Frequency Of Congenital Malformations Research Articles

Visible Congenital Malformations in Ouagadougou (Burkina Faso)

Objective: To gain a better understanding of congenital malformations and to help reduce neonatal morbidity and mortality, particularly in a context of resource-limited countries.
 Methods: This descriptive cross-sectional study with retrospective and prospective data collection over the period from November 2019 to January 2022 was conducted in the Neonatology Unit of the Centre Hospitalier Universitaire Pédiatrique Charles de Gaulle of Ouagadougou, Burkina Faso (West Africa). Records of neonates with a visible malformation, neonates whose parents were accessible by telephone were included.
 Results: The frequency of congenital malformations was 8.4%. They affected females (51.1%), first-born siblings (25%) and full-term babies (69.6%). Osteoarticular malformations (38%), those of the eye, ear, face and neck (22.81%), followed by those of the digestive system (21.64%) were the most frequent. The case-fatality rate was 51.5%.
 Conclusion: Visible congenital malformations are a major cause of morbidity and mortality among neonates in our unit. To help reduce the morbidity and mortality associated with malformations, awareness-raising, early detection, prevention and improved medical care for affected neonates are needed. This is all the more true in countries where medical resources may be limited and surveillance systems need to be put in place.

Birth defect: Findings from Obstetrics & Gynae Department of a tertiary Hospital

Objectives: To determine the frequency and types of birth defect among newborn in Sir Salimullah Medical College Hospital Study Design: Cross-sectional study. Methods: The study was conducted in Sir Salimullah Medical College Hospital from January- December 2018. Birth defect identified previously during pregnancy on USG or defect detected at birth at Obstetrics department were included in the study. The study was conducted at Obstetrics department of SSMC MH. All births with gross congenital malformations were noted. All malformations were classified as per ICD 10 classification. The mother of the newborn with congenital malformations was interviewed consecutively using predesigned, pretested questionnaire. The variables included parents age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. Results: Out of 8912 live births, congenital malformations were observed in 50 cases. The frequency of congenital malformation was 0.56%. There were 25 males and 23 females and two newborns had ambiguous genitalia. The highest congenital abnormality reported in this study was in the age group between 20-29 years, which was 31(62%), The central nervous system was the most common system involved. Among 50 neonates, 8 neonate had multiple congenital anomalies and 42 babies had isolated malformations. Bangladesh J Obstet Gynaecol, 2022; Vol. 37(2): 127-131

FRI300 Prolactinoma And Pregnancy: A Systematic Review And Meta-analysis

Abstract Disclosure: D.B. Bandeira: None. L.S. Alves: None. A. Glezer: None. C.L. Boguszewski: None. V.S. Nunes-Nogueira: None. Introduction: Prolactinomas are the most common pituitary tumors, being an important cause of irregular menses and infertility. However, fertility can be restored, making pregnancy possible, especially for women who have achieved disease control, mainly on dopamine agonist (DA) treatment. Although literature data demonstrate safety in maternal and fetal outcomes, the evidence has not been systematically synthesized. Purpose: To perform a systematic review evaluating disease control and fetal and maternal outcomes in pregnancy of women with prolactinoma. Methods: We conducted a systematic review according to the Joanna Briggs Institute methodology for systematic reviews of etiology and risk. We included observational studies that evaluated pregnant women with prolactinoma. The outcomes of interest were spontaneous miscarriage, preterm birth, worsening of preexisting diabetes/development of gestational diabetes, tumor growth during pregnancy, headache, visual impairment, perinatal mortality, low birth weight, congenital malformations. Embase, Medline, LILACS, and CENTRAL were our source databases. To perform proportional meta-analyses, we used Stata Statistical Software 17. Results: Fifty-one studies were included encompassing a total of 2513 pregnancies in 1903 women with prolactinoma. The overall frequency of the pregnant women on DA at conception was 97% (from 49 studies of 2493 pregnancies; 95% confidence interval (CI), 93–99%); there were 9% of spontaneous miscarriage (from 38 studies of 2073 pregnancies; 95% CI, 7–12%), 3% of prematurity (from 38 studies of 1584 pregnancies; 95% CI, 3–2%), 9% of symptomatic tumor growth during pregnancy (from 38 studies of 1584 pregnancies; 95% CI, 5–15%), 4% of visual impairment (from 33 studies of 1480 pregnancies; 95% CI, 2–7%), 6% of headache (from 31 studies of 1385 pregnancies; 95% CI, 3–11%) and 4% of worsening of preexisting diabetes/development of gestational diabetes (from 9 studies of 666 pregnancies; 95% CI, 3–7%). The overall frequency of congenital malformations was 2% (from 23 studies of 1212 newborns; 95% CI, 1–4%), 2% of perinatal mortality (from 18 studies of 1123 newborns; 95% CI, 1–3%) and 6% of low birth weight (from 17 studies of 843 newborns; 95% CI, 3–9%). Conclusion: Pregnancy in women with prolactinoma is frequently safe in relation to fetal and maternal outcomes, presenting low frequency of spontaneous miscarriage, prematurity, tumor growth, visual impairment, headache, congenital malformations, perinatal mortality and of low birth weight. Presentation: Friday, June 16, 2023

