What are the diagnostic prenatal tests for Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Answer

Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. Noninvasive prenatal tests (NIPT) that analyze cell-free fetal DNA circulating in maternal blood are also available. [40, 41]


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