Division of Molecular Diagnostics, Sequenom Center for Molecular Medicine, 3595 John Hopkins Ct., San Diego, CA 92121, USA.
Am J Obstet Gynecol. 2011 Mar;204(3):251.e1-6. doi: 10.1016/j.ajog.2010.09.028. Epub 2010 Nov 18.
The objective of the study was the evaluation of a novel multiplex assay to detect fetal Rh blood group D-antigen gene (RHD) loci in maternal plasma from RhD-negative, pregnant women.
An RHD genotyping assay was designed to detect exons 4, 5, 7, and 10 and RHDΨ (pseudogene) of the RHD gene along with a Y chromosome-specific assay and a generic polymerase chain reaction amplification control. Plasma samples from 150 RhD-negative pregnant women were assayed for fetal RHD genotype using the MassARRAY system.
The fetal RHD status of 148 of 150 samples (98.7%) was correctly classified; 86 (57.3%) and 62 (41.3%) were positive and negative, respectively.
This study demonstrates that noninvasive prenatal diagnostics with a single-reaction multiplexed assay is a viable path toward routine characterization of fetal RHD genotypes using circulating cell-free fetal DNA in maternal plasma on the MassARRAY system and is perhaps preferable to serologic testing as currently used clinically.
本研究旨在评估一种新型多重分析方法，用于检测 RhD 阴性孕妇母体外周血浆中胎儿 Rh 血型 D 抗原基因（RHD）座。
设计了一种 RHD 基因分型分析方法，用于检测 RHD 基因的外显子 4、5、7 和 10 以及 RHDΨ（假基因），同时还设计了一个 Y 染色体特异性分析方法和一个通用聚合酶链反应扩增对照。使用 MassARRAY 系统对 150 名 RhD 阴性孕妇的血浆样本进行胎儿 RHD 基因型检测。
150 个样本中的 148 个（98.7%）胎儿 RHD 状态得到正确分类；86 个（57.3%）为阳性，62 个（41.3%）为阴性。
本研究表明，使用单反应多重分析方法进行非侵入性产前诊断是一种可行的方法，可通过 MassARRAY 系统利用母体外周血浆中循环无细胞胎儿 DNA 对胎儿 RHD 基因型进行常规特征描述，这可能优于目前临床上使用的血清学检测。
