拍攝日期：2024/03/11
主講人：陳持平（馬偕紀念醫院婦產部 主治醫師/教授）
With the advent of molecular cytogenetic technology, cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes has been observed in mosaicism such as mosaicism for i(20q), trisomy 20, trisomy 7, trisomy 15, trisomy 8 and a small supernumerary marker chromosome (sSMC) derived from 9q at amniocentesis. This implies that the in-vitro culture process during conventional cytogenetic analysis may cause false-positive, false-negative and overestimated mosaic level results, and a need for uniparental disomy (UPD) testing when the chromosomes with imprinting genes are involved such as chromosomes 6, 7, 11, 14, 15, 16 and 20.
Progressive decline and disappearance of the aneuploid cell line after birth have also been observed in the reported favorable cases with mosaicism, such as mosaicism for trisomy 2, trisomy 5, trisomy 8, trisomy 9, trisomy 12, trisomy 13, trisomy 15, trisomy 16, trisomy 17, trisomy 18, tetrasomy 18p, trisomy 20, trisomy 21, sSMC(9q) and 45,X at amniocentesis. This indicates that mosaicism for chromosome aberrations with a normal euploid cell line at amniocentesis can be a transient and benign condition. This information is very helpful for genetic counselors and parents who wish to keep the baby under such circumstances.
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