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Introduction
Recurrent pregnancy loss (RPL), defned as the loss of three
or more consecutive pregnancies, affects 1% of couples trying
to conceive. It has been estimated that 1–2% of second-trimester
pregnancies miscarry before 24weeks of gestation.
1
Recurrent
pregnancy loss (RPL) is caused by various genetic and non-genetic
factors. After chromosome abnormality, thrombophilia is one of the
most important genetic factors that could cause RPL. Factor V Leiden
and factor II G20210A mutation were the most common cause of
thrombophilia in the world.
2
Factor V is one of the essential clotting
factors in the coagulation cascade. Its active form, factor Va, acts as a
cofactor allowing factor X to stimulate the conversion of prothrombin
to thrombin. Activated protein C is a natural anticoagulant it limits
the extent of clotting by destroying factor V and reducing further
thrombin formation. Heterozygosity for a mutation in the coagulation
factor V gene leads to resistance to activated protein C and represents
the most common cause of inherited thrombophilia.
3
Recently several
studies have suggested that FVL mutation, through the production of
micro thrombosis on placental bed blood vessels, causes low placental
perfusion, placental infarction, and is strongly associated with RPL and
maternal and fetal complications.
4
Some studies have demonstrated
an association between recurrent pregnancy loss and prothrombotic
states rendered by some genetic single nucleotide polymorphisms of
factor V Leiden G1691A.
2,5‒7
Etiology is determined in approximately
50% of couples with RPL. Most of the diagnosed etiologies include
endocrine abnormalities, autoimmune disorders, uterine anomalies,
and genetic factors. Still, 50% of couples have no known etiology.
8
The aim of the current study was to correlate heterozygosity of
maternal factor V G1691A (Leiden) and relationship with times of
pregnancy loss among unexplained recurrent pregnancy loss.
Materials and methods
Ethical approval was obtained from Omdurman Maternal hospital
Informed consent was obtained from all patients. Genomic DNA
samples of 195 Sudanese women who recruited and followed at
Omdurman Maternal hospital were screened from Aug 2012 to Dec
2014. Hundred females had a history of RPL and were considered the
cases and they were compared to 95 healthy reproductive Sudanese
women, as control group, who had a history of two or more successful
live births. Cases and controls were tested for the FV Leiden G1691A
and FII G20210A. Genomic DNA was extracted from 3–5ml of EDTA
anti-coagulated blood by salting
9
using Master pure DNA purifcation
Hematol Transfus Int J. 2018;6(5):208‒210. 208
© 2018 Babker et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which
permits unrestricted use, distribution, and build upon your work non-commercially.
Heterozygosity of maternal factor V G1691A
(Leiden) and relationship with times of pregnancy
loss among unexplained recurrent pregnancy loss
women
Volume 6 Issue 5 - 2018
Asaad MA Babker,
1
Fath Elrahman Mahdi
Hassan Gameel,
2
Salaheldein G Elzaki
3
1
Department of Medical Laboratories Science, Gulf Medical
University, UAE
2
College of applied medical science, Imam Abdulrahman Bin
Faisal University, Saudi Arabia
3
Department of Epidemiology, Tropical Medicine Research
Institute, Sudan
Correspondence: Asaad MA Babker, Department of Medical
Laboratories Science, College of Health Science, Gulf Medical
University, Ajman, UAE, Email
Received: August 30, 2018 | Published: October 29, 2018
Abstract
Background: Recurrent pregnancy loss is defined by the consecutive loss of two or
more pregnancies with the same partner. Recurrent pregnancy loss (RPL) or recurrent
miscarriage (RM) affects from 1-5% of the reproductive age couples. This diagnosis
is both emotionally challenging and confusing for most couples, as the definitive
diagnosis using conventional evaluations is found in fewer than half of the couples
experiencing repeated loss. The aim of this study was to evaluate the inherited
heterozygosity of factor five Leiden (FVL) G1691A and Its relation to the time of
recurrent spontaneous pregnancy loss.
Materials and methods: Retrospective case- control study, in which women with
RPL were compared to healthy women without any evidence of spontaneous abortion.
This study was undertaken at Omdurman maternity hospital in Khartoum state, Sudan.
The case group consisted of one hundred women who experienced at least three or
more consecutive recurrent spontaneous pregnancy loss that occurred before 20 weeks
of gestation and the control group consisted of ninety five healthy women without any
history of adverse pregnancy outcome.Questionnaire and direct interview were used to
collect information. Genotyping was based on polymerase chain reaction. Data were
entered and analyzed by SPSS program version 17.0.
Result: Heterozygosity for FVL alleles G/A was 8.0% in all cases and 6.4% was found
in control group. Related to association with time of recurrent pregnancy loss our
result shows three times (37.5%), four times (50.0%) and five times (12.5%).
Conclusion: Heterozygosity of FV Leiden G1691A could be one reason for recurrent
pregnancy loss and pregnancy complications among women with unexplained
pregnancy loss. Our study showed that there is an association between heterozygosity
for FVL G1691A and time of recurrent pregnancy loss.
Keywords: factor V leiden, G1691A, pregnancy loss, heterozygosity, RPL, protein
C
Hematology & Transfusion International Journal
Research Article
Open Access