In vitro fertilization and preimplantation genetic testing methods in infertility treatment of a woman with karyotype 46,XX,ins(13;4)(q34;p14p15.3),inv(4)(p14q12). Case report

The frequency of structural chromosomal transpositions can range from 1.8 to 8% among patients with reproductive disorders. There are several types of the rarest chromosomal abnormalities: insertion (insertion of a chromosomal region) and inversion (rotation of a chromosome region). This article describes a clinical case of the infertility treatment using assisted reproductive technologies in a woman with a rare chromosomal abnormality: simultaneous insertion and inversion of chromosomes 46, XX, ins (13;4)(q34;p14p15.3), inv(4)(p14q12). The structure and frequency of chromosomal aberrations were determined by high-throughput sequencing in preimplantation embryos. The result of the sequencing analysis showed that unbalanced variants for a known pathology were detected in 9 (56.3%) out of 16 observations, while in 6 (37%) only for a pathology known in the karyotype and in 3 (19%) they were presented simultaneously with the pathology of other chromosomes or with mosaicism. According to the results of the study, in preimplantation embryos, where one of the parents had chromosomal abnormalities, in addition to unbalanced variants, there is aneuploidy of other chromosomes not involved in the known pathology. They are described in 3 (21%) out of 14 observations of all identified pathology. In this regard, patients with aberrations in the karyotype are recommended, whenever possible, to carry out preimplantation genetic testing of structural rearrangements by methods allowed to analyze all chromosomes simultaneously. For example, high-throughput sequencing on the Illumina platform may become an alternative for prenatal diagnostics, which is performed in fertile couples with high risk of having a child with hereditary or congenital disorders. In the case of detection of chromosomal changes in the fetus, patients are faced with a number of ethical issues related to the necessity for medical abortion, which may contradict their religious and moral convictions.

Risk factors and features of COVID-19 course in pregnant women: a comparative analysis of epidemic outbreaks in 2020 and 2021

Aim. To compare risk factors, features of COVID-19 course and outcomes in pregnant women during epidemic increase in incidence in 2020 and 2021. Materials and methods. The study included 163 pregnant women with laboratory-confirmed SARS-CoV-2 infection within May December 2020 (1st2nd waves of the epidemic) and 158 pregnant women who had new coronavirus infection within May August 2021 (3rd wave of the epidemic). Patients in all groups were comparable in age (1835 years), social status, parity, body mass index, and had no known risk factors for COVID-19. Results. Iron deficiency anemia, smoking, belonging to the Buryat ethnic group were recognized as persistent risk factors for COVID-19 in pregnant women. Over the 1st year of the pandemic, in pregnant women, the following clinical manifestations of novel coronavirus infection were commonly seen: anosmia (87.7%), somnolence (68.7%), shortness of breath even with a mild lung damage (68.1%). In the 3rd wave of the 2nd year of the pandemic, the leading signs and symptoms were cough (70.3% vs 38.7%, p0.001), runny nose (46.2% vs 3.7%, p0001), sore throat (367% vs 37%, p0.001); an increase in body temperature above 38C (19.6% vs 7,4%, p=0.006), pneumonia detected by computed tomography (61.4% vs 21.4%; p0.001). There was a significant increase in the incidence of severe lung lesions (with computed tomography 34: 17.7% vs 4.9%; p0.001) and admissions to intensive care units (11.4% vs 6.4%; p= 0041). There was a need for invasive mechanical ventilation (1.89% vs 0%; p=0.118). There was 1 death (0.63% vs 0%; p= 0.492), which was associated with the fulminant course of COVID-19. Conclusion. Persistent COVID-19 confounders in pregnant women who have no known risk factors in the third trimester of gestation are iron deficiency anemia, smoking, and belonging to the Buryat ethnic group. The clinical course of SARS-CoV-2 infection has changed and became more unfavorable: symptoms of acute respiratory disease (cough, runny nose, sore throat) began to prevail, the rate and severity of pneumonia and rate of mortality increased.

Evaluation of bovhyaluronidase azoxymer efficacy in combined treatment of patients with endometriosis based on the results of multicenter prospective non-interventional study (ISLAND)

