Rett syndrome is one of the most common causes of mental retardation in girls. The aim of our work was to study a spectrum of genetic heterogeneity and various clinical manifestations of Rett syndrome in girls Western Ukraine. Materials and methods: there were used clinical, molecular and genetic methods. We observed seven girls with Rett syndrome aged from 6 months to 15 years who were diagnosed and followed-up at the Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv for three years (2019–2021) and underwent molecular genetic analyses confirmed by next-generation sequencing. Results: In this study, patients with Rett syndrome had individual clinical heterogeneity and age variability due to different mutations. Mental retardation was not observed among siblings in families with Rett syndrome. We identified seven different pathogenic mutations among seven girls, including two deletions and one duplication of the MECP2 gene. Microcephaly was observed in two girls with MECP2 c.880C>T (p.Arg294*) and MECP2 Gain (Entire coding sequence) at birth. The following developmental disabilities were found in five girls: lack of independent sitting, lack of independent gait (regression of development). Among musculoskeletal disorders, there were diagnosed scoliosis, X-shaped deformation of the lower extremities and muscular hypotonia. A two-year-old girl with Rett syndrome, along with other clinical symptoms, had breathing problems - hyperventilation (rapid shallow breathing). Conclusions: in cases with unknown cause of delayed developmental disability and mental retardation the patients should be referred for medical genetic counselling.
Introduction. According to the WHO, about 3 % of infants worldwide are born with a congenital malformation (CM). The aim of the study. To conduct a retrospective analysis of the spectrum of congenital malformations diagnosed during pregnancy based on the Lviv Medical Genetics Center during 2018-2020 yy. Materials and methods. Clinical and epidemiological, as well as medical and statistical data on CM diagnosed prenatally between 2018-2020 were collected from primary source documents (Form No. 49) and then analyzed at the Lviv Medical Genetics Center ʺInstitute of Hereditary Pathology, National Academy of Medical Sciences of Ukraineʺ, Lviv. The Student’s t-test was used to determine the difference between the arithmetic means. The null hypotheses were tested using a t-test at the significance level of p-value less than 0.05. Results. A total of 11062 pregnant women were examined between 2018-2020: CM at different stages of pregnancy were diagnosed in 454 cases, which accounted for 4.1 % of cases and did not exceed the population value. There was a 2.3-fold reduction in the number of pregnant women presented to the Medical Genetics Center in 2020, probably due to the global coronavirus pandemic – from 5007 women in 2018 to 2212 females in 2020. However, the number of CM diagnosed prenatally in 2020 was not statistically significant (p-value more than 0.05) as compared to the average value for these years and 2018. In 2018, a total of 5007 pregnant women were examined at the Lviv Medical Genetics Center. In 136 (4.8 %) cases, fetal malformations were diagnosed before 22 weeks of gestation, while in 26 (1.2 %) cases, pregnancy was affected by congenital anomaly in its second half. In 2019, there were examined 3843 pregnant women. In169 (7.8 %) cases, CM were diagnosed before 22 weeks of gestation, that was statistically significant as compared to 2018 (p-value less than 0.05) and in 20 (1.2 %) cases, fetal anomalies were detected in the second half of pregnancy, that was not statistically significant as compared to the previous year (p-value more than 0.05). In 2020, we examined 2212 pregnant women. Reducing the number of visits to our medical center was probably due to the coronavirus pandemic. There were95 (5.0 %) cases of fetal malformations diagnosed before 22 weeks of gestation and 8 (2.5 %) cases of congenital anomalies detected in the second half of pregnancy. The number of CM diagnosed prenatally was the highest in 2019 – 4.9 %; however, there was no statistically significant difference (p-value more than 0.05) in the average values for these years – 4.1 % and 3.2 % in 2020 and 2018, respectively. In 2020, the incidence of congenital malformations diagnosed after 22 weeks of gestation was significantly higher (p-value less than 0.05) than in other years – 2.5 % and 1.2 %, respectively. Conclusions. Between 2018-2020, the incidence of congenital malformations diagnosed at different stages of pregnancy was 4.1 %. Congenital malformation s of the nervous system (Q00-Q07) were the most common anomalies diagnosed before 22 weeks of gestation, while after 22 weeks, the most common malformations were congenital malformations of the urinary system (Q60-Q64). Qualified timely diagnosis of correctable developmental deficiencies, as well as team efforts of obstetricians, neonatologists, pediatric neurologists, pediatricians, and other health care professionals to ensure normal childbirth and provide a baby with specialized care, followed by life-time rehabilitation are the main tasks of prenatal medicine.
Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine, Lviv. Ukraine. Objective: to analyze data on somatic, reproductive, gynaecological history, pregnancy course and outcomes in women with a history of infertility residing in the Lviv region. Material and methods. The data and results of medical genetic counselling of 170 women aged 18-42 with a history of infertility (main group) were analyzed. The comparison was carried out with similar parameters of 80 healthy women aged 18-42 years in the control group. The data of somatic, reproductive, gynecological anamnesis, the pregnancy course and outcomes were studied. Statistical processing of the findings obtained was carried out by the Statistica 7.0 software package using the standard Excel 2013 statistical analysis package. Differences were considered statistically significant at p <0.05. Results. The analysis of the data of the results of medical genetic counselling of 170 women with a history of infertility for 2019-2021 was carried out. The patients with a history of infertility were significantly more likely to be over 36 years of age compared to the same indicators in the control group. They had a complicated somatic anamnesis, 80.0% versus 20.0% in the control group, with a significant predominance of cardiovascular pathology (21.8% and 11.2%), and they also more often had reproductive history complications, 51 (30.0%) versus 11 (13.7%), mainly due to spontaneous miscarriages and missed pregnancies: 46 (27.0%) and 11 (13.7%), respectively. The gynaecological history in all these patients was complicated by infertility, and only infertility was in 113 (66.5%); infertility in combination with ovarian apoplexy was found in 17 (10.0%) and with ectopic pregnancy in 15 (8.8%) that was significantly higher in relation to respective data in the control group of women: 2 (2.6%) and 1 (1.3%), respectively. In women with a history of infertility, a high incidence of pregnancy complications was noted: 146 (85.9%) versus 39 (48.75%) in the control group: they more often gave birth for the first time: 110 (64.7%), and 35 (43.7%) in the control group. Analysis of the data obtained showed the presence of a large number of maternal risk factors for obstetric complications in this group of women. Conclusion. The study has demonstrated the risk factors for the occurrence of obstetric pathology in women with a history of infertility include presumably older age (over 36 years) (13.5%), a complicated reproductive history (30.0%) mainly due to spontaneous miscarriages and missed pregnancies (27.0%); complicated somatic history (80.0%) with a significant predominance of the pathology of the cardiovascular system (21.8%). A gynaecological history aggravated by infertility was found in all 170 (100.0%) women of the main group, and a significant increase in the combination of infertility with ovarian apoplexy was detected in 17 (10.0%) and with ectopic pregnancy in 15 (8.8%) women compared with the control group: 2 (2.6%) and 1 (1.3%), respectively. The complicated course of pregnancy was found in 85.9% of women with a history of infertility and in 48.75% of women in the control group; they more often gave birth for the first time: 110 (64.7%) versus 35 (43.7%) patients in the control group (p<0.05). Women with a history of infertility are at risk for obstetric complications.
Introduction. The frequency of children with birth defects (BD) according to the WHO reaches 4-6% of the total number of newborns. Objectives. The purpose of this work was to determine the probable risk factors for “model” BDs in newborns. Methods. Analysis of clinical-epidemiological and medical-statistic data from the primary documentation on newborns in 2002-2020 with BDs by the “case-control” method filling out registration cards in maternity hospitals of Lviv region was conducted. Results. There were filled 1204 healthy newborns’ cards and 1211 cards of newborns with BDs. In the structure of “model” BD, the deformations of the musculoskeletal system composed 272 (22.5%) cases, clefts of the lip and palate accounted for 193 (15.9%) cases, chromosomal abnormalities comprised 174 (14.4%) cases. We observed statistically significant risk (р<0.05) of BDs for newborns with increased numbers of pregnancies in mothers. There was a statistically significant difference [OR=3.97; 95%CI: 1.97; 7.99] in the medical history relative to stillbirths (3.2%) in mothers with BD newborns as compared to women in the control group (0.8%). The prevalence of pathological structure of the placenta in women of the study group (32.8%) was higher [OR=3.71; 95%CI:3.01; 4.56] than in those of the control group (16.8%). Mothers of both groups showed no statistically significant difference in anemia, preeclampsia, the interval between pregnancies, and the number of abortions and miscarriages (p> 0.05). Conclusions. Further research in this area should be directed to determine the contributions of genetic factors in BD occurrence, considering the genealogical history of each family.
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