在一个种族背景高度多样化的人群中，从母体血浆进行胎儿RhD基因分型。
Fetal rhd genotyping from maternal plasma in a population with a highly diverse ethnic background.
作者信息
Machado Isabela Nelly, Castilho Lilian, Pellegrino Jordão, Barini Ricardo
机构信息
Departamento de Tocoginecologia da Universidade Estadual de Campinas e Hemocentro Unicamp, Universidade Estadual de Campinas, Campinas, SP.
出版信息
Rev Assoc Med Bras (1992). 2006 Jul-Aug;52(4):232-5. doi: 10.1590/s0104-42302006000400022.
OBJECTIVE
To establish the performance of conventional PCR as a noninvasive method for fetal genotyping, by free fetal DNA analysis of distinct RHD regions from maternal plasma, in a population of a diverse ethnic origin.
METHODS
We conducted a validity of the diagnostic test by analyzing 81 plasma samples from RhD-negative Brazilian pregnant women, from 4 to 41 gestational weeks. We tested for exon 10 and intron 4 gene regions by allele specific-PCR. Fetal RHD genotyping by PCR on maternal plasma was compared to serologic RhD typing in the neonatal period.
RESULTS
Samples were obtained as follows: 15 in the 1st, 37 in the 2nd and 29 in the 3rd trimester. General accuracy was 97.3%, sensitivity of 98.3% and specificity of 93.8%.
CONCLUSIONS
Conventional PCR is an accurate method for fetal RHD genotyping on maternal plasma, even in a population of mixed ethnic origin.
目的
通过对来自不同种族孕妇群体的母血血浆中不同RHD区域的游离胎儿DNA进行分析，确立常规聚合酶链反应（PCR）作为一种非侵入性胎儿基因分型方法的性能。
方法
我们通过分析81例妊娠4至41周的RhD阴性巴西孕妇的血浆样本，对该诊断试验进行了有效性验证。我们采用等位基因特异性PCR检测外显子10和内含子4基因区域。将基于母血血浆PCR的胎儿RHD基因分型与新生儿期的血清学RhD分型进行比较。
结果
样本获取情况如下：孕早期15例，孕中期37例，孕晚期29例。总体准确率为97.3%，灵敏度为98.3%，特异性为93.8%。
结论
常规PCR是一种用于母血血浆中胎儿RHD基因分型的准确方法，即使在混合种族群体中也是如此。
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