Avent N D
International Blood Group Reference Laboratory, Southmead, Bristol, UK.
Vox Sang. 1998;74 Suppl 2:365-74. doi: 10.1111/j.1423-0410.1998.tb05444.x.
Antenatal genotyping of the fetus is now in widespread use as an aid to the clinical management in cases where there is the potential of haemolytic disease of the newborn occurring. The rapid diagnosis of an antigen-negative fetus will preclude the requirement for further, potentially risky invasive procedures being performed, whilst the determination of an antigen-positive fetus allows the potential of intensifying obstetric care for this pregnancy. Molecular genotyping is a major clinical application which has led from the determination of the molecular bases of blood group antigens expressed, most of which have been defined at the level of the gene. All assays used are dependent on the Polymerase Chain Reaction amplification of fetal DNA derived from either amniotic fluid or chorionic villi. Recent work has explored the potential of utilising fetal cells found to be present in maternal peripheral blood as a source of nucleic acid for prenatal diagnosis. Using non-invasive methods will preclude exposing mother and fetus to the potential hazards of invasive methods (amniocentesis, chorionic villus sampling and cordocentesis) which include miscarriage, fetal malformations and further maternal alloimmunisation.
胎儿产前基因分型目前已广泛应用，以辅助有可能发生新生儿溶血病的临床管理。快速诊断出抗原阴性胎儿可避免进行进一步有潜在风险的侵入性操作，而确定抗原阳性胎儿则可加强对该妊娠的产科护理。分子基因分型是一项主要的临床应用，它源于对所表达血型抗原分子基础的测定，其中大多数已在基因水平上明确。所有使用的检测方法都依赖于对来自羊水或绒毛膜绒毛的胎儿DNA进行聚合酶链反应扩增。最近的研究探索了利用母体外周血中发现的胎儿细胞作为产前诊断核酸来源的潜力。使用非侵入性方法可避免母亲和胎儿面临侵入性方法（羊膜穿刺术、绒毛取样和脐血穿刺术）的潜在风险，这些风险包括流产、胎儿畸形和母亲进一步的同种免疫。
