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Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling |
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| Authors: | A G W Hunter MD M D'Alton B Wey H S Wang D W Thompson |
| Institution: | 1. Department of Obstetrics and Gynecology, Ottawa Civic Hospital University of Ottawa, Ottawa, Canada
Department of Obstetrics, University of Ottawa, Ottawa, Canada;2. Division of Genetics, Children's Hospital of Eastern Ontario University of Ottawa, Ottawa, Canada Department of Pediatrics University of Ottawa, Ottawa, Canada;3. Division of Genetics, Children's Hospital of Eastern Ontario University of Ottawa, Ottawa, Canada |
| Abstract: | We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/ 47.XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study. |
| Keywords: | Amniocentesis Mosaicism Maternal contamination Percutaneous umbilical cord sampling |