Репродуктивная эндокринология (Jun 2017)

Incidence and spectrum of chromosomal abnormalities detected in married couples with early losses of pregnancy

  • М. П. Веропотвелян,
  • Л. Г. Шаповаленко,
  • О. С. Саваровська

DOI
https://doi.org/10.18370/2309-4117.2017.35.54-60
Journal volume & issue
no. 35
pp. 54 – 60

Abstract

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The aim of the study was to establish the incidence and spectrum of chromosomal abnormalities (CA) in married couples (MC) with sporadic and habitual early pregnancy losses (EPL) inhabiting south-east and central regions of Ukraine. Materials and methods: A cytogenetic study of 1869 women, 1788 men, and 1781 married couples (a total of 3657 individuals) with EPL was performed separately. Results: In 344 cases (9.4%), the patients’ karyotype contained various types of chromosomal rearrangements. Reciprocal translocations were found in 153 cases (48.3% of the total number of CA detected in women and men; in the case of couples with EPL the frequency of translocations was 4.1%), while in women – 84 (44.4% of all CA) cases, in men – 69 (44.5% of all CA), and in married couples – 6 (28.6%). Robertson’s translocations were found in 13 cases (9 in women and 4 in men), which amounted to 3.8% of all CA; their frequency in couples with EPL was 0.35%. Pericentric inversions were found in 159 cases (46.2% of the total number of CA), in couples with EPL their frequency made 4.3%, while in women – 82 (43.4% of all CA) cases and in men – 77 (49.7% of all CA). Pericentric inversion of chromosome 9 was detected in 65 cases, which is 40.89% of the total number of pericentric inversions and 18.89% of the total number of CA. Paracentric inversions in the karyotyped families with EPL are not detected by our study. Five cases with a mosaic karyotype of 45, Х/46, ХХ (1.5% of all CA), 4 cases with an isochromosome – 45,Х, i(Xq), 2 cases with a mosaic karyotype of polysomy in X (47, XXX / 46, XX), 3 cases of dysomia X – Klinefelter syndrome, 3 deletions of the terminal portion of short arm 46, X, del(X) (p21→pter). Conclusion: The frequency of CA in women with EPL was 8.5%, in men – 6.4%, and totally in all karyotyped parents – 7.5%, which does not differ from the incidence of CA in couples who have miscarried in other populations.

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