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通过母体血清分析进行胎儿RhD基因分型:两年经验

Fetal RhD genotyping by maternal serum analysis: a two-year experience.

作者信息

Gautier Evelyne, Benachi Alexandra, Giovangrandi Yves, Ernault Pauline, Olivi Martine, Gaillon Thierry, Costa Jean-Marc

机构信息

Centre de Diagnostic Prenatal, Americal Hospital of Paris, Neuilly, France.

出版信息

Am J Obstet Gynecol. 2005 Mar;192(3):666-9. doi: 10.1016/j.ajog.2004.10.632.

Abstract

OBJECTIVE

The purpose of this study was to determine the accuracy of the none-invasive prenatal determination of polymerase chain reaction (PCR)-based fetal RhD genotyping.

STUDY DESIGN

A prospective case series was undertaken on all RhD-negative pregnant women presenting for genetic counseling in our prenatal diagnosis center from January 2001 until December 2002. Results were compared with serologic RhD typing of the newborns.

RESULTS

Among the 285 pregnant women who participated in the study, fetal RhD status could be determined for 283 patients. In 2 cases, the RhD-negative phenotype of the mother was not the result of a complete RHD gene deletion, and therefore, the status of the fetus could not be determined. Neither false-negative nor false-positive results were observed.

CONCLUSION

The present report demonstrates that a reliable fetal RHD genotype determination can be achieved with 100% accuracy. It is therefore possible to consider that such an assay could be systematically proposed to all RhD-negative pregnant women in order to more effectively utilize RhD prophylaxis.

摘要

目的

本研究旨在确定基于聚合酶链反应(PCR)的无创产前胎儿RhD基因分型的准确性。

研究设计

对2001年1月至2002年12月在我们产前诊断中心进行遗传咨询的所有RhD阴性孕妇进行了一项前瞻性病例系列研究。将结果与新生儿的血清学RhD分型进行比较。

结果

在参与研究的285名孕妇中,可为283名患者确定胎儿RhD状态。在2例中,母亲的RhD阴性表型不是完全RHD基因缺失的结果,因此无法确定胎儿的状态。未观察到假阴性或假阳性结果。

结论

本报告表明,可以100%准确地实现可靠的胎儿RHD基因型测定。因此,可以考虑向所有RhD阴性孕妇系统地提出这种检测方法,以便更有效地利用RhD预防措施。

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