Minon J-M, Schaaps J-P, Retz M-C, Dricot J-F, Foidart J-M, Senterre J-M
Service de Biologie Clinique, CHR de la Citadelle, boulevard du 12e-de-Ligne-1, 4000 Liège, Belgique.
J Gynecol Obstet Biol Reprod (Paris). 2005 Sep;34(5):448-53. doi: 10.1016/s0368-2315(05)82852-2.
To evaluate the predictive value of RHD fetal genotype in maternal plasma of Rh D negative mothers after 10 weeks of gestation in a clinical use.
Prospective, comparative study between fetal RHD genotyping in maternal plasma, with amplification of exons 4,5,10 of the RHD gene, by real-time multiplex PCR, and Rh D serology at birth, in 218 pregnancy and their 223 babies, between November 2002 and 2004.
Combining the amplification of three exons, the concordance rate of fetal Rh D genotyping in maternal plasma and baby phenotyping at delivery was 100%. Four women whose the babies were Rh D negative were positive for RHD exon 10 during pregnancy. This positivity was, in three cases, correlated with the presence of RHDpsi pseudogene and in last case, with a haplotype Cdes (r's). RHD genotyping was performed for five twin pregnancies.
Multiplex PCR using maternal plasma provides perfect prenatal prediction of fetal RHD gene. These results confirm that this non invasive procedure is the preferred method for assessing Rh D fetal status in Rh negative mothers. Using this method for two years in routine practice has led us to modify our management scheme for sensitized Rh D-negative pregnant women.
评估妊娠10周后Rh D阴性母亲血浆中RHD胎儿基因型在临床应用中的预测价值。
2002年11月至2004年期间，对218例孕妇及其223例婴儿进行前瞻性比较研究，采用实时多重PCR扩增RHD基因的第4、5、10外显子，检测孕妇血浆中的胎儿RHD基因分型，并与出生时的Rh D血清学结果进行比较。
结合三个外显子的扩增，孕妇血浆中胎儿Rh D基因分型与分娩时婴儿表型的符合率为100%。有4名婴儿为Rh D阴性的妇女在孕期RHD第10外显子呈阳性。在3例中，这种阳性与RHDpsi假基因的存在相关，在最后1例中，与单倍型Cdes（r's）相关。对5例双胎妊娠进行了RHD基因分型。
利用孕妇血浆进行多重PCR可对胎儿RHD基因进行完美的产前预测。这些结果证实，这种非侵入性方法是评估Rh阴性母亲胎儿Rh D状态的首选方法。在常规实践中使用该方法两年后，我们对致敏Rh D阴性孕妇的管理方案进行了调整。