Increased risk of congenital malformations in offspring born to women with systemic lupus erythematosus in South Korea: a nationwide population-based study

ObjectivesThe aim of this study was to determine the risk of congenital malformations in offspring born to women with systemic lupus erythematosus (SLE).MethodsThis nationwide population-based study included Korean women who...

PRENATAL DIAGNOSIS OF CONGENITAL AND HEREDITARY PATHOLOGY IN WOMEN WHO HAD COVID-19 DURING PREGNANCY

The recent investigation of genetic and demographic processes in Ukraine has revealed an exacerbation of the demographic crisis due to a high level of reproductive losses in women that is manifested by an increased frequency of lost pregnancies and the birth of offspring being at a high risk of disability and mortality. Corona virus disease 2019 (COVID-19) caused by severe acute respiratory syndrome due to infection with the SARS-CoV-2 coronavirus spread rapidly around the world is potentially associated with complicated pregnancy. Unforeseen consequences of the COVID-19 pandemic pose a threat to the health of pregnant women. The effects of COVID-19 can be expected to become evident over years. Therefore, epidemiological information on the identification of population groups that may be at risk of severe complicated reactions is critically important. It is also essential to evaluate the situation at the different levels of population in order to outline the general directions of state policy in terms of effective countermeasures against the COVID-19 pandemic.
 Aim: to investigate the frequency and structure of congenital and hereditary pathology diagnosed by non-invasive and invasive methods of prenatal diagnosis in women who contracted COVID-19 during pregnancy.
 Material and methods. Ultrasound diagnosis of pregnant women who contracted COVID-19 during pregnancy was carried out using the Voluson E8 device and chorion biopsy in pregnant women. Collection of chorionic villi in the 1st trimester of pregnancy was carried out by aspiration method through cervical access under constant ultrasound control using a TROFOCAN catheter. An analysis of the frequency and structure of congenital and hereditary pathology was conducted based on the findings of non-invasive and invasive methods of prenatal diagnosis.
 Results. The study had demonstrated that the frequency of diagnosis of congenital foetal malformations is 6.3%. In the structure of congenital pathology, 2.5% of women had developmental anomalies of the cardiovascular system, 2.5% had congenital anomalies of the bone system, and 1.3% had multiple congenital malformations. Invasive prenatal diagnosis performed in 3.7% of women detected chromosomal pathology in 3.7% of women, and in particular, trisomy 21 of chromosomes was diagnosed in 2.5% of women, Turner syndrome was found in 1.3% of women. The frequency of chromosomal pathology in women who contracted COVID-19 during pregnancy is 3.7%. In 51 (63.7%) women who contracted COVID-19 during pregnancy, ultrasound examination of pregnant women has revealed certain features and pathological changes, especially in the structure of the placenta and changes in uteroplacental blood flow: 26.3% of women were diagnosed on premature aging of the placenta; 13.7% of women had the impairment of uteroplacental blood flow, and 23.7% of women were diagnosed as having concomitant pathology.
 Conclusion. The frequency of congenital malformations diagnosed by non-invasive prenatal diagnosis in women who contracted COVID-19 during pregnancy was 6.3%. The frequency of chromosomal pathology in the women was 3.7%. In 63.7% of women who contracted COVID-19 during pregnancy, certain features and pathological changes were detected during ultrasound examination, especially in the structure of the placenta and changes in uteroplacental blood flow.

Frequency of congenital malformations in the ecological zones of rural areas of the Republic of Dagestan

One of the indicators of the health of the child population is the frequency of congenital malformations (CMD), which include volume and death. The incidence rate of congenital malformations is one of the objective indicators reflecting the socio-economic and environmental well-being of society. The frequency and structure of significant congenital malformations vary not only in different states, but also within and within the territory of one country. The purpose of this study was a retrospective assessment of the features of the epidemiology of congenital malformations in children by ecological zones and resources in the risk zone of Dagestan in 2015–2019. The WPR in Dagestan is characterized by intensive growth over a 5‑year period, as well as a wide range of emissions across ecological zones and administrative regions of limited territories and cities. In the environmental monitoring zone in 2016, the CPP showed 67.1 %, and in 2017 — negative — 2.3 %, in the foothill environment there was a positive and fluctuating from 83.3 % in 2016 to 2, 3 % — in 2017. In the mountainous environment observed in 2016 and 2017. The CPP was controversial, at 28.1 % and 20.0 % respectively. In Dagestan, for 5 years, the CPP was estimated, although it fluctuated significantly over the years. The problems of CM deserve closer attention, and not only and not so much in terms of epidemiological and environmental plans. Prevention of congenital malformations is one of the environmental problems in the field of health protection.

