Oosterwijk J C, Mesker W E, Ouwerkerk-Van Velzen M C, Knepflé C F, Wiesmeijer K C, Beverstock G C, Van Ommen G J, Tanke H J, Kanhai H H
Department of Cytochemistry and Cytometry, Leiden University Medical Centre, The Netherlands.
Prenat Diagn. 1998 Oct;18(10):1082-5.
In a pilot study to establish fetal nucleated red blood cell (NRBC) detection in maternal blood, trisomy 13 was diagnosed by FISH analysis at 11 weeks' gestation. The NRBCs were detected after a single-step ficoll density gradient enrichment. In blood samples taken both before and after CVS, 52 and 80 NRBCs, respectively, were found to be positive for fetal haemoglobin. In 47 per cent of these cells, FISH analysis for X and Y chromosomes confirmed the fetal sex. Moreover, 48 per cent of these NRBCs showed three fluorescent signals for a chromosome 13 probe, which confirmed the diagnosis of trisomy 13, previously detected at CVS karyotyping. This is the first report of non-invasive prenatal diagnosis of trisomy 13, i.e., pre-CVS, in the first trimester. The high number of fetal NRBCs detected indicates a connection with aneuploidy, probably due to early impairment of the feto-maternal barrier.
在一项用于确定母血中胎儿有核红细胞（NRBC）检测的初步研究中，妊娠11周时通过荧光原位杂交（FISH）分析诊断出13三体综合征。经一步法菲可密度梯度富集后检测到了NRBC。在绒毛取样（CVS）前后采集的血样中，分别发现52个和80个NRBC的胎儿血红蛋白呈阳性。在这些细胞的47%中，对X和Y染色体的FISH分析证实了胎儿性别。此外，这些NRBC的48%显示13号染色体探针有三个荧光信号，这证实了先前在CVS核型分析中检测到的13三体综合征的诊断。这是关于孕早期13三体综合征非侵入性产前诊断（即CVS前）的首次报告。检测到的胎儿NRBC数量较多表明其与非整倍体有关，可能是由于母胎屏障早期受损所致。
