Costa Jean-Marc, Giovangrandi Yves, Ernault Pauline, Lohmann Laurence, Nataf Valérie, El Halali Najua, Gautier Evelyne
Centre de Diagnostic Prénatal, American Hospital of Paris, Neuilly, France.
Br J Haematol. 2002 Oct;119(1):255-60. doi: 10.1046/j.1365-2141.2002.03780.x.
Fetal RHD genotype determination is useful in the management of sensitized RhD-negative pregnant women. It can be ascertained early during pregnancy by chorionic villus sampling (CVS) or amniocentesis. However, these procedures are invasive, resulting both in an increased risk of fetal loss and in an increased severity of immunization due to fetomaternal haemorrhage. A reliable determination of RHD genotype by fetal DNA analysis in maternal serum during the first trimester of pregnancy is reported in this study. One hundred and six sera from RhD-negative pregnant women were obtained during the first trimester of pregnancy. These sera were tested for the presence of RHD gene using a new real-time polymerase chain reaction assay and the results compared with those obtained later in pregnancy on amniotic fluid cells and by RHD serology of the new-born. All sera from women carrying a RhD-positive fetus (n = 62) gave positive results for RHD gene detection and sera from women carrying a RhD-negative fetus (n = 40) were negative. The high level of accuracy of fetal RHD genotyping obtained in this study could enable this technique to be offered on a routine basis for the management of RhD-negative patients during the first trimester of pregnancy.
胎儿RHD基因型测定对于致敏的RhD阴性孕妇的管理很有用。可在孕期早期通过绒毛取样（CVS）或羊膜腔穿刺术来确定。然而，这些操作具有侵入性，会导致胎儿丢失风险增加，并且由于母胎出血会使免疫反应的严重程度增加。本研究报道了在妊娠早期通过对母血清中的胎儿DNA进行分析来可靠地确定RHD基因型。在妊娠早期获取了106例RhD阴性孕妇的血清。使用一种新的实时聚合酶链反应测定法检测这些血清中RHD基因的存在，并将结果与妊娠后期羊水细胞检测结果以及新生儿的RHD血清学检测结果进行比较。所有怀有RhD阳性胎儿的妇女（n = 62）的血清RHD基因检测结果均为阳性，而怀有RhD阴性胎儿的妇女（n = 40）的血清检测结果为阴性。本研究中获得的胎儿RHD基因分型的高准确度可使该技术在妊娠早期作为常规方法用于RhD阴性患者的管理。
