Wautier J L, Gruel Y
Baillieres Clin Haematol. 1989 Jul;2(3):569-83. doi: 10.1016/s0950-3536(89)80034-4.
The antenatal diagnosis of platelet disorders represents real progress in the early detection of haemorrhagic diseases occurring in the fetus. However, the diagnosis is only possible in some cases during the first trimester of gestation, and not in the first weeks as is the case for other hereditary disorders such as abnormal haemoglobins. This delay can be reduced now that the molecular abnormalities responsible for some platelet disorders have been discovered. If the region of chromosome 17 and the DNA sequence coding for the glycoproteins GP IIb-IIIa were known, this would make possible the recognition of the gene defect responsible for Glanzmann's thrombasthenia. This could also permit the diagnosis of Glanzmann's thrombasthenia at the gene level, i.e. during the first weeks of gestation. However, the use of gene markers could be limited by the fact that a monomorphic clinical expression of Glanzmann's thrombasthenia could correspond to different genetic mutations which can all result in a defect in GP IIb-IIIa synthesis and assembly. If such diagnosis could be made very early, it would only represent real progress if a specific treatment could be applied. New therapeutic approaches to immune thrombocytopenia during pregnancy appear to be possible and can be applied when there is a risk to the fetus, they are still either experimental or anecdotal and there is a real need for a well-designed clinical trial. In all fetal platelet disorders, the risk of fetal death following fetal blood sampling must not be underestimated and very careful, intensive care is necessary after such an investigation. In the absence of a specific therapy, this antenatal diagnosis must be restricted to cases in which the risk of severe haemorrhagic complications are anticipated and where there is a well-documented family history. The patients must be properly informed of all the aspects of the investigation, including the possible risks. As has been the case for other haematological disorders, progress will be made, and we can anticipate that eventually in utero bone-marrow transplantation or gene correction be performed to cure the disease before birth.
血小板疾病的产前诊断代表了胎儿出血性疾病早期检测方面的真正进展。然而，这种诊断仅在妊娠头三个月的某些情况下才有可能，不像其他遗传性疾病（如异常血红蛋白）在妊娠头几周就能诊断。由于已经发现了导致某些血小板疾病的分子异常，这种延迟现在可以缩短。如果已知17号染色体区域以及编码糖蛋白GP IIb-IIIa的DNA序列，那么就有可能识别出导致Glanzmann血小板无力症的基因缺陷。这也能够在基因水平上诊断Glanzmann血小板无力症，即在妊娠头几周。然而，基因标记的使用可能会受到限制，因为Glanzmann血小板无力症的单一临床表型可能对应不同的基因突变，这些突变都可能导致GP IIb-IIIa合成和组装缺陷。如果能在很早的时候做出这样的诊断，只有在能够应用特定治疗方法的情况下才代表真正的进展。妊娠期免疫性血小板减少症的新治疗方法似乎是可行的，并且在对胎儿有风险时可以应用，但这些方法仍处于实验阶段或仅有个别案例报道，非常需要进行精心设计的临床试验。在所有胎儿血小板疾病中，胎儿采血后胎儿死亡的风险绝不能被低估，在这样的检查后必须进行非常仔细、强化的护理。在没有特定治疗方法的情况下，这种产前诊断必须仅限于预计有严重出血并发症风险且有充分记录的家族病史的病例。必须让患者充分了解检查的所有方面，包括可能的风险。正如其他血液系统疾病的情况一样，将会取得进展，我们可以预期最终能够在子宫内进行骨髓移植或基因矫正以在出生前治愈疾病。
