Avent Neil D
Plymouth University Peninsula Schools of Medicine and Dentistry, Portland Square Building, Drake Circus, Plymouth, PL4 8AA, UK.
Expert Rev Hematol. 2014 Dec;7(6):741-5. doi: 10.1586/17474086.2014.970160. Epub 2014 Nov 6.
Incompatibility of red cell and platelet antigens can lead to maternal alloimmunization causing hemolytic disease of the fetus & newborn and fetal neonatal alloimmune thrombocytopenia respectively. As the molecular background of these polymorphisms emerged, prenatal testing using initially fetal DNA obtained from invasively obtained amniotic fluid or chorionic villus was implemented. This evolved into testing using maternal plasma as source of fetal DNA, and this is in routine use as a safe non-invasive diagnostic that has no risk to the fetus of alloimmunization or spontaneous miscarriage. These tests were initially applied to high risk pregnancies, but has been applied on a mass scale, to screen fetuses in D-negative pregnant populations as national screening programs. Fetal neonatal alloimmune thrombocytopenia management has had comparatively small take up in non-invasive testing for causative fetal platelet alleles (e.g., HPA-1A), but mass scale genotyping of mothers to identify at risk HPA-1b1b pregnancies and their treatment with prophylactic anti-HPA-1A is being considered in at least one country (Norway).
红细胞和血小板抗原的不相容性可分别导致母体同种免疫,进而引起胎儿和新生儿溶血病以及胎儿新生儿同种免疫性血小板减少症。随着这些多态性分子背景的出现,最初采用从侵入性获取的羊水或绒毛膜绒毛中获取的胎儿DNA进行产前检测得以实施。这逐渐发展为使用母体血浆作为胎儿DNA的来源进行检测,而这作为一种对胎儿无同种免疫或自然流产风险的安全非侵入性诊断方法已在常规使用。这些检测最初应用于高危妊娠,但目前已大规模应用于对D阴性孕妇群体中的胎儿进行筛查,作为国家筛查项目。胎儿新生儿同种免疫性血小板减少症的管理在针对致病胎儿血小板等位基因(如HPA-1A)的非侵入性检测中应用相对较少,但至少在一个国家(挪威),正在考虑对母亲进行大规模基因分型,以识别有风险的HPA-1b1b妊娠,并对其进行预防性抗HPA-1A治疗。