Incidence and spectrum of chromosomal abnormalities detected in married couples with early losses of pregnancy
Keywords:early pregnancy losses, miscarriage, spontaneous abortions, missed miscarriage, married couples, chromosomal abnormalities
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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