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特定遗传性易栓症的胎儿基因型与重度子痫前期无关。

Fetal genotype for specific inherited thrombophilias is not associated with severe preeclampsia.

作者信息

Stanley-Christian Heather, Ghidini Alessandro, Sacher Ronald, Shemirani Manijeh

机构信息

Department of Obstetrics and Gynecology, Georgetown University Hospital, Washington, DC, USA.

出版信息

J Soc Gynecol Investig. 2005 Apr;12(3):198-201. doi: 10.1016/j.jsgi.2004.11.001.

Abstract

OBJECTIVE

Little is known about the association between fetal thrombophilias and severe preeclampsia. The objective of this study was to examine the association between fetal genotype for factor V Leiden, prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations and severe preeclampsia.

METHODS

Patients with severe preeclampsia or HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome admitted to Georgetown University Hospital were retrospectively identified. Controls were patients with uncomplicated, term deliveries. Fetal DNA was extracted from placental specimens and amplified by polymerase chain reaction (PCR) with locus-specific primers. The presence of polymorphisms was determined by enzymatic digestion with specific enzymes, and analyzed by polyacrylamide gels. Statistical analysis used Student t test for continuous variables and Fisher exact test for categorical data.

RESULTS

Patients with preeclampsia (n = 27) and controls (n = 17) were similar for maternal age, but, as expected, they were significantly different for gestational age at delivery, birth weight, Apgar scores at 5 minutes, rate of preterm delivery less than 37 weeks, and fetal growth restriction (all P <.05). DNA extraction was successful in 25 of 27 cases from the severe preeclampsia group and 14 of 17 controls. None of the placentas analyzed in the preeclamptic or control group revealed mutations in the factor V Leiden or prothrombin genes. There was no significant difference in the rate of fetuses heterozygous for MTHFR in the preeclampsia versus control group (48% vs 43%, P >.05).

CONCLUSION

In our study, fetal genotype for specific inherited thrombophilias does not appear to be associated with severe preeclampsia.

摘要

目的

关于胎儿血栓形成倾向与重度子痫前期之间的关联,目前所知甚少。本研究的目的是探讨因子V莱顿突变、凝血酶原和亚甲基四氢叶酸还原酶(MTHFR)突变的胎儿基因型与重度子痫前期之间的关联。

方法

对入住乔治敦大学医院的重度子痫前期或HELLP(溶血、肝酶升高、血小板减少)综合征患者进行回顾性识别。对照组为无并发症的足月分娩患者。从胎盘标本中提取胎儿DNA,并使用位点特异性引物通过聚合酶链反应(PCR)进行扩增。通过用特定酶进行酶切来确定多态性的存在,并通过聚丙烯酰胺凝胶进行分析。连续变量的统计分析采用Student t检验,分类数据采用Fisher精确检验。

结果

子痫前期患者(n = 27)和对照组(n = 17)的产妇年龄相似,但正如预期的那样,她们在分娩时的孕周、出生体重、5分钟时的阿氏评分、小于37周的早产率和胎儿生长受限方面存在显著差异(所有P <.05)。重度子痫前期组27例中有25例成功提取DNA,对照组17例中有14例成功提取。子痫前期组或对照组分析的所有胎盘均未发现因子V莱顿或凝血酶原基因的突变。子痫前期组与对照组中MTHFR杂合子胎儿的比例无显著差异(48%对43%,P >.05)。

结论

在我们的研究中,特定遗传性血栓形成倾向的胎儿基因型似乎与重度子痫前期无关。

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