MaterniT21

One of the workshops I attended at the NDSC Convention was about prenatal testing. Prior to the workshop I had already read about a non-invasive prenatal test for Down syndrome. 

At the workshop is where I learned that Sequenom The Center for Molecular Medicine is calling their new maternal blood test MaterniT21. Isn't that cute? (insert heavy sarcasm). At least there is no beating around the bush and hiding the fact of what they are truly targeting.

The new prenatal test will detect nucleic acid of the unborn baby that circulates in the blood of its mother. So they will be able to use the mother's blood to detect Down syndrome. This can be done as early as 9 weeks. The non-invasive test is diagnostic; it isn't a screening test. It's non-invasive unlike CVS and amnio which carries the risk of a miscarriage.

I'm all for progress and I can, to some extent, understand the excitement surrounding a non-invasive diagnostic test. But I can't help but think how much easier this will be to terminate a pregnancy and how many less children like my daughter will be born.

The problem is what information parents are given after a prenatal diagnosis. This was on a slide from the workshop, "Most Genetic Counselors appreciate that people with Ds can have friendships, hold jobs and go to school. Paradoxically, by self report, very few of the counselors point out these abilities in their descriptions of Ds to prenatal clients." And then this, "86% mentioned termination, 37% continuation of pregnancy, and 13% adoption." Hmm... all three options should be given and discussed to make an informed decision.

There is a new booklet being distributed to medical professionals called Understanding a Down Syndrome Diagnosis & Presenting a Down Syndrome Diagnosis. Hopefully this will find its way into every OB and/or genetic counselor's offices to help facilitate a full and complete discussion on the diagnosis and what it means.

A great resource for anyone receiving a prenatal diagnosis of Down syndrome, and choosing to continue with their pregnancy, is the free downloadable ebook Diagnosis To Delivery: A Pregnant Mother's Guide To Down Syndrome."

I'm all for progress but why can't that progress (money/research) be geared towards helping those with Down syndrome who make it in to this world instead of trying to stop them from ever being born?

Grab This Button