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Ggfd8675 t1_ivvjmim wrote

Reply to comment by Juniper_Moonbeam in In a first, doctors treat fatal genetic disease before birth by 29PiecesOfSilver

NYT has being doing amazing investigative reporting on a similar issue with prenatal screens: https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html

FDA issued a warning to parents: https://www.fda.gov/medical-devices/safety-communications/genetic-non-invasive-prenatal-screening-tests-may-have-false-results-fda-safety-communication

This is a different type of testing than the newborn screen (blood spot cards) you are talking about. It’s screening fetal genetic material in maternal circulation during pregnancy. But this also has the problems of false positives and failure to properly counsel parents about the result.

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Juniper_Moonbeam t1_ivvlrpl wrote

We got the NIPTS testing you’re referring to in the NYT study and that the FDA is talking about. Before we got it, I read a lot about it and had a long conversation with my doctor. I knew the risks going into it, and understood exactly what it was (a screening tool to assess risk) and what it was not (a diagnostic test). I had a great experience with the NIPTS and would do that again.

For the state blood spot screen, barely any information was given to me, and it was presented as mandatory. I did not understand it well, and didn’t have a conversation with a healthcare provider about it before it happened. So when we got our false positive I freaked the f out. Would not recommend. Sometimes I think this is what the FDA should be warning people about. But I understand the importance of it.

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