http://singularityhub.com/2011/03/17/prenatal-down-syndrome-now-detectable-with-a-simple-accurate-blood-test/-snip-
Thankfully, we’re getting closer to the day when those 5-inch needles can be a thing of the past.
Genetic disorders are a broad and complex set of abnormalities in an individual’s DNA that can be evident in the womb or lay hidden until a later point in life. Down syndrome is one of the former and is the most common chromosomal condition, affecting one in every 691 babies. While it is most commonly associated with a characteristic physical appearance, other aspects of the syndrome can vary significantly from one individual to another, such as developmental delays, impairments in physical growth, and a range of other health issues, some life threatening. Nowadays, expectant mothers are warned about the possibility of Down syndrome especially because the risk for Down syndrome rises abruptly with age. In fact, the incidence rate increases from 1 in 1,250 at age 25 to 1 in 106 at age 40, and by age 49, that risk is 1 in 11.
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This new methodology not only reflects the power and potential of genetics screening, but it adds to the arsenal of prenatal knowledge that healthcare professionals and parents are gaining access to and at an earlier stage in gestation. A few years ago, we highlighted some of this progress with preimplantation genetic diagnosis for IVF embryos, but for parents who’ve gone about making babies the low tech way, earlier detection is important for making decisions about lifestyles. Let’s face it: raising a child with a genetic disorder can be daunting and many who discover the presence of trisomy 21 opt to terminate the pregnancy, as much as 92 percent in the UK. Ethics aside, this new test for Down syndrome will hopefully become part of the multitude of prenatal genetic conditions that are currently part of standard screens. Considering that 1 in 5 women have their first children after age 35, a new test can’t come soon enough.
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wonderful news