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染色体异常的产前诊断依赖于对最高危人群的侵入性试验后作出的危险性评估。危险性评估是通过综合母亲的年龄、胎儿颈背的半透明物和最高危人群中的5％的侵入性试验可鉴定约80％的怀孕21号染色体三体型。初步报导提示,染色体异常也可以通过从母亲的血液中浓集的胎儿细胞作荧光原位杂交试验(FISH)来诊断。本项研究检查这种方法对胎染色体三体型病的产前诊断的潜在作用。从230名怀孕10—14周的孕妇作侵入性检查之前采集血液。经三重密度离心和抗-CD71吸附细胞选择作用浓集胎儿细胞之后进行FISH,并对染色体正常和异常组中的阳性细胞率进行测定。胎儿的染色体组型分类,150例是正常的,有80例异常,其中包括36例21号染色体为三体型。应用21号染色体特异性探针发现在61例21号染色体三体型妊娠中至少有5％的存在3-信使核,而在正常妊娠者中则未发现。对来自母亲血液中的胎儿细胞进行检测可能提供一种非侵
Prenatal diagnosis of chromosomal abnormalities relies on risk assessment after invasive testing of the most at-risk populations. Risk assessment identified approximately 80% of trisomy 21 pregnancies by integrating 5% of invasive tests in the mother’s age, fetal transfusions and the most at-risk population. Preliminary reports suggest that chromosomal abnormalities can also be diagnosed by FISH with fetal cells concentrated from the mother’s blood. This study examined the potential effect of this method on prenatal diagnosis of trisomy. Blood was collected from 230 pregnant women 10-14 weeks of age before the invasive examination. FISH was performed after the fetal cells were concentrated by triple density centrifugation and anti-CD71 adsorbed cell selection, and the positive cell rates in normal and abnormal chromosomes were determined. Fetal genomics classification, 150 cases are normal, there are 80 cases of abnormalities, including 36 cases of chromosome 21 trisomy. The use of chromosome 21-specific probes revealed that at least 5% of 3-messenger nuclei were present in 61 cases of trisomy 21, but not in normal pregnancies. Detection of fetal cells from the mother’s blood may provide a non-invasive assay