Rouillac-Le Sciellour Christelle, Puillandre Philippe, Gillot Rolande, Baulard Céline, Métral Sylvain, Le Van Kim Caroline, Cartron Jean-Pierre, Colin Yves, Brossard Yves
Perinatal Hemobiology National Reference Centre (CNRHP), Hôpital Saint-Antoine, Paris, France.
Mol Diagn. 2004;8(1):23-31. doi: 10.1007/BF03260044.
The routine prenatal determination of fetal RhD blood group would be very useful in the management of pregnancies in RhD-negative women, as up to 40% of these pregnancies bear a RhD-negative fetus. The fetal DNA present in maternal plasma offers an opportunity for risk-free prenatal diagnosis.
This study focused on the feasibility and accuracy of large-scale RhD fetal diagnosis in non-immunized and anti-D immunized RhD-negative women.
Plasma DNA was extracted from 893 RhD-negative pregnant women and amplified in exons 7 and 10 of the RHD gene using conventional and real-time PCR. The results were then compared with the RHD fetal genotype determined on amniotic cells and/or the RhD phenotype of the red blood cells of the infants at birth.
After exclusion of 42 samples from women exhibiting a nonfunctional or rearranged RHD gene, fetal RhD status was predicted with a 99.5% accuracy. A strategy is also proposed to avoid the small number of false-positive and -negative results.
Fetal RHD genotyping from maternal plasma DNA in different clinical situations may be used with confidence.
常规产前测定胎儿RhD血型对RhD阴性女性的妊娠管理非常有用，因为这些妊娠中高达40%怀有RhD阴性胎儿。母体血浆中存在的胎儿DNA为无风险的产前诊断提供了机会。
本研究聚焦于在未免疫和抗D免疫的RhD阴性女性中进行大规模RhD胎儿诊断的可行性和准确性。
从893名RhD阴性孕妇中提取血浆DNA，并使用常规PCR和实时PCR对RHD基因的第7和第10外显子进行扩增。然后将结果与通过羊水细胞测定的RHD胎儿基因型和/或婴儿出生时红细胞的RhD表型进行比较。
在排除42例RHD基因无功能或重排女性的样本后，预测胎儿RhD状态的准确率为99.5%。还提出了一种策略以避免少量假阳性和假阴性结果。
在不同临床情况下，基于母体血浆DNA进行胎儿RHD基因分型可放心使用。
