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AXYS - The Association for X&Y Chromosome Variations
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NIPT

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Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Article Title: Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities

Authors: Guo, Cai, Lin, Xue, Huang, and Xu

Date of Publication: August 12, 2022

A clinic had 47,855 patients undergo NIPT (noninvasive prenatal testing). They found that the positive predictive value (PPV) for sex chromosome abnormalities was 36.9%. The PPV in patients aged 30–34 years was significantly higher than that in patients aged < 30 years.

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Klinefelter Syndrome: What should we tell prospective parents?

Article Title: Klinefelter Syndrome: What should we tell prospective parents?

Authors: White, Zacharin, Fawcett, and McGillivray

Date of Publication: October 12, 2022

“With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike.”

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2022-10-25T13:09:07-04:00Categories: 47,XXY (Klinefelter)|Tags: , |
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