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Retired NBME 19 Answers

nbme19/Block 2/Question#16 (reveal difficulty score)
40 yo woman, chorionic villus sampling
Confined placental mosaicism ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
tags: genetics

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 +21  upvote downvote
submitted by โˆ—ajguard26(55)
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Chorionic villi sampling is the taking of genetic material within in the chorionic villi of the placenta. Chorionic sampling is done when a patient is at high risk for chromosomal abnormalities (previous pos. tests, 35yo or older, family hx.) during the 10-13 weeks of pregnancy.

Confined placental mosaicism results when the C.V.S. testing comes back back showing a trisomy, but all subsequent testing (and the fetus itself) have normal chromosomal counts. This may be due to either a trophoblastic mutation, or by "trisomic rescue," in which trisomic cells that were supposed to be in the fetus are confined to the placenta to prevent an abnormal fetus.

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cbay0509  thank you +
shakakaka  Why It's unreadable.. +4
randi  unfortunately you have to have an account to unscramble most responses +
chaosawaits  Wow, a +16 response (rarely see those) that we can't read... FML +2



 +0  upvote downvote
submitted by โˆ—chaosawaits(92)
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I would love to know the true odds that three separate samples of the chorionic villus are made and each 3 are completely isolated genotypes and none are a mixture of both. Also, I'd like to know how often a laboratory error is. If anyone has that data, I would love to see it.

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