What’s your view on prenatal testing for Down syndrome?

check yes or no

Researchers at Standford want to know what you think about prenatal testing for Down syndrome and other genetic conditions. Continue Reading

How accurate is the new blood test for Down syndrome?

Dice open source

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. Continue Reading

Accuracy of Down syndrome blood test remains unknown

Non Invasive Prenatal Screening NIPS Brands

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.  Continue Reading

The ACMG steps out from the crowd with NIPS policy statement

One of these things is not like the other

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. Continue Reading

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

Non Invasive Prenatal Screening NIPS Brands

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 blood stream. ISPD has a "serious concern" about NIPS. Read on to find out why.  Continue Reading

What is the optimal prenatal testing protocol for Down syndrome?

Fig. 1 ISPD 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.  Continue Reading

A new age of prenatal testing for Down syndrome: a new name, new policy statements, and recognized resources for patients

American College of Medical Genetics and Genomics

On the same day, two major medical professional organizations announced their respective position statements concerning the newest form of prenatal testing for Down syndrome. There is A LOT to analyze, but here are some instant highlights from both.  Continue Reading

The nonmaleficent role of NIPT

Fig. 1 Inverse relationship

At last week's ACMG Annual Clinical Meeting, I presented a poster titled "The Ethics of Non-Invasive Prenatal Testing." It turns out that the logic of my argument could very well be reflected in practice guidelines that are soon-to-be-released. I doubt the force of my abstract submitted last winter is to account for the change. But, it is a bit ironic that because NIPT will cause a test with risk to potentially have greater risk, NIPT has justified itself being inserted as a step before the test Continue Reading

North Dakota enacts law banning Down syndrome-selective abortion

northdakota-locatemap

Yesterday, the Governor of North Dakota signed House Bill 1305, prohibiting sex-selective abortion and abortion for genetic abnormality. That same day, the Governor also signed a law banning abortion once a fetal heartbeat is detected. As a result, with abortion being invoked, the media reporting and instant comments devolved into pro-life/pro-choice arguments. But let's look at the actual language of the law that concerns Down syndrome abortions and see what it actually says before we choose Continue Reading