遗传性血栓形成倾向对复发性妊娠丢失的影响：一项回顾性队列研究。

The effect of hereditary thrombophilia on recurrent pregnancy loss: a retrospective cohort study.

机构信息

Division of Perinatology, Department of Obstetrics and Gynecology, Antalya Training and Research Hospital, Antalya, Turkey.

Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University Medical Faculty, Ankara, Turkey.

出版信息

BMC Pregnancy Childbirth. 2024 Nov 4;24(1):719. doi: 10.1186/s12884-024-06926-w.

DOI:10.1186/s12884-024-06926-w

PMID:39497077

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11536592/

Abstract

OBJECTIVE

Thrombophilia screening has been performed in patients with conditions such as previous fetal death, (fetal growth restriction) FGR, preeclampsia, (hemolysis. elevated liver enzyme, low platelet count) HELLP Syndrome, previous abruptio placentae, previous thrombosis in pregnancy, and abnormal placental histology. The actual role of hereditary thrombophilia in recurrent pregnancy loss (RPL) is still debated. This study was intended to determine the incidence of specific gene defects for hereditary thrombophilia and to ascertain their impact on RPL in central Anatolia in Turkey.

METHODS

This retrospective cohort study was performed between January 2012 and December 2022. All pregnant women with a complete hereditary screening profile were included. The investigated gene polymorphisms were methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, Factor V Leiden G1691A, and Factor II prothrombin G20210A. Cases of pregnant women at least two or more consecutive pregnancy losses before 22 weeks of gestation were defined as RPL. The rates of genetic screening and their association with RPL were analyzed.

RESULTS

RPL was identified in 224 (27.58%) of the 812 pregnant women with complete genetic screening. Although there was no difference in terms of age, body mass index, numbers of ectopic pregnancies, molar pregnancies, or dilatation & curettage (p > 0.05), gravity (2.0 [2.0-3.0] vs. 4.0 [3.0-5.0]), parity (1.0 [1.0-2.0] vs. 1.0 [0-1.0]), live birth (1.0 [1.0-2.0] vs. 1.0 [0-1.0]), anembryonic pregnancy (0 [0-0] vs. 0 [0-0]), miscarriage (0 [0-1.0] vs. 3.0 [2.0-3.0]), and stillbirth (0 [0-0] vs. 0 [0-0]) numbers differed significantly between the groups (p < 0.05). While no significant differences were determined in MTHFR A1298C, Factor V Leiden, factor II prothrombin G20210A, or homocysteine levels (p > 0.05), the homozygous MTHFR C677T positivity rates differed significantly (6.3% in the non-RPL group vs. 11.6% in the RPL group, p = 0.027) .

CONCLUSION

The homozygous MTHFR C677T polymorphisms was found to be more frequent in women with RPL. Further studies with larger cohorts are needed to confirm our results.

摘要

目的

在曾有胎儿死亡、（胎儿生长受限）FGR、子痫前期、（溶血、肝酶升高、血小板减少）HELLP 综合征、前置胎盘、妊娠血栓形成和胎盘组织学异常等病史的患者中，已经进行了血栓形成倾向筛查。遗传性血栓形成倾向在复发性妊娠丢失（RPL）中的实际作用仍存在争议。本研究旨在确定遗传性血栓形成倾向的特定基因突变的发生率，并确定其在土耳其中安纳托利亚地区对 RPL 的影响。

方法

本回顾性队列研究于 2012 年 1 月至 2022 年 12 月进行。所有具有完整遗传性筛查特征的孕妇均被纳入研究。研究的基因突变包括亚甲基四氢叶酸还原酶（MTHFR）C677T、MTHFR A1298C、因子 V 莱顿 G1691A 和因子 II 凝血酶原 G20210A。至少有两次或两次以上妊娠 22 周前连续流产的孕妇被定义为 RPL。分析了基因筛查的比例及其与 RPL 的相关性。

结果

在 812 名具有完整基因筛查的孕妇中，有 224 名（27.58%）被诊断为 RPL。虽然年龄、体重指数、异位妊娠、葡萄胎或刮宫术（p>0.05）、胎儿数（2.0[2.0-3.0]与 4.0[3.0-5.0]）、产次（1.0[1.0-2.0]与 1.0[0-1.0]）、活产数（1.0[1.0-2.0]与 1.0[0-1.0]）、空孕囊（0[0-0]与 0[0-0]）、流产数（0[0-1.0]与 3.0[2.0-3.0]）和死产数（0[0-0]与 0[0-0]）无显著差异（p<0.05）。然而，MTHFR A1298C、因子 V 莱顿、因子 II 凝血酶原 G20210A 或同型半胱氨酸水平无显著差异（p>0.05），但纯合子 MTHFR C677T 阳性率有显著差异（非 RPL 组 6.3%，RPL 组 11.6%，p=0.027）。