
Dr. Mary Norton, a Stanford University professor of obstetrics and gynecology clarifies :
A diagnosis before birth can pose a difficult challenge for couples as they decide whether to continue the pregnancy. It’s not only about child-rearing, but also about what happens as the child grows into an older adult and may need care that the aging parents struggle to provide.
But parents who have gone the full term either by choice or unknowingly, assert their children have grown into valuable and intelligent adults in their communities, despite some minor social and psychological difficulties.
Two California based corporations, Sequenom Inc. and Verinata Health Inc., intend to offer the new tests to doctors in the United States by April 2012. They say it could be done accurately in the first trimester, with Sequenom at about 10 weeks, and Verinata as early as eight weeks. Results would be available 7 to 10 days afterwards. Another player, LifeCodexx AG of Germany says it will start offering its test in Europe by the end of the year, to be performed at 12 to 14 weeks initially. None of the companies would discuss costs.
Written by Rupert Shepherd