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- 2022-02-17 发布于广东
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* 肝豆核变Wilsons disease maternal phenylketonuria, cyanotic heart disease, hematologic disorders [hemoglobinopathies or aplastic anemia], inflammatory bowel disease, neoplasia) * In 95% of the cases, APCR is caused by a point mutation (factor V Leiden). The presence of a family history of Leiden fac- tor V mutation is an indication for thrombophilia screening. How-ever, the results of these tests can be diffcult to interpret. Most experts agree that the presence of two thrombophilias or homozygosity for the Leiden factor V mutation are likely to contribute to a miscarriages such as the those in this case scenario. The diffculty arises when the patient is heterozygous for the Leiden factor V mutation due to the fact that 4% of the normal obstetric population are also heterozygous for Leiden factor V. Hence heterozy-gosity for Leiden factor V may not necessarily be a cause for these pregnancy losses. The most recent publications suggest that it is the fetal genome that determines the miscarriage risk, and it is the presence of Leiden factor V on the fetal side that is important. The implication of the fetal genome being the critical one in mis-carriage is that paternal thrombophilias may also be important. However, it is not considered cost-effective at present to test both parents for thrombophilas as this would be very expensive, and currently there are no proven treatments for improving pregnancy survival in cases of inherited thrombophilas Some preliminary studies suggest that anticoagulant medication may improve the chances of carrying pregnancy to term but these studies need to be confirmed before they are adopted in clinical practice. Note that many women with thrombophilia go through one or more pregnancies with no difficulties, while others may have pregnancy complications. Thrombophilia may explain up to 15% of recurrent miscarriages. Stratification bias 鼠实验表明由thrombophilic defects时致使子宫胎盘血管形成血栓。鼠胎盘滋养细胞表达一些glycoproteins 能促进组织因子或抑制血栓调节素(thro
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