Trisomy 7 in chorionic villi: Follow-up studies of pregnancy,normal child,and placental clonal anomalies |
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| Authors: | Dr. C. Dawn DeLozier-Blanchet Eric Engel Philippe Extermann Béatrice Pastori |
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| Affiliation: | 1. Institute of Medical Genetics, University Hospital, Geneva, Switzerland;2. Department of Obstetrics and Gynecology, University Hospital, Geneva, Switzerland |
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| Abstract: | Cytogenetic study of chorionic villi sampled because of advanced maternal age revealed, after overnight culture, an apparently non-mosaic trisomy 7. Amniocentesis showed exclusively normal mitoses, and the pregnancy continued normally. One hundred mitoses from cord blood of the normal newborn revealed a non-mosaic 46,XX complement. No cells with a proven trisomy 7 were found in cultures from either of two biopsies of the morphologically normal placenta, but the peripheral biopsy showed in multiple cultures an abnormal clone: 47,XX, + 20,-2,-21, + t(2;21)(p13;q22). To our knowledge, this is the first case of non-mosaic trisomy 7 detected on CVS which has had follow-up studies of amniotic fluid, cord blood, and term placenta. |
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| Keywords: | Chorionic villus sampling Trisomy 7 Cytogenetics of placenta Prenatal diagnosis/discrepancies |
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