Who needs prenatal testing for genetic disorders? How much does your risk of carrying a baby with a genetic disorder increase with your age? Which prenatal test or screen is right for you?
These are among the questions my amazing co-author Molly Dickens (and fellow pregnant scientist blogger/partner-in-crime) and I tackle in our new ebook on prenatal testing. We provide a quick “cheat sheet” on how these tests compare, and then dig into the nitty-gritty details of each as well as the history of prenatal testing and how to estimate your personal risk of carrying a baby with a genetic disorder.
Even having gone through prenatal testing twice before, I was still surprised to learn while researching this book that…
- Testing only women over 35, as was the case in the 80s and early 90s, misses around 70% of the cases of Down’s Syndrome.
- The risk of miscarriage from amnio and CVS is around 1 in 1000–far, far lower than the still commonly cited but outdated 1 in 100 estimate.
- Until you are 38 years old, you are more likely to carry a baby with a chromosomal disorders involving tiny pieces of chromosomes than carry a baby with disorder involving missing or extra whole chromosomes–but these disorders are not well detected by any prenatal screens. This is a huge problem, because younger women are often advised to get screens over diagnostic testing.
- How women under 35 are more than twice as likely to get a false alarms on prenatal screens as women over 35.
And so much more that I am excited to share.
We all need to up-to-date, evidence-based information to make the best decisions for us and our families. But with prenatal testing rapidly evolving, sometimes doctors and other healthcare professionals are woefully behind or outright misinformed on the latest developments. So please download and share with fellow parents-to-be!
Download the pdf here: Prenatal Testing ebook.
Amazing!
Thank you for the excellent analysis!
Any chance some of the potato quality images can be enhanced? Page 21 of the .pdf in particular.
Otherwise, this was an eye opener on some of the scary stats that are often thrown around.
Just wanted to say THANKS for this! Since having my first baby almost 5 years ago, I’m now pregnant with my second and the testing options have changed, but I haven’t been able to find a clear comparison that looks at the pros/cons and indications for each of the different options. One suggestion would be to put a publication date someone on the eBook (or maybe I missed it) and something in the blog post that indicates that the info is up-to-date as of X date.