Prenatal diagnosis and 47,XXY


  • Dr. Joe Leigh Simpson M.D.,

    Corresponding author
    • March of Dimes Foundation, 1275 Mamaroneck Avenue, White Plains, NY 10605.
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    • Joe Leigh Simpson, M.D. is senior vice president for Research and Global Programs at the March of Dimes where he oversees a multi-million dollar research grant portfolio focused on the prevention of birth defects, premature birth, and infant mortality, including basic biological processes of development, genetics, clinical studies, studies of reproductive health, environmental toxicology, and studies in social and behavioral sciences. Dr. Simpson also serves at present as Professor and Chair, Department of Human and Molecular Genetics and Professor Obstetrics and Gynecology at Florida International University, Miami. He has authored numerous books; articles, chapters, and reviews on topics ranging from diabetes and birth defects, to safety and efficacy of prenatal genetic diagnosis, to recovery of fetal cells and cell-free DNA from maternal blood, to biosensors.

  • Carole Samango-Sprouse

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    • Carole Samango-Sprouse, Ed.D is an Associate Clinical Professor of Pediatrics at the George Washington University School of Medicine and Health Sciences. She is actively involved in the clinical and developmental care of children with rare neurogenetic disorders. She is the CEO of the Neurodevelopmental Diagnostic Center providing care for children with uncommon neurogenetic disorders from all over the world. She writes extensively about the relationship between brain function, neurodevelopmental profile and neurogenetic disorder. She has provided care for children with 49,XXXXY for over 10 years.

  • Advances in prenatal genetic diagnosis that impact on detection of 47,XXY.

  • How to Cite this Article: Simpson JL, Samango-Sprouse C. 2013. Prenatal diagnosis and 47,XXY. Am J Med Genet Part C Semin Med Genet 163C: 64–70.


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 this is much less common and relatively few pregnancies in the U.S. and Europe are tested without prior screening protocols, traditionally maternal serum analyte and fetal ultrasound (NT). These protocols are not designed to identify 47,XXY or other X-chromosome aneuploides and with screening by analysis of cell-free DNA in maternal blood, this situation may or may not be altered. Increased numbers of cases could be detected if intake increases and vendors offer information on 47,XXY. A further consideration is that ability of array CGH to detect microdeletions or microduplications below resolution of a karyotype could make return to direct testing using an invasive procedure attractive. © 2013 Wiley Periodicals, Inc.