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monsoon-nlp commited on Jun 9

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@@ -104,4 +104,5 @@ Reddit,/r/genetics,"I am not seeking medical advice I just have a question on ho
 Reddit,/r/genetics,"My husband and I did our carrier screening and it came back positive for dihydropyrimidine dehydrogenase deficiency (DPYD Deficiency).
 We both are silent carriers of it, since we both carry it there is a 1 in 4 chances the baby will have it. If baby does have it just means he can’t take this one specific chemo drug but he is fine and non symptomatic his entire life.
 However if he has a super rare form of it there are 25 cases in the entire world that baby with this has neurological issues (seizures, intellectual disabilities, autistic behavior). This is the part that is scary to me.
-My question is if anyone has seen this IRL or knows any research done on the neurological symptoms."

 Reddit,/r/genetics,"My husband and I did our carrier screening and it came back positive for dihydropyrimidine dehydrogenase deficiency (DPYD Deficiency).
 We both are silent carriers of it, since we both carry it there is a 1 in 4 chances the baby will have it. If baby does have it just means he can’t take this one specific chemo drug but he is fine and non symptomatic his entire life.
 However if he has a super rare form of it there are 25 cases in the entire world that baby with this has neurological issues (seizures, intellectual disabilities, autistic behavior). This is the part that is scary to me.
+My question is if anyone has seen this IRL or knows any research done on the neurological symptoms."
+Reddit,/r/GeneticCounseling,"I had a WES panel done with Prevention genetics due to a high NT in my baby at 13 weeks pregnant. My doctor told me they ran only primary findings and issues associated with high NT. I’m not sure what that means or what the WES would cover then than the karyotype and microarray didn’t. Does anybody know? If you’ve had WES, how do you know what the test is looking for?"