Technology

First they came for the trisomies....

Gene ExpressionBy Razib KhanJul 18, 2013 9:52 AM

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At 9 weeksCredit: Ed UthmanA new opinion piece in The New England Journal of Medicine is titled A New Era in Noninvasive Prenatal Testing. It is free, so I commend you to read the whole thing. But this is the key section, "A new, noninvasive prenatal test is poised to change the standard of care for genetic screening. Cell-free fetal DNA (cfDNA) testing requires only a maternal blood sample, can be performed as early as 9 weeks of gestation, and outperforms standard screening tests for trisomies 21, 18, and 13 in high-risk populations." Nine weeks is of course still in the 1st trimester. While 60 percent of Americans support the legality of 1st trimester abortions, only 30 percent support the legality of those in the 2nd, and it is in that trimester that the abortion of a fetus with a trisomy abnormality now occurs because the various prenatal tests are at this stage. Mind you, I understand that despite what the public says a larger share of parents who receive "positive" results in that trimester abort the pregnancy than might be expected based on surveys about the legality of the practice. But, there is probably considerable room on the margin for the class of those who would opt for this if the results arrived in the 1st trimester. And of course trisomy tests are just the beginning. Whole genome sequencing of 2nd trimester fetuses is now possible, and it seems very likely that in the next few years they'll move all the way to the 1st trimester. At that point the genetic analysis of 1st trimester fetuses will be routinized and be a simple consumption good. The ultimate question is what are we going to do with all that information? This is not hypothetical, speculative, or blue sky. It's almost a reality.

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