Prediction of fetal D status from maternal plasma:: introduction of a new noninvasive fetal RHD genotyping service
Prediction of fetal D status from maternal plasma:: introduction of a new noninvasive fetal RHD genotyping service
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DOI：
10.1046/j.1537-2995.2002.00165.x
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发表时间：
2002-08-01
期刊：
影响因子：
2.9
通讯作者：
Avent, ND
中科院分区：
文献类型：
--
作者：
Finning, KM;Martin, PG;Avent, ND
背景：获取胎儿DNA用于产前血型鉴定的侵入性程序对胎儿存在风险。在怀孕期间，无细胞胎儿DNA存在于母体血液中。研究设计和方法：设计实时PCR测定以区分RHD和RHDPsi（大多数D-黑人非洲人拥有）。对137名D-妇女的血浆来源DNA进行实时PCR，以检测胎儿RHD和Y染色体相关SRY序列。通过与常规RHD基因分型方法（胎儿组织或婴儿红细胞血清学检测）的结果进行比较，研究了母体血浆RHD基因分型的准确性。对94例孕妇血浆中胎儿DNA的含量进行了调查。结果：从孕妇血浆中预测胎儿D状态的准确率为100%。孕妇血浆中胎儿DNA的拷贝数随着妊娠期的增加而增加。结论：结合实时荧光定量PCR的灵敏度和改良的RHD分型方法，可以高度准确地预测孕妇血浆中胎儿D状态。这导致了临床非侵入性胎儿RHD基因分型服务的实施。
BACKGROUND: Invasive procedures to obtain fetal DNA for prenatal blood grouping present a risk to the fetus. During pregnancy, cell-free fetal DNA is present in maternal blood. The detection of RHD sequences in maternal plasma has been used to predict fetal D status, based on the assumption that RHD is absent in D-genomes.STUDY DESIGN AND METHODS: Real-time PCR assays were designed to distinguish RHD from RHDPsi (possessed by the majority of D- black Africans). Plasma-derived DNA from 137 D- women was subjected to real-time PCR to detect fetal RHD and Y chromosome-associated SRY sequences. The accuracy of RHD genotyping from maternal plasma was investigated by comparing results with those obtained by conventional RHD genotyping from fetal tissue or serologic tests on the infant's RBCs. The quantity of fetal DNA in maternal plasma was investigated in 94 pregnancies.RESULTS: Fetal D status was predicted with 100-percent accuracy from maternal plasma. The number of copies of fetal DNA in maternal plasma was found to increase with gestation.CONCLUSION: Combination of the sensitivity of real-time PCR with an improved RHD typing assay to distinguish RHD from RHDPsi enables highly accurate prediction of fetal D status from maternal plasma. This has resulted in the implementation of a clinical noninvasive fetal RHD genotyping service.