Association of missed miscarriage and fetal chromosomal disorders

Abstract

Aim. To study the frequency of chromosomal disorders as a cause of missed miscarriage. Methods. 328 women aged 30,34±0,34 years with missed miscarriage at 3 to 22 weeks of gestation were examined. the missed miscarriage was diagnosed by ultrasonography and human chorionic gonadotropin blood level. Endometrectomy with further scrape cytogenic examination were preformed. The preparations for cytogenic examination were obtained by unified direct express-method, karyotyping was performed after the routine and differentiated staining. Results. Fetal karyotype was defined in 88 women. In 54 (61.4%) women, chorionic villi and placenta of miscarried fetuses had chromosome pathologies, in 34 (63%) women - at 1 st trimester, in 20 (37%) - at 2 nd trimester. High frequency of pathological karyotypes identification was observed in 29 (65,9%) women with first pregnancy, compared to 26 (59.1%) women with second and subsequent pregnancies. The following pathologies were found: autosomal trisomy - in 32 (59.3%) women, triploidy - in 8 (14.8%) women, X-chromosome monosomy - in 6 (11.1%) women, polyploidy - in 6 (11.1%), tetraploidy - in 2 (3.7%) women. It was the first missed miscarriage in 268 women (81.7% of cases), with 23 genetic anomalies found in 23 (52.3%) of such cases. In women with repeated missed miscarriage, fetal genetic disorders were revealed in 34 (77.1%) of cases. Female karyotype was found by 7,4% more frequent compared to male karyotype: 29 (53.7%) versus 25 (46.3%) cases. Fetuses with polysomy (double and triple trisomy) and triplody were eliminated at 5-6 weeks of gestation, fetuses with 22 chromosome trisomy at 6-7 weeks of gestation, with 18 chromosome trisomy - at 7-8 weeks of gestation, with X monosomy - at 8-9 weeks of gestation, with 16 chromosome trisomy - at 10-11 weeks of gestation. No relations of fetal karyotype mutations to maternal body mass index were revealed. Conclusion. High frequency of trisomy, as well as in the case of X-chromosome monosomy, points at high incidence and high percentage of autoelimination of the fetuses having this pathology. The presence of pathological karyotype is the reason for earlier pregnancy termination.

Keywords

missed miscarriage / fetal karyotype / chromosomal pathology / body mass index

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RIGHTS & PERMISSIONS

Spiridonova N.V., Kalinkina O.B., Gilmiyariova F.N., Meleshkina O.I.