Background. Endometriosis is a chronic progressive recurrent disease associated with pelvis pain, menses disorders and infertility. The prevalence of endometriosis (EGE) tends to increase steadily and reaches 15% among women of reproductive age. Endometriosis-associated pain can persist despite surgical and drug treatment of this disease, resulting in a significant decrease in the quality of life of patients. The main causes of EGE-associated pain are local inflammatory, adhesive, neuro- and angiogenic processes. Currently, the search for alternative methods of pathogenesis-based therapy of the disease is one of the priority tasks. Given its anti-inflammatory, enzymatic, antioxidant effects and anti-adhesion mechanism of action, bovhyaluronidase azoximer, an enzyme agent with hyaluronidase activity, is a promising drug in the complex therapy of EGE. Aim. To compare bovhyaluronidase azoxymer efficacy in complex therapy of patients with EGE using dienogest (2 mg) versus monotherapy with this progestogen in real clinical practice. Materials and methods. 149 female patients of reproductive age were enrolled in the study after surgical treatment for EGE. The patients were divided into two groups: the first group (n=94) was treated with complex therapy by dienogest (2 mg) daily within 6 months in combination with suppositories containing bovhyaluronidase azoxymer (3000 IU): 1 suppositorium once within 3 days,10 administrations; and then 1 suppositorium once in 7 days, 17 administrations, within 120 days; the second group (n=55) received monotherapy with dienogest (2 mg) daily up to 6 months. EGE-associated pelvic pain intensity, uterine bleeding severity and life quality were assessed during the study, after 30, 90, 150 and 180 days with regard to the basic values. Results. There was a statistically significant reduction of pain intensity observed in both groups compared to the basic level, using visual analogue scale of pain (VAS), the Biberoglu and Berman scale, but there was a distinct trend towards a more significant decrease in pelvic pain score basing on VAS in patients received complex therapy versus monotherapy with dienogest 2 mg after 30 days of treatment (p=0.051). Life quality assessment of patients in both groups revealed statistically significant increase in scores for all values of the SF-36 life quality scale just after the second follow-up visit. More significant life quality improvement in patients was observed with complex therapy with regard to such descriptors of the SF-36 Questionnaire as Physical functioning, Role-physical functioning, Pain intensity (p0.05). Conclusion. Bovhyaluronidase azoxymer in combination with dienogest (2 mg) improves the overall therapy effectiveness for EGE and is associated with more significant reduction in pelvic pain intensity, inflammatory and adhesive processes in the pelvis, and significant life quality improvement compared to monotherapy with 2 mg dienogest.

Pregnancy management in patients with uterine fibroids. Case report

Uterine fibroids (UF) are the most common tumor in women of reproductive age. The growth of myomatous nodes during pregnancy is non-linear and mainly occurs in the first trimester. In most cases, UF do not burden the course of pregnancy. Large size (5 cm), retroplacental location, and/or deformity of the uterine cavity by the myomatous node are associated with increased risks of spontaneous miscarriage, placental abruption, bleeding, preterm birth, and cesarean section. Myomectomy during pregnancy is undesirable, with the development of pain syndrome, the use of acetaminophen is safe. Indications for cesarean section in UF are the presence of a large size of fibroids that prevent delivery through the natural birth canal, red degeneration of myomatous nodes, torsion of the subserous myomatous node (degree 2C).

Prevention of endometrial hyperplasia without atypia in women of reproductive age

Objective of this review is a systematic analysis of the data available in the current literature on the efficacy and safety of progestogens for the prevention of atypical endometrial hyperplasia (EH) in patients of reproductive age. EH is an excessive proliferation that results in increased volume and changes in endometrial tissue architectonics with an increase in the endometrial glands to stroma ratio of more than 1:1. This review will consider the use of progestogens for the prevention of (EH) based on evidence-based scientific evidence over the past 5 years. The expansion of the range of effective treatment options allows the adaptation of treatment to the needs of patients and offers a personalized approach to their management. Progestogens are an effective and safe method for the prevention of atypical hyperplasia, with a wide range of therapeutic benefits associated with reliable favorable fertility prognosis, especially in young women.

Uterine perfusion in patients with MMP2 gene polymorphisms

Aim. To investigate the effect of allelic polymorphisms of the MMP2 gene on uterine perfusion in patients planning pregnancy. Materials and methods. 95 women planning pregnancy were examined. The patients underwent clinical and laboratory examination, analysis of single nucleotide polymorphisms rs2285052 and rs243865 of the MMP2 gene, ultrasound examination on days 1825 of the menstrual cycle with an assessment of the pulsatility index of blood flow of the uterine vessels and a qualitative assessment of endometrial and subendometrial perfusion. Depending on the genotype, the patients were divided into 3 groups: first with haplotype rs2285052(A)rs243865(T), second with haplotype rs2285052(A)rs243865(С), and a third control group with rs2285052(С/С)rs243865(С/С) genotype. Results. Decreased perfusion in the subendometrial zone was found in 40.6, 44.4 and 19.4% of patients in the 1, 2 and 3 groups, respectively; decreased perfusion of endometrium in 68.8, 55.6 and 36.1% of patients in the 1, 2 and 3 groups, respectively. Spiral arteries were not visualized in 28.1, 14.8 and 11.1% of patients in the 1, 2 and 3 groups, respectively. No statistical differences were found in the pulsatility index of uterine blood flow depending on the genotype. Conclusion. In patients with the A rs2285052 and T rs243865 alleles of the MMP2 gene poor vascular patterns of the endometrium and subendometrial zone of the uterus were statistically significantly more frequent, which can lead to infertility. These associations are more pronounced for the rs2285052 polymorphism. The simultaneous determination of the rs2285052 and rs243865 polymorphisms does not provide additional information compared to the definition of rs2285052 alone.

