Association of missed miscarriage and fetal chromosomal disorders
- Authors: Spiridonova NV1, Kalinkina OB1, Gilmiyariova FN1, Meleshkina OI2
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Affiliations:
- Samara State Medical University, Samara, Russia
- Clinical Hospital №5, Togliatti, Russia
- Issue: Vol 94, No 5 (2013)
- Pages: 748-751
- Section: Actual problems of biochemistry and laboratory diagnostics
- URL: https://journals.rcsi.science/kazanmedj/article/view/1935
- DOI: https://doi.org/10.17816/KMJ1935
- ID: 1935
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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.
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##article.viewOnOriginalSite##About the authors
N V Spiridonova
Samara State Medical University, Samara, Russia
O B Kalinkina
Samara State Medical University, Samara, Russia
Email: maiorof@mail.ru
F N Gilmiyariova
Samara State Medical University, Samara, Russia
O I Meleshkina
Clinical Hospital №5, Togliatti, Russia
References
- Бочков Н.П. Клиническая генетика. - М.: ГЭОТАР-МЕД, 2001. - 448 с.
- Доброхотова Ю.Э., Джобава Э.М., Озерова Р.И. Неразвивающаяся беременность: тромбофилические и клинико-иммунологические факторы. - М.: ГЭОТАР-Медиа, 2010. - 144 с.
- Радзинский В.Е., Оразмурадов А.А. Ранние сроки беременности. - М.: МИА, 2005. - 448 с.
- Сидельникова В.М. Привычная потеря беременности. - М.: Триада-X, 2005. - 304 с.
- Спиридонова Н.В., Буданова М.В., Гусякова О.А. и др. Метаболические аспекты невынашивания беременности у женщин с синдромом потери плода // Астрахан. мед. ж. - 2011. - Т. 6, №3. - С. 248-250.
- Стрижаков А.Н., Игнатко И.В. Потеря беременности. - М.: МИА, 2007. - 224 с.
- Bettio D.A., Levi V., Setti P.E. Chromosomal abnormalities in miscarriages after different assisted reproduction procedures // Placenta. - 2008. - Vol. 29. - P. 126-128.
- McKinlay R.J., Gardner G.R.S. Chromosome abnormalities and genetic counseling. - N.Y.: Oxford UniversityPress, 2004. - P. 25.
- Pflueger S.M.V. Cytogenetics of spontaneous abortions. The principles of clinical cytogenetics. - New Jersey: Humana Press, 2005. - P. 323-345.
- Schieve L.A., Tatham L., Peterson H.B. et al. Spontaneous abortion among pregnancies conceived using assisted reproductive technology in the United States // Obstet. Gynecol. - 2003. - Vol. 101,N 5. - P. 959-967.