Cacheux V, Tachdjian G, Druart L, Oury J F, Sérero S, Blot P, Nessmann C
Unité de Cytogénétique, Hôpital Robert Debré, Paris, France.
Prenat Diagn. 1994 Feb;14(2):79-86. doi: 10.1002/pd.1970140202.
The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, and 21, and sex chromosomes. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. This prospective study evaluated the use of four commercially available centromeric DNA probes (DXZ1, DYZ1, D18Z1, and D13Z1/D21Z1) for direct analysis of uncultured amniocytes. One hundred and sixteen amniotic fluid samples were analysed by FISH and standard cytogenetics. This evaluation demonstrated that FISH with X, Y, and 18 alpha satellite DNA probes could accurately and rapidly detect aneuploidies involving these chromosomes and could be used in any prenatal clinical laboratory. In contrast, the 13/21 alpha satellite DNA probe hybridizing both chromosomes 13 and 21 was unreliable for prenatal diagnosis in uncultured amniocytes.
产前诊断出的主要非整倍体涉及常染色体13、18和21以及性染色体。荧光原位杂交（FISH）可快速分析间期细胞中的染色体拷贝数。这项前瞻性研究评估了四种市售着丝粒DNA探针（DXZ1、DYZ1、D18Z1和D13Z1/D21Z1）用于直接分析未经培养的羊水细胞的情况。通过FISH和标准细胞遗传学方法分析了116份羊水样本。该评估表明，使用X、Y和18号α卫星DNA探针进行FISH能够准确、快速地检测涉及这些染色体的非整倍体，并且可用于任何产前临床实验室。相比之下，同时与13号和21号染色体杂交的13/21号α卫星DNA探针在未经培养的羊水细胞产前诊断中不可靠。
