Top blog posts of 2013

Continuing the year in review, this second installment will cover the most read blog posts of 2013:

1. “So many choices: what does each do and how much do they cost?” is far and away the most read post from 2013. It was originally posted on March 12, 2013, and, like clockwork, it is in the top 5 of posts clicked on every single day. Clearly, it answers questions people have about the various non-invasive prenatal screening tests. I updated the post with a link to “Two years on what have we learned about the new Down syndrome prenatal test,” in the hopes that those curious about NIPS will want to find out more about what the tests actually test for, how accurate they are depending on a woman’s age, and how results still need confirmation through invasive diagnostic testing due to false positives and false negatives.
2. Coming in second is “When cell free fetal DNA isn’t” which also was posted in March. It’s a bit related to the top-ranking post as it seeks to clarify what non-invasive prenatal screening is actually testing. When NIPS was first written about, regularly the phrase “cell free fetal DNA” was used to describe what was tested. But, as an attendee at the American College of Medical Genetics and Genomics conference off-handedly mentioned, “everyone knows it’s placental DNA, not fetal DNA.” Perhaps if this was better understood, then it would be clearer that the new prenatal testing remains a screening test, with false positives and false negatives, because it is testing DNA from the placental cells, not the fetus, itself.
3. Somewhat surprisingly, given the top two posts, coming in third is a post that asks a very basic question: “What do you call someone with Down syndrome?” Posted on October 21 as part of the posts for National Down Syndrome Awareness Month, the post discusses people-first language, has a pretty funny cartoon, and features a video of my daughter on a local newscast.
4. Fourth and fifth are like one and two: related. Number 4 asked: “Is Down syndrome already starting to disappear?” The question was styled as a bit of a follow-up to a question posed by Dr. Skotko “With new prenatal testing will babies with Down syndrome slowly disappear?” And, my question was prompted by a report by a local organization that the disappearance may not take place slowly, as this group had experienced a dramatic drop-off in referrals of new and expectant parents. This in turn led to a mid-year informal survey of groups around the country, which did report that indeed they are experiencing on average a fall-off in the number of new members. I hope to update this informal survey soon into 2014 based on end-of-year numbers from support groups around the country.
5. The fifth post asked a further related question: “What are we losing if Down syndrome disappears?” With the fourth most-read post wondering if Down syndrome was disappearing, this post asked the question of “so what?” It cited reports of native tribes isolated from the modern world that were facing extinction, in which the commentary universally lamented the loss of human diversity. I wondered why this same lament did not apply to the loss of people with Down syndrome from the human family. Though the fifth most-read post, it is easily one of the top posts in the number of comments it generated from readers.

Thank you to all the readers in 2013, not just of these Top 5 posts, but of all the posts.

Tomorrow, I’ll turn to what I think were the most important stories of 2013 and then the third and likely last post this week will make some predictions on what I think can be expected in 2014 for Down syndrome and prenatal testing.