EUROMEDICA  Hanover 3-4  Juni 2010	Advanced methods of diagnosis, treatment and prophylactics
	European Academy of Natural Sciences, Hanover European Scientific Society, Hanover Berliner Medizinischen Gesellschaft, Berlin

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Because of its social significance, pregnancy loss syndrome is currently one of the most important problems in obstetrics. Several research works have established that some of allele polymorphic genes, responsible for increased blood coagulability, are associated with augmented thromboses and pregnancy loss syndrome risks.

The purpose of this study was to evaluate association between carriage of allele genes variants encoding factor V (Arg506Gln), factor II – prothrombin (20210 G/A), PAI-I (675 5G/4G) and MТHFR (Ala222Val) and reccurent pregnancy loss syndrome in women inhabitants of Altay Region in Russian Federation.

One hundred fifteen women (average age 28,6±1,4 years) with threatened abortion and complicated obstetric anamnesis (two or more early pregnancy losses, late pregnancy spontaneous abortions, preterm deliveries or antenatal fetal demise) without apparent gynecologic, infectious or endocrine pathology were examined.

In total, 217 pregnancies and 180 cases of reproductive losses were analyzed. Women with acquired variants of hematogenic thrombophilia as well as antiphospholipid syndrome were not included in this study.

Population data on carriage rate of these allele polymorphisms was established by genetic PCR testing carried out in 572 women inhabitants of Altay Region aged 12-15 (control group). It was found that 29% (n=166) of this group had some sort of genetically determined thrombophilia.

The incidence of single genetic anomaly revealed was 24,8% of women, most often encountered MTHFR polymorphism (0,7% homozygous and 12,9% heterozygous) and PAI-1 (4,2 and 9,3%). Factor V Leiden polymorphism was found in 1,6% (heterozygous), prothrombin gene polymorphism – 0,2% (heterozygous). Combination of two heterozygotes in MTHFR and PAI-1 was encountered in 4,2% of cases.

The incidence of allele polymorphisms in women with miscarriages was 83,4% (n=96), i.e. 3,4 times higher compared to control group. Women with fetal loss syndrome had the following carriage rates of polymorphisms: MTHFR genes (34,9%), PAI-1 (39,6%), factor V Leiden and prothrombine - 36,3% of cases for both mutations. Combination of different allele polymorphisms was found in 53 (46,1%) of women and was 11 times higher compared to corresponding value in control group. In particular, combination of two gene defects was present in 36,5% and three defects were found in 9,6% of patients.

Women with miscarriages had complicated thrombotic anamnesis in 28 (24,3%) of cases, including 2 with normozygous carriage, 11 (9,6%) with single genetic anomaly carriage, 8 (6,9%) with two genetic anomalies carriage and 7(6,1%) – with combination of three allele polymorphisms.

Complicated family thrombotic anamneses (myocardial infarctions, strokes, peripheral vessel thromboses) were encountered in 13% of cases if single allele polymorphism was found and in 19% if there were two or more anomalies.

These results indicate high informative value of examination for genetic thrombophilia in women seeking fetal loss syndrome prophylaxis.