Lapidot-Lifson Y, Lebo R V, Flandermeyer R R, Chung J H, Golbus M S
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, USA.
Am J Obstet Gynecol. 1996 Mar;174(3):886-90. doi: 10.1016/s0002-9378(96)70319-8.
Our purpose was to develop fluorescence in situ hybridization to repetitive chromosome-specific sequences to detect chromosome aneuploidy faster than hybridization to unique targets or karyotyping.
Aneuploidy involving chromosomes 13, 18, 21, X, and Y comprises 70% of chromosome abnormalities in 10- to 12-week fetuses, 95% of the phenotypically significant newborn chromosome abnormalities. Our improved 8-hour protocol used repetitive probes to label and count the number of these centromeric chromosome domains.
This protocol correctly determined chromosome 13, 18, and 21 status in 50 of 50 unselected direct amniocyte samples and found abnormal patterns in 27 of 27 archived trisomy 21 cases. Altogether karyotyping confirmed 744 of 745 chromosome-specific repetitive sequence test results.
This protocol rapidly tests abnormal fetuses and newborn infants in whom diagnosis is made at the initiation of labor or before urgent surgery when a cytogenetic result cannot be completed.
我们的目的是开发针对染色体特异性重复序列的荧光原位杂交技术，以比针对单一靶点的杂交或核型分析更快地检测染色体非整倍体。
涉及13、18、21、X和Y染色体的非整倍体占10至12周胎儿染色体异常的70%，占表型显著的新生儿染色体异常的95%。我们改进的8小时方案使用重复探针标记并计数这些着丝粒染色体区域的数量。
该方案在50份未经选择的直接羊膜细胞样本中的50份中正确确定了13、18和21号染色体的状态，并在27例存档的21三体病例中的27例中发现了异常模式。核型分析总共确认了745例染色体特异性重复序列检测结果中的744例。
该方案可快速检测异常胎儿和新生儿，这些胎儿和新生儿在临产前或紧急手术前诊断，而此时细胞遗传学结果尚未完成。