Assessment of indicators of reproductive health of the population of the Trans-Ural Republic of Bashkortostan in 2000–2020

BACKGROUND: The reproductive health of a population depends on many factors one of which is chemical pollution of the environment caused by both natural conditions and man-made impacts. The population living in geochemical provinces is often subject to pathological conditions caused by a lack, excess or imbalance of macro- and microelements. This study was carried out in the Republic of Bashkortostan in areas of natural and man-made anomalies with excessive content of heavy metals in the environment.
 AIM: To analyze the demographic profile and assess the reproductive health of the population of the Trans-Ural zone of the Republic of Bashkortostan.
 MATERIALS AND METHODS: A descriptive ecological study of the trend of reproductive health of the population of the Trans-Ural zone of the Republic of Bashkortostan was carried out using average population indicators. Statistical data presented in the open press by the Ministry of Health of the Republic of Bashkortostan for the 20002020 period were used. These data included demographic indicators, infant mortality, frequency of congenital malformations, and morbidity of children within the first year of life.
 RESULTS: In all the areas studied, there was a tendency for a decrease in the birth rate and an increase in the mortality rate. The highest average birth rate of 19.8 was recorded in the Burzyansky District and the lowest of 13.1 in the Zilairsky District, which was higher than the republican average of 12.4. During the study period, there was a significant decrease in infant mortality both in the republic and in the Trans-Urals regions. Average infant mortality rates relative to congenital malformations among newborns in the Sibay, Baymaksky, and Zianchurinsky Districts as well as the relative risk of blood diseases in children of the first year of life in most of the studied areas was higher than the average republican level.
 CONCLUSION: Reproductive health of the population of Sibay for the period 20002020 is exposed to a higher risk of congenital malformations and infant mortality than the average republican level. In the Baymaksky, Zianchurinsky, Uchalinsky and Khaibullinsky Districts, the risk of developing blood diseases in children within the first year of life was higher than the average republican level. The results further indicate the need to take measures to reduce risks and improve the safety of reproductive health of the population of the mining region.

Frequency and structure of congenital fetal malformations in the new socioeconomic conditions

Aim. To identify the frequency and the structure of congenital malformations in the new socio-economic conditions of the region for the period betwee 2014-2018.Material and methods. Annual statistical data of form 32 “Report on the provision of medical care to pregnant women, women in labor and newborns”, approved by No. 54 of 11.11.2014, of the Center for Medical Statistics and Information of the Ministry of Health and Social Protection of the Republic of Tajikistan for the period 2014-2018 were analyzed.Results and discussion. In the new socio-economic conditions of the country, a high frequency of congenital malformations has been established, which has an unstable tendency to decrease. The findings indicate that congenital malformations occur mainly among premature newborns, while lesions of the central nervous system prevail. Defects of the cardiovascular system prevail among full-term infants, which is possibly associated with the late diagnosis of the pathology.Conclusion. Perinatal screening will allow timely detection of congenital malformations of the fetus, reduce perinatal morbidity and mortality.

Epidemiological and clinical profile of congenital malformations in Benghazi Pediatric Hospital

Objectives: The objectives were to assess the nature and the frequency of congenital malformations among infants and children who were admitted to Benghazi pediatric hospital and to study the associated maternal and neonatal risk factors.
 Patients and methods: A cross-sectional study design was used for this study. It included infants and children aged (0-16 yrs.) who were admitted to Benghazi Children Hospital and who were following the genetic clinic, during the period of March 2016 to March 2017. These cases had dysmorphic features and multiple congenital malformations. A record sheet was used to collect the required data from cases. Results: The total number of patients was 81 children, 51.85% were females, 48.15% were males and infants represented 62%. Cases with a history of consanguineous marriage represented 28.40%. Equal proportions of mothers (1.23%) had a history of diabetes, epilepsy and cardiomyopathy. Nearly a quarter of cases, (24.69%) were low birth weight. Prevalence of congenital malformations (CMs) according to organs were; CVS (50.62%), musculoskeletal (44.44%), eye (24.7%), limb defect (17.3%), GIT (14.8%), ear (14.8%), CNS (11.11%), urogenital (external & internal)(11%), cleft lip & palate (9.9%) and Trisomy 21 syndrome (48.1%). Trisomy 21 syndrome have a high frequency of CHD compared to other syndromes; 67.9% had CHD, P=.01. Most cases (90%) died within the first year of life, p=.002. Twenty-six percent of the studied population died during the study period.
 Conclusion: Most children with CMs and chromosomal abnormalities died within the first year of life. There is a limitation of screening tools, which could lead to imprecise genetic counseling. CM is a significant cause of morbidity and admission. The highest prevalence of CMs was CVS. Trisomy 21 syndrome was the most prevalent chromosomal abnormalities; these cases were at more risk to have CHD compared to other syndromes. There is a shortage of medical services, which applied as segmental services.

