Chromosomal abnormalities of embryos as a major factor recurrent spontaneous abortion after artificial and natural fertilization
DOI:
https://doi.org/10.18370/2309-4117.2016.27.48-51Keywords:
chromosomal abnormalities, embryo, spontaneous abortion, in vitro fertilization, natural fertilizationAbstract
Chromosomal abnormalities are the most common causes of abortion in the first trimester. Most miscarriages in this term of pregnancy are due to aneuploidy, the frequency of which is 50–80%. Autosomal trisomy is the most common chromosomal abnormalities.
The aim of the study was to investigate chromosomal abnormalities of abortive material in women with recurrent spontaneous abortion after in vitro fertilization and after natural fertilization.
Cytogenetic and molecular cytogenetic studies include 440 samples of chorionic villi from women with recurrent miscarriage, among whom 240 patient had the pregnancy in IVF cycles (group I) and 200 women had a naturally way pregnancy (group II). The average age of patients was 33 years.
Spectral karyotyping by fluorescent hybridization in situ on interphase nuclei of chorionic villi cells was performed with direct hybridization labeled with fluorescent dyes DNA probes.
Results of cytogenetic and molecular cytogenetic studies showed that 43.33% abortions after IVF and 65.00% ones following natural conception had an abnormal karyotype, including autosomal trisomies respectively 35.00% and 42.00%; disomy X – 1.25% and 0.50%; monosomy X – 2.08% and 3.0%; monosomy 21 – 0.83% and 0.50%; polyploidy – 2.92% and 13.00%; structural chromosomal abnormalities – 0.83% and 4.0%; marker chromosome – 0.42% and 1.00%.
Cytogenetic study of chorionic villi in recurrent spontaneous abortion is an integral part of the diagnostic evaluation. If at the cytogenetic study a spontaneous chromosomal anomaly detected, the next pregnancy proposed planning without a more detailed genetic examination. If a hereditary chromosomal anomaly, it is assessed the risk of its occurrence during the next pregnancy, carried out medical and genetic counseling.
An artificial insemination with controlled selection of sperm and embryos in women with recurrent miscarriage history leads to a smaller number of chromosomal abnormalities in the embryo than in miscarriages after natural conception.
References
- Bochkov, N.P., Puzirev, V.P., Smirnikhina, S.A. Clinical Genetics, 4th ed. Moscow. GEOTAR Media (2011): 544 p.
- Hereditary diseases: national guideline / Ed. by N.P. Bochkov, E.K. Ginter, V.P. Puzirev. Moscow. GEOTAR Media (2012): 936 p.
- Stovbun, G.V. Predicting the risk of fetal chromosomal abnormalities and subsequent miscarriage in patients after in vitro fertilization. Thesis abstract on competition of a scientific degree of candidate of medical sciences, specialization 14.01.01 “Obstetrics and Gynecology”. Kyiv (2009): 21 p.
- Tkach, I.R., Huleiuk, N.L., Sedneva, I.A., Bezkorovaina, G.M. “Cytogenetic analysis of chorionic villi 145 samples derived from spontaneous abortion and pregnancy fading.“ / Program and materials from XII Ukrainian scientific conference of students and young scientists “Biological research of young scientists in Ukraine.” Kyiv (2012): 48.
- Al-Achkar, W., Moassass, F., Al-Ablog, A., et al. “Аberration leads to recurrent pregnancy loss and partial trisomy of 5p12-15.3 in the offspring: report of a Syrian couple and review of the literature.” Zhonghua Nan Ke Xue 21.3 (2015): 219–24.
- Baranov, V.S., Lebedev, V.M., Poleev, A.V., et al. “Fast direct method of obtaining metaphase and prometaphase chromosomes from chorion biopsy cells and human embryos during the lst trimester of pregnancy.” Biull Eksp Biol Med 110.8 (1990): 196–98.
- Bingol, B., Abike, F., Gedikbasi, A., Tapisiz, O.L., Gunenc, Z.
- “Comparison of chromosomal abnormality rates in ICSI for nonmale
- factor and spontaneous conception.“ J Assist Reprod Genet
- 1 (2012): 25–30. DOI: 10.1007/s10815-011-9646-1
- Bloise, E., Feuer, S.K., Rinaudo, P.F. “Comparative intrauterine development and placental function of ART concepti: implications for human reproductive medicine and animal breeding.” Hum Reprod Update 20.6 (2014): 822–39. DOI: 10.1093/humupd/dmu032
- Simons, A., Shaffer, L.G., Hastings, R.J. “Cytogenetic Nomenclature: Changes in the ISCN 2013. Compared to the 2009 Edition.” Cytogenet Genome Res 141.1 (2013): 1–6. DOI: 10.1159/000353118
- Dutta, U.R., Rajitha, P., Pidugu, V.K., Dalal, A.B. “Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in southern region of India: report and review.” J Assist Reprod Genet 28.2 (2011): 145–9.
- Ghazaey, S., Keify, F., Mirzaei, F., Maleki, M., et al. “Chromosomal analysis of couples with repeated spontaneous abortions in northeastern Іran.” Int J Fertil Steril 9.1 (2015): 47–54.
- Huijsdens-van Amsterdam, K., Barge-Schaapveld, D.Q., et al. “Prenatal diagnosis of a trisomy 7 / trisomy 13 mosaicism.” Mol Cytogenet 5 (2012): 8.
- Hyde, K.J., Schust, D.J. “Genetic considerations in recurrent pregnancy loss.” Cold Spring Harb Perspect Med 5.3 (2015): a023119. DOI: 10.1101/cshperspect.a023119
- Jia, C.W., Wang, L., Lan, Y.L,. Song, R., Zhou, L.Y., et al. “Aneuploidy in Early Miscarriage and its Related Factors.” Chin Med J (Engl) 128.20 (2015): 2772–6. DOI: 10.4103/0366-6999.167352
- Maslow, B.S., Budinetz, T., Sueldo, C., et al. “Single-Nucleotide Polymorphism-Microarray Ploidy Analysis of Paraffin-Embedded Products of Conception in Recurrent Pregnancy Loss Evaluations.” Obstet Gynecol 126.1 (2015): 175–81. DOI: 10.1097/AOG.0000000000000904
- Rabiega-Gmyrek, D., Olejniczak, T., Niepsuj-Biniaś, J., et al. “Chromosomal aberrations-the cause of spontaneous abortions.” Ginekol Pol 86.5 (2015): 357–61.
- Romero, R., Kusanovic, J.P., Chaiworapongsa, T., Hassan S.S. “Placental bed disorders in preterm labor, preterm PROM, spontaneous abortion and abruptio placentae.” Best Pract Res Clin Obstet Gynaecol 25.3 (2011): 313–27. DOI: 10.1016/j.bpobgyn.2011.02.006
- ISCN: An International System for Human Cytogenetic Nomenclature (2013). Recommendations of International Standing Committee on Human Cytogenetic Nomenclature / Ed. by L.G. Shaffer, J. McGowan-Jordan, M. Schmid. Karger Publishers (2013).
- Subramaniyam, S., Pulijaal, V.R., Mathew, S. “Double and multiple chromosomal aneuploidies in spontaneous abortions: A single institutional experience.” J Hum Reprod Sci 7.4 (2014): 262–8. DOI: 10.4103/0974-1208.147494
- Yakut, S.I., Toru, H.S., Çetin, Z., Özel, D., et al. “Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings.” Turk Patoloji Derg 31.2 (2015): 111–8. DOI: 10.5146/tjpath.2015.01303
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2016 K. P. Holovatiuk
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.