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从母体外周血中进行非侵入性胎儿 RhD 基因分型。

Noninvasive fetal RhD genotyping from maternal blood.

机构信息

Department of Medical Genetics, Athens University School of Medicine, Thivon & Levadias, Athens, Greece.

出版信息

Expert Rev Mol Diagn. 2010 Apr;10(3):285-96. doi: 10.1586/erm.10.5.

Abstract

Rhesus (Rh) D blood group incompatibility between a pregnant woman and the fetus can occasionally cause maternal alloimmunization and hemolytic disease of the fetus and of the newborn in subsequent pregnancies. RHD genotyping of fetuses carried by RhD-negative women using fetal DNA obtained invasively through amniocentesis or chorionic villus sampling is an aid to the clinical management of these cases. Technological advances allow for accurate prediction of fetal RHD genotype using cell-free fetal DNA from maternal blood, thus overcoming the invasive procedures. Presently, many laboratories worldwide provide the test as a routine service for immunized women. Mass application of RhD noninvasive prenatal diagnosis for all fetuses carried by RhD-negative women is highly desirable so that unnecessary anti-D administration is avoided.

摘要

孕妇与胎儿之间的恒河猴(Rh)D 血型不合偶尔会导致母体同种免疫和胎儿及新生儿溶血病。对 RhD 阴性妇女所怀胎儿进行 RHD 基因分型,使用通过羊膜穿刺术或绒毛膜活检术获得的胎儿 DNA 进行侵入性检测,有助于这些病例的临床管理。技术进步使得使用来自母体血液的无细胞胎儿 DNA 可以准确预测胎儿的 RHD 基因型,从而避免了侵入性操作。目前,全世界许多实验室都将该检测作为免疫妇女的常规服务提供。高度期望对所有 RhD 阴性妇女所怀胎儿进行 RhD 非侵入性产前诊断,以避免不必要的抗-D 治疗。

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