Prenatal diagnosis and 47,XXY.

  title={Prenatal diagnosis and 47,XXY.},
  author={Joe Leigh Simpson and Carole Samango-Sprouse},
  journal={American journal of medical genetics. Part C, Seminars in medical genetics},
  volume={163C 1},
In this contribution, we consider detection of 47,XXY by a variety of available methods. These include traditional invasive procedures, screening with maternal serum analytes and fetal ultrasound, and most recently cell-free fetal DNA. Since its introduction in the late 1960s, prenatal genetic diagnosis has evolved greatly. Serendipitious detection of 47,XXY was not infrequent when prenatal genetic diagnosis routinely involved testing by the invasive procedures CVS and amniocentesis. In 2013… CONTINUE READING
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