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  • Title: Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis.
    Author: Chen CP, Su JW, Chern SR, Kuo YL, Wu PS, Lee MS, Yang CW, Wang W.
    Journal: Taiwan J Obstet Gynecol; 2015 Feb; 54(1):58-61. PubMed ID: 25675921.
    Abstract:
    OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of mosaic isochromosome 20q at amniocentesis. MATERIALS AND METHODS: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, and conventional cytogenetic analysis revealed a karyotype of 46,XY,i(20)(q10)[12]/46,XY[7]. Repeated amniocentesis was performed at 20 weeks of gestation. During repeated amniocentesis, array comparative genomic hybridization (aCGH), interphase fluorescence in situ hybridization (FISH), and quantitative fluorescent polymerase chain reaction (QF-PCR) were performed on uncultured amniocytes, and conventional cytogenetic analysis and interphase FISH were performed on cultured amniocytes. RESULTS: Conventional cytogenetic analysis of cultured amniocytes revealed a karyotype of 46,XY,i(20)(q10)[4]/46,XY[16]. Interphase FISH analysis on 217 uncultured amniocytes did not detect isochromosome 20q, aCGH on the DNA extracted from uncultured amniocytes showed no genomic imbalance, and QF-PCR analysis on the DNA extracted from uncultured amniocytes excluded uniparental disomy 20 (UPD 20). Interphase FISH analysis on 115 cultured untouched amniocytes revealed 13% (15/115 cells) mosaicism for isochromosome 20q. CONCLUSION: Mosaic isochromosome 20q detected at amniocentesis can be a cell culture artifact. Detailed ultrasound examination, performing interphase FISH and/or aCGH on uncultured amniocytes for confirmation of true mosaicism, and performing QF-PCR to exclude UPD 20 may be useful under such a circumstance.
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