Inherited thrombophilia and recurrent pregnancy loss: a single-center case-control study in North-Western Algeria

Ilhem Nassour-Mokhtari,Reda Bettioui,Amaria Aouar,Hafida Merzouk,Bouchra Loukidi,Abdellatif Moussouni,Katia Allal-Taouli,Riad Benhabib

doi:10.1186/s43042-020-00077-1

Abstract

BackgroundRecurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophilia might increase the risk of RPL by adversely affecting the normal placental vascular function. Our study aimed to determine the frequency of factor V Leiden (FVL) and prothrombin G20210A gene mutations in Algerian women with RPL and to correlate their presence with the occurrence of such health’s problem. A total of 80 women with previous fetal losses and 100 age-matched women with no history of fetal loss were recorded. Participants were tested for activated protein C resistance (APCR), protein C (PC), protein S (PS), and antithrombin (AT) deficiencies. The screening of FVL and prothrombin G20210A mutations was also done using a duplex polymerase chain reaction.ResultsAPCR was detected in 6.25% of cases and was absent in controls (p = 0.011). PC and PS deficiencies were documented in 7.5% of patients. FVL was detected in 8.33% of patients and was absent in controls (p = 0.047). Prothrombin G20210A mutation was found in 8.33% of patients compared to 11.11% of controls (p = 0.631). A significant association of FVL mutation with the abortion which occurred in the second trimester was found (p = 0.001).ConclusionThere is a significant association between FVL mutation and RPL especially the loss occurring during the second trimester. No correlation was found regarding prothrombin G20210A mutation.

Highlights

Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women
Factors associated with thrombophilia include factor V Leiden (FVL) mutation, activated protein C resistance (APCR), prothrombin G20210A gene mutation, protein C (PC) deficiency, protein S (PS) deficiency, antithrombin III (AT III) deficiency, and endothelial cell dysfunction [11]
By comparing the results of the screening tests between case and control groups, no significant difference has been found in the following parameters: activated partial thromboplastin time (APTT) (p = 0.051), fibrinogen (p = 0.275), and prothrombin (p = 0.434); the difference was statistically significant concerning prothrombin time (PT) (p = 0.024) and APCR (p = 0.011) (Table 4)

Summary

Introduction

Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophiliа is defined as a predisposition to arterial or venous thrombotic complications as a result of hemostatic system defects [7]. It may be acquired, like the antiphospholipid syndrome, or inherited [8]. Factors associated with thrombophilia include factor V Leiden (FVL) mutation, activated protein C resistance (APCR), prothrombin G20210A gene mutation, protein C (PC) deficiency, protein S (PS) deficiency, antithrombin III (AT III) deficiency, and endothelial cell dysfunction [11]

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