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ID 2195

De novo variants and genetic screening

Professor Judith Rapoport discusses the use of screening for copy number variants to detect potential problems during pregnancy.
Absolutely, and in fact, although this is politically a controversial issue, the ones (copy number variants) that are de novo are of particular interest for prenatal screening, because today the chips for prenatal screening that are most often used for older women, who are either worried about an inborn disease that might run in their family or about Down syndrome, they now can put one thousand rare diseases on a single prenatal screening chip. For the same 50 dollars that you might have paid for, say, screening for Down syndrome, you might screen for a number of rare disorders, and people are increasingly doing this. The de novo, highly penetrant findings would be a form of schizophrenia you could prevent if you are philosophically – and most don’t object – to terminating pregnancy. The majority of women who choose to have this screening would terminate pregnancy if they found something.
screening, de novo, copy, number, variant, variance, pregnancy, penetrant, judith, rapoport
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