Combined thrombophilic mutations in women with unexplained recurrent miscarriage.
OBJECTIVE
To compare the prevalence of five common thrombophilic polymorphisms and their combination in women with recurrent miscarriage and a control group.


METHODS
Genomic analysis using polymerase chain reaction (PCR) was carried out in patients with two or more miscarriages and controls for Factor V Leiden, Factor V A1299H (HR2), Factor II G20210A, MTHFR C677T and MTHFR A1298C. Secondary analyses were made for number of miscarriages and gestational age at miscarriage.


RESULTS
None the mutations was associated with significantly increased risk for recurrent miscarriage. The prevalence of combined thrombophilias (4/88 versus 2/88) did not increase the risk for miscarriage (OR 2.04, 95% CI 0.36-11.47). Although virtually all patients with thrombophilia had miscarriages<or=10 weeks, statistical significance was not reached due to the small size of the >10 weeks' subgroup. There was no difference in the distribution of Factor V Leiden (P=1.000), FII G20210A (P=0.652), and MTHFR C677T (P=0.869) between patients with two and three or more miscarriages, whereas MTHFR A1298C was more common among patients with two miscarriages (P=0.017).


CONCLUSIONS
Combinations of the five thrombophilic mutations studied are an uncommon event with heterogeneous pattern and they do not significantly increase the risk for miscarriage.
Sotiriadis
Alexandros
A
Department of Obstetrics and Gynecology, University Hospital of Ioannina, Ioannina, Greece. asotir@gmail.com
Vartholomatos
George
G
Pavlou
Matthaios
M
Kolaitis
Nicolaos
N
Dova
Leucothea
L
Stefos
Theodor
T
Paraskevaidis
Evangelos
E
Kalantaridou
Sophia N
SN
D000026:Abortion, Habitual / Q000097:blood / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000097:blood / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)