Holiday

I am on a week-long vacation with intermittent internet access. Posting, therefore, will be light. However, I have added a “News” page, available at this link. I invite you to visit the links there and please share any news items with me at mleach[at]downsyndromeprenataltesting[dot]com.

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“Not exactly a great scientific achievement”: prenatal testing in low risk populations

Yesterday’s post generated a lot of discussion on Facebook and off-line about the role of maternal age and the incidence of Down syndrome. Today, we consider the value of prenatal screening for Down syndrome in relation to the mother’s age.

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Maternal age, the chance for Down syndrome, and prenatal testing

In 2007, the medical guidelines changed from only offering women 35 years old and older prenatal testing for Down syndrome to offering it to all expectant mothers. This, however, should not mean maternal age is irrelevant when considering prenatal testing. And, it turns out, something commonly reported about maternal age is incorrect.

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How accurate is the new blood test for Down syndrome?

When receiving a test result from the new blood test for Down syndrome that says “positive,” do patients understand there may be a one-in-five chance of a false positive? Or even a one-in-two, depending on the mother’s age? Even genetic counselors admit this is difficult to grasp.

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Accuracy of Down syndrome blood test remains unknown

It is coming up on two years since Non-Invasive Prenatal Screening (NIPS) was introduced. The New England Journal of Medicine recently featured an article raising concern over how the new blood test for Down syndrome is being used. It cautions against the new test being used in the general population. 

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Before we silence Down syndrome, shouldn’t we try to understand it better?

Reactions to the news of the researchers “turning off” the extra 21st Chromosome that is the genetic cause of Down syndrome continue to be shared. Yesterday brought the most concise explanation of the actual research and a question that has not yet been raised about it.

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Down syndrome is not incompatible with life

I’ve talked about how receiving a diagnosis of Down syndrome can be a gut-punch. One that hits you. But, there are other perspectives on a Down syndrome diagnosis.

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An incredibly complicated question … the most fundamental, existentialist question

Headlines and reporting continue to roll in on the news of scientists shutting off the extra 21st Chromosome in cells in a petri dish. In another column, a father ponders some of the same issues that have been on my mind with this news.

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Blog hop: 3 (21) about Down syndrome

  Powered by Linky Tools Click here to enter your link and view this Linky Tools list… Trying to do this blog hop thing: One truth: there has never been a better time to be born with an extra 21st Chromosome than the 21st Century (TM). Life expectancy has more than doubled since the 1980’s and […]

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