Comprehensive therapy with myoinositol and D-chiroinositol in a 5:1 ratio for abnormal uterine bleeding in overweight and obese women

Background. Abnormal uterine bleeding (AUB) occurs in one-third of women of reproductive age and has a significant impact on women's lives, causing anemia, impaired social adaptation and professional activity. AUB-O (ovulatory dysfunction) is often caused by an excessive body mass (BM) and obesity (especially visceral). The most effective option for restoring menstrual cycle (MC) in obese women is BM reduction. There is evidence that the combination of inositols myoinositol (MI) and D-chiroinositol (DCI) has a beneficial effect on BM loss, ovulation frequency and getting pregnant in women with polycystic ovary syndrome. Aim. To study the effect of MI and DHI in a 5:1 ratio in combination with diet and exercise on the regulation of MC in overweight and obese women. Materials and methods. The study has been conducted in clinics of Moscow, Kazan and Tyumen for 20202021. It is a descriptive study assessing an efficacy of lifestyle modification (diet and exercise) plus a nutritional support with a combination of 1000 mg MI and 200 mg DCI (ratio 5:1) for 24 months in 353 women of reproductive age with AMK-O and overweight or obesity. Efficacy criteria include: MC regularity, BM index (BMI), waist circumference (WC), levels of serum glucose, free testosterone, follicle-stimulating hormone, luteinizing hormone. Results. The study showed a significant shortening of MC to its physiological duration 3112.04 days (vs 4419.51 days at the 1st visit; p=0.001), a decrease in the rate of heavy bloody vaginal discharge by 2.57 times (p=0.001), an increase in the rate of moderate bloody vaginal discharge by 1,62 times (p=0.001), an increase in the proportion of patients with regular MC by 2.69 times (p=0.001). These changes were accompanied by a decrease in BM (-3 kg; p=0.001), a decrease in WC (-2.5 cm; p=0.001). Laboratory tests revealed a decrease in serum glucose (-1.3 mmol/L; p0.05), free testosterone (-0.4 pg/L; p0.05), luteinizing hormone (-0.8 mIU/ml; p0.05), and an increase in follicle-stimulating hormone (+0.1 mIU/ml; p0.05) levels. Conclusion. The results obtained (a decrease in BM, a decrease in BMI, WC, as well as MC restoration; p0.05) make it possible to recommend Dikirogen containing MI and DCI in a 5:1 ratio as a part of comprehensive therapy for overweight and obese women with AUB-O.

Effectiveness of treatment of the Asherman’s syndrome in women of reproductive age. Case report

The most urgent problem of modern gynecology is not just the treatment of intrauterine adhesive disease in fertile women, but the prevention of its recurrence. The lack of a systematic approach to management create grounds for searching for remedies with maximum anti-relapse effectiveness, minimum frequency of side effects. The purpose of the review is to consider the effectiveness of various types of treatment of intrauterine adhesions in women of reproductive age.

Predictors of preeclampsia. Screening and prophylaxis in the I trimester of pregnancy

Aim. To examine the current state of the problem of the prediction of preeclampsia in early pregnancy. Materials and methods. The article provides an overview of publications based on search results in electronic resources PubMed, Elibrary, EMBASE and Google Scholar. Results. The currently known predictors of preeclampsia can be divided into biochemical and hemodynamic. A number of markers demonstrate prognostic value already in the early stages of gestation. To predict preeclampsia, algorithms are created. They include various combinations of its predictors and maternal risk factors. Conclusion. Prediction of preeclampsia is gradually moving from theory to practice. The instruments of its early forecasting before the gestational age of 14 weeks 6 days are becoming available. That opens up opportunities for targeted and timely prevention of preeclampsia.

Endometriosis. Case report

Extragenital endometriosis (EGE) is the rarest variant of endometrioid disease. This is a process in which a benign growth of tissue similar to the endometrium in morphological and functional properties occurs outside the uterine cavity. The manifestation of the disease has an erased course characteristic of other diseases and patients are more likely to end up in non-core departments, which is accompanied by errors in treatment tactics. According to the data of T.V. Dresvyanskaya et al., the frequency of EGE is 68% of the number of all cases of detection of endometrioid disease. The article presents a case of successful surgical treatment of EGE of rare localization.