Van Opstal D, van den Berg C, Galjaard R J, Los F J
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
Prenat Diagn. 2001 Feb;21(2):75-80. doi: 10.1002/1097-0223(200102)21:2<75::aid-pd990>3.3.co;2-2.
Fluorescence in situ hybridization (FISH) on uncultured amniotic fluid (AF) cells is a widespread technique for the rapid prenatal detection of specific chromosome aberrations. During a 6-year period (1993-1998) we used FISH for quick follow-up investigations in uncultured AF cells after finding an uncertain chromosome aberration in a first chorionic villus (CV) or AF sample in 79 cases. These FISH results were compared with conventional cytogenetic results of the AF cell cultures in all cases. We found discrepant FISH and cytogenetic results in four instances. In general, FISH on uncultured AF cells proved to be a reliable technique for the rapid differentiation between confined placental mosaicism and true fetal mosaicism, and between pseudomosaicism and true mosaicism, respectively. Uncultured cells may sometimes even better reflect chromosomal mosaicism than cultured cells, since they are not subject to culture induced selection mechanisms. However, we found evidence that exceptional cases of tissue confined mosaicism may go undetected in uncultured cells.
对未培养羊水（AF）细胞进行荧光原位杂交（FISH）是一种广泛应用的技术，用于快速产前检测特定染色体畸变。在1993年至1998年的6年期间，我们在79例首次绒毛膜绒毛（CV）或AF样本中发现不确定的染色体畸变后，使用FISH对未培养的AF细胞进行快速随访研究。将所有病例的这些FISH结果与AF细胞培养的传统细胞遗传学结果进行比较。我们发现有4例FISH结果与细胞遗传学结果不一致。总体而言，对未培养AF细胞进行FISH被证明是一种可靠的技术，可分别快速区分局限性胎盘嵌合体与真正的胎儿嵌合体，以及假嵌合体与真正的嵌合体。未培养的细胞有时甚至可能比培养的细胞更好地反映染色体嵌合现象，因为它们不受培养诱导的选择机制影响。然而，我们发现有证据表明，未培养细胞中可能会漏诊特殊的组织局限性嵌合体病例。
