Seeing a dream come true

In the video you will see news coverage of Lydia Orso and Tom Swenson’s wedding. I expect that when Lydia was born, no one believed one day she would be exchanging vows at her wedding ceremony–I know I would not have.

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Is the ISPD statement unjustified?

Continuing the series of posts on the new International Society for Prenatal Diagnosis’s (ISPD) policy statement on prenatal testing for aneuploidy, I will seek to answer the questions prompted by that statement. In doing so, it leads to the ultimate question of whether the ISPD statement is unjustified?

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“Louise is a mongoloid child” who became a loquacious adult

Louise Brown was born in 1961. At that time, it was appropriate to describe her as “mentally and physically handicapped” and “a mongoloid child.”

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It’s Friday, let’s have some fun

I’ll resume my series on the new policy statements on the newest form of prenatal testing for Down syndrome next week. But, it’s Friday, so let’s have some fun. Enjoy the video of Kaitlyn, a 16 year old with Down syndrome, showing off her skills hula-hooping during halftime. Not many of us can hula-hoop that […]

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Does the ISPD have its own version of Voldemort?

The International Society for Prenatal Diagnosis (ISPD) has issued a new position statement on prenatal testing for Down syndrome. I have reported on what the statement says in the past several posts. Now, we turn a critical eye to the statement to provide an ethical assessment of it. What is most glaring is what is […]

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The ACMG steps out from the crowd with NIPS policy statement

Along with the ISPD, the American College of Medical Genetics and Genomics (ACMG) issued its own policy statement on the newest form of prenatal testing for Down syndrome. The ACMG statement says some of the same things as the other professional medical organization positions, but it sets itself apart on several key points.

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Happy birthday, Baby Doe

Today would have been Baby Doe’s birthday. But, when Baby Doe was born in 1982, he was born with Down syndrome and his doctor believed some individuals with Down syndrome were “mere blobs.” The doctor’s medical advice to Baby Doe’s parents was that they should let their child die from lack of care. I wrote […]

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The ISPD has a serious concern about new prenatal testing for Down syndrome

The International Society for Prenatal Diagnosis (ISPD) issued a policy statement that sets forth its position on prenatal testing for Down syndrome. The policy statement was prompted by the new prenatal testing for Down syndrome called Non-Invasive Prenatal Screening (NIPS), where a mother’s risk assessment is recalculated based on testing cell free DNA in her […]

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What is the optimal prenatal testing protocol for Down syndrome?

Last week, both the American College of Medical Genetics and Genomics and the International Society for Prenatal Diagnosis (ISPD) issued position statements on the latest developments in prenatal testing for Down syndrome. I selected highlights here. In this post, I cover what the ISPD statement claims is “optimal” for prenatal testing for Down syndrome. 

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