Cytogenetic analysis of abortion material from women with missed miscarriages
Objective: To investigate whether chromosomal abnormalities (CA) in abortive material are associated with the age of patients with missed miscarriage (MM), the type of pregnancy, and gestational age at which missed miscarriage was diagnosed.Shilova N.V., Skorik E.O., Chepurnaya A.I., Ermakova A.D., Voskoboeva E.Yu., Yamandi T.A., Krasnopolskaya K.V.
Materials and methods: We retrospectively analyzed the findings of cytogenetic analysis of abortive material from women with MM (n=1487, mean age 33.4 (5.5)), carried out in the GEN-LAB laboratory from 2017 to 2021. Cytogenetic analysis of the abortive material was performed after tissue cultivation according to the standard method. Statistical analysis was performed using the Statistica 10.0 software (Statsoft, USA).
Results: The number of CAs was associated with patients’ age and early MM. The most significant number of CAs was found in women aged 35 and older, regardless of the pregnancy type (natural or IVF). A significantly higher number of CAs was found in abortion material of women with MM before 12 weeks of gestation. The age of the patients was most associated with the rates of trisomies and polyploidies. Trisomies were more likely detected in abortion material in women of late reproductive age (> 35), while polyploidies were more typical for abortuses from women under 35 years.
Conclusion: CA in the abortive materials from women with MM was detected in 51.2% of cases. Given the high incidence of CA (59%) after IVF in older reproductive age, it would be appropriate to recommend preimplantation genetic testing for aneuploidy (PGT-A) in older patients undergoing IVF. It is also advisable to use reproductive genetic counseling and cytogenetic analysis in the early stages of pregnancy to identify factors associated with miscarriage.
Keywords
karyotype
missed miscarriage
chromosomal abnormalities
Missed miscarriage incidence (MM) does not tend to decline and remains one of the most challenging problems of obstetrics and gynecology practice. MM is also a significant social issue. It seriously affects the quality of life and is associated with significant psychological trauma for a woman who has experienced this condition and often for her partner. Up to 20% of pregnancies end in MM-type spontaneous abortion, and up to 80% of them result in reproductive losses in the first trimester of pregnancy [1–3].
Women of older reproductive age are susceptible to spontaneous abortion, and female age older than 40 years is also associated with an increased risk of early reproductive losses and aneuploidy [4, 5]. The most common cause of sporadic pregnancy loss is chromosomal abnormalities (CA) found in 50–70% of MM cases before 12 weeks. The parental karyotype may be normal, indicating a de novo aneuploidy in the conceptus [6]. The pathology of the karyotype in one of the parents is the cause of abortion, affecting 2–8% of couples with recurrent pregnancy loss [7]. The current literature lacks sufficient coverage of the cytogenetic status of abortions. At the same time, these data are essential for identifying the cause of MM in a specific clinical case and identifying the patterns of chromosomal mutagenesis in a population, and assessing its contribution to early reproductive losses [8].
This study aimed to investigate whether chromosomal abnormalities in abortion material are associated with the age of patients with a missed miscarriage, the type of pregnancy, and the gestational age at which missed miscarriage was diagnosed.
Materials and methods
We retrospectively analyzed the findings of cytogenetic analysis of abortion material from women with MM (n=1487). They were referred to GEN-LAB laboratory by clinics in Moscow and the Moscow region from 2017 to 2021. The age of women ranged from 14 to 49 years, averaging 33.4 (5.5). It was found that according to the Shapiro–Wilk test, the data were not normally distributed. Cytogenetic analysis was performed after preliminary tissue cell cultures of abortion materials according to the standard method, evaluating ≥11 mitotic plates for each abortion [9].
Statistical analysis
Statistical analysis was performed using the Statistica 10.0 software (Statsoft, USA). Quantitative variables showing normal distribution were expressed as means (M) and standard deviation (SD). Categorical variables were presented as counts (n) and percentages (%). Variables not meeting normality assumptions were compared with a nonparametric Mann–Whitney test. Categorical variables were compared by the χ2 test.
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Received 06.08.2021
Accepted 05.10.2021
About the Authors
Natalya V. Shilova, PhD, Director of Development, GEN-LAB, +7(495)680-02-53, nvshilova@gmail.com.Moscow, 107078, Russia, Moscow, Kalanchevskaya str., 31, bldg. 4.Elena O. Skorik, Obstetrician-Gynecologist, Fertility Specialist, Coordinator Of Donated Programs, MRRIOG, mz_moniiag@mosreg.ru, 101000, Russia, Moscow, Pokrovka str., 22А.
Anastasia I. Chepurnaya, Biologist, Laboratory Geneticist, GEN-LAB, +7(495)680 02 53, E-mail: molly_07@mail.ru, 107078, Russia, Moscow, Kalanchevskaya str., 31, bldg. 4.
Alla D. Ermakova, Medical Laboratory Geneticist, GEN-LAB, +7(495)680-02-53, erma0711@gmail.com, 107078, Russia, Moscow, Kalanchevskaya str., 31, bldg. 4.
Elena Yu. Voskoboyeva, PhD, Clinical Geneticist, GEN-LAB”, +7(495)680-02-53, e_voskoboeva@mail.ru, 107078, Russia, Moscow, Kalanchevskaya str., 31, bldg. 4.
Tatyana A. Yamandi, Teaching Assistant at the Clinical Genetics Department, A.I. Yevdokimov MSUMD, Ministry of Health of Russia, +7(926)587-12-25, tiamandi@yandex.ru, 127473, Russia, Moscow, Delegatskaya str., 20, bldg. 1.
Ksenia V. Krasnopolskaya, Corresponding Member of RAS, Dr. Med. Sci., Professor, Head of the Reproductive Medicine Department, MRRIOG, mz_moniiag@mosreg.ru, 101000, Russia, Moscow, Pokrovka str., 22А.
Authors' contributions: Krasnopolskaya K.V. – conception and design of the study, manuscript drafting; Skorik E.O. – review of the relevant literature; Shilova N.V. – statistical analysis, manuscript preparation; Yamandi T.A. – manuscript editing; Ermakova A.D., Chepurnaya A.I. – entering data into spreadsheets.
Conflicts of interest: The authors have no conflicts of interest to declare.
Funding: There was no funding for this study.
Patient Consent for Publication: All patients provided informed consent for the publication of their data.
Authors' Data Sharing Statement: The data supporting the findings of this study are available on request from the corresponding author after approval from the principal investigator.
For citation: Shilova N.V., Skorik E.O., Chepurnaya A.I., Ermakova A.D., Voskoboeva E.Yu., Yamandi T.A., Krasnopolskaya K.V.
Cytogenetic analysis of abortion material from women with missed miscarriages.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2021; 10: 126-132 (in Russian)
https://dx.doi.org/10.18565/aig.2021.10.126-132
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