Inherited thrombophilias and cytogenetic findings in patients with repeated fetal loss
Authors:
R. Gaillyová 1; Z. Čech 2; M. Vilémová 1; Š. Prášilová 1; Z. Kalina 1; J. Šoukalová 1; A. Oltová 1; H. Višňová 3; M. Penka 2; P. Ventruba 3
Authors place of work:
Oddělení lékařské genetiky FN Brno
1; Oddělení klinické hematologie FN Brno
2; Gynekologicko-porodnická klinikaLF MU a FN Brno
3
Published in the journal:
Prakt Gyn 2005; 9(3): 9-12
Summary
Reproductive genetics is a part of reproductive medicine. As a part of preventive genetic examination in patients with repeated fetal loss we tested a karyotype in both partners, and G1691A Leiden mutation factor V, G20210A mutation factor II and the thermolabile variant of the methylentetrahdrofolate reductase gene in women. Carriers of balanced chromosomal aberrations have an increased risk of unbalanced aberrations in offsprings, and a risk of reproductive failures. Inherited thrombophilias are the leading cause of maternal thrombembolism and are associated with an increased risk of certain adverse pregnancy outcomes. These effects imply a link between the factor V-Leiden mutation and late first-, second- and third-trimester fetal losses. There are conflicting data on the link between hyperhomocysteinaemia caused by hetero- or homozygosity of the C677T MTHFR thermolabile mutation and recurrent spontaneous abortions. In our group we observed 207 pairs with repeated fetal loss. We found an increased number of carriers of congenital chromomal aberrations (most frequently mozaicism for X-aneuploidy in women, structural aberrations in men). We found an increased number of carriers of the factor V-Leiden mutation in women with more than 2 spontaneous abortions. We recommend testing a karyotype in both partners, and inherited thrombophilias in women with 2 and more repeated fetal loss, a hematological examination and pregnancy monitoring in women who are carriers of inherited thrombophilias. These tests can allow for individual pre-conceptions and prenatal care.
Key words:
repeated fetal loss, chromosomal aberration, inherited thrombophilias, genetic counselling
Zdroje
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Štítky
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicineČlánok vyšiel v časopise
Practical Gynecology
2005 Číslo 3
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