Spence W C, Potter P, Maddalena A, Demers D B, Bick D P
Genetics & IVF Institute, Fairfax, Virginia, USA.
Obstet Gynecol. 1995 Oct;86(4 Pt 2):670-2. doi: 10.1016/0029-7844(95)00093-7.
Maternal antibodies to RhE may cause severe hemolytic disease. Based on recent RhD and RhCE sequence information, we have developed a DNA-based testing methodology to determine the RhEe genotype of fetuses at risk for RhE hemolytic disease from amniotic fluid (AF) or chorionic villus samples.
RhEe testing was undertaken in a fetus at risk for RhE hemolytic disease. Maternal serum anti-E titers had risen between 12-15 weeks' gestation. Optical density (OD450) AF readings also rose slightly between 22-24 weeks' gestation. Both maternal serum titers and AF bilirubin measurements provided early indications that the fetus might have the RhE antigen. Using amniotic cells obtained at the first amniocentesis, DNA was extracted and analyzed for the RhE gene sequence. The use of two primer pairs from distinct sites in the RhCE gene, plus analysis of parental DNA, greatly minimized the possibility of false results. The fetus was determined to be Rhe/Rhe by molecular analysis. The DNA result was confirmed by serologic typing at birth.
DNA-based RhEe genotyping of at-risk fetuses provides accurate and timely information that is useful in the management of RhE-sensitized pregnancies.
母亲体内的抗RhE抗体可能导致严重的溶血病。基于最近的RhD和RhCE序列信息，我们开发了一种基于DNA的检测方法，用于确定羊水（AF）或绒毛膜绒毛样本中患RhE溶血病风险胎儿的RhEe基因型。
对一名患RhE溶血病风险胎儿进行了RhEe检测。母亲血清抗E效价在妊娠12至15周期间升高。AF的光密度（OD450）读数在妊娠22至24周期间也略有上升。母亲血清效价和AF胆红素测量均提供了早期迹象，表明胎儿可能具有RhE抗原。使用首次羊膜穿刺术获得的羊水细胞，提取DNA并分析RhE基因序列。使用来自RhCE基因不同位点的两对引物，加上对父母DNA的分析，极大地降低了出现假结果的可能性。通过分子分析确定胎儿为Rhe/Rhe。出生时的血清学分型证实了DNA结果。
对有风险胎儿进行基于DNA的RhEe基因分型可提供准确及时的信息，有助于管理RhE致敏妊娠。
