Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations |
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| Authors: | Diane van Opstal Cardi van den Berg Milena G J Jahoda Helen Brandenburg Frans J Los Peter A In'T Veld |
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| Institution: | 1. Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands;2. Department of Obstetrics and Gynaecology, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands |
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| Abstract: | Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype. We performed, retrospectively, fluorescent in situ hybridization (FISH) with the chromosome 18 centromere probe (L1.84) on interphase nuclei of destained slides of all cases of full trisomy 18 (n=22) and mosaic trisomy 18 (n=8) detected among 7600 first-trimester chorionic villus samples during an 8-year period (1985–1992). More nuclei displaying three signals were encountered in cases of full and mosaic trisomy 18 confirmed in fetal tissue than in non-confirmed cases. FISH can be useful for the verification of trisomy 18 in direct chorionic villus preparations. |
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| Keywords: | Trisomy 18 chorionic villi confined placental mosaicism fluorescent in situ hybridization |
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