Just saw today that my son’s prenatal sequencing was mentioned in DNA: The Story of the Genetic Revolution:
The ethics of sequencing a presumably health fetus will be debated for years to come. But the day of doing is already here. Razib Khan, a thirty-something graduate student and blogger, decided to sequence his first child’s genome while his wife was still pregnant. Although one instance of whole-genome sequencing in utero was reported in the New England Journal of Medicine in 2012, that had been done to supplement a positive cytogenetic result….
I want to correct the record for future printings: my first son was my second child. And, it was not my decision, it was our decision. My wife was an equal partner, and did as much behind the scenes in making the sequencing happen.
You really just run Promethease on the data? Why would you need the whole 3 billion bases if they don’t have interpretation beyond SNPedia’s set of SNPs? (not too mention that for a great faction of common SNPs, you’ll find a p-hacked association study wit condition, typically from some Chinese lab)
Why would you need the whole 3 billion bases if they don’t have interpretation beyond SNPedia’s set of SNPs?
didn’t. i did it cuz i could (that was clear in the earlier stories in the rest of the passage)
Did you do an amniocentesis and if so, did you consider it being a negligible risk? I consider it the main problem for detailed prenatal testing with the current limits of nipt.
just cvs. please see the article.
(it’s been a few years but it struck me that most of the research suggesting heightened miscarriage risk suffered from ascertainment bias. eg., who is most likely to do these more extensive tests?)
As far as I know the risk depends on the experience of the doctor doing it before anything else. But there are additional risk factors beyond genetic defects like infections too.
Both cvs and amniocentesis are risky. We really need a solution for that. Because if there is no other indication, the risk for both tests is higher than for a serious genetic defect. Thats the only reason we did just the nipt.