Thyroid Function Rather Than Thyroid Antibodies Affects Pregnancy and Perinatal Outcomes: Results of a Prospective Study.

Thyroid autoantibody positivity has been associated with an increased rate of obstetrical complications. We aimed to evaluate the role of thyroid autoantibodies in adverse pregnancy outcomes. This prospective study was conducted in the Endocrinology Unit of Pisa Hospital. A total of 975 pregnant women were studied from 2012 to 2021; 572 (59%) were diagnosed with autoimmune thyroid (AT) diseases; 403 (41%) served as controls. Levothyroxine (LT4) treatment was introduced when TSH was > 2.5 mIU/L in the AT group and when TSH was > 4 mIU/L in the controls. Rates of obstetrical complications in each group were measured. Although the frequency of miscarriage in the AT group was greater (4.8%) than in the controls (2.9%), no significant differences were detected (P = 0.181). There were no differences between the 2 groups concerning the other pregnancy complications, and no association with the titer of thyroid antibodies was observed. The frequency of congenital malformations was greater in the AT group than in the controls (P = 0.019), but no correlation with major congenital malformations was detected (P = 0.872). Given that thyroid hormone concentrations were strictly controlled in our population, we documented a tendency (not significant) toward an increase in miscarriage and preterm birth among women with TSH > 4 mIU/L. If thyroid function is adequately controlled, the presence and titer of thyroid autoantibodies does not negatively influence gestation. Although not significant, suboptimal thyroid hormone status seems to affect pregnancy outcomes more than thyroid autoimmunity.

Dynamics of the incidence of congenital malformations in children in Chelyabinsk based on the results of epidemiological monitoring in 2012–2017

Congenital malformations are not only a medical, but also a serious social problem, since this pathology is a leading cause of perinatal, neonatal, and infant morbidity, disability, and mortality.Purpose. To analyze the variation dynamics in the incidence of groups of congenital malformations, the structure of congenital malformations according to the average incidence, and the consistency of changes in the incidence of individual groups of congenital anomalies in children of Chelyabinsk based on the results of epidemiological monitoring in 2012–2017.Material and methods. To assess the frequencies of congenital malformations, we used the monitoring data of the Regional Medicaland Genetic Consultation Office in Chelyabinsk for the period from 2012 to 2017, for Down syndrome (T21) from 2012 to 2018. The total number of newborns over the six-year period was 102,308, of which 2101 children were registered with congenital malformations, including live-born, stillborn children, and fetuses with malformations identified through prenatal diagnostics. Clinical data on newborns was grouped into 11 congenital malformations categories based on the International Classification of Diseases. The statistical analysis of the monitoring results was carried out using methods of descriptive statistics, samples comparisons, correlation, and cluster analysis.Results. The incidence of all registered congenital malformations in newborns in Chelyabinsk was 20.7 per 1000 births (95% CI: 17.4–25.4) during the study period. In newborns of the Chelyabinsk city in 2012–2017, the prevalence of congenital malformations of the circulatory system (42.8%), chromosomal abnormalities (11.9%), and anomalies of the musculoskeletal system (10.3%) was observed. The relative frequency of Down syndrome for the period from 2012 to 2018 ranged from 1.51‰ to 2.42‰, considering both children born with this pathology and the data on prenatal diagnostics.Conclusion. The hierarchy of congenital malformations was reproduced from year to year with a predominance of circulatory anomalies, chromosomal anomalies, and musculoskeletal anomalies of the system. The overall incidence of all congenital malformations in Chelyabinsk in 2012–2017 does not exceed the average values for the Russian Federation, while the incidence of Down syndrome exceeded the average national level.

Outcomes of children born to mothers with systemic lupus erythematosus exposed to hydroxychloroquine or azathioprine.

HCQ and AZA are used to control disease activity and reduce risk of flare during pregnancy in patients with SLE. The aim of this study was to determine the outcomes of children born to mothers with SLE exposed to HCQ or AZA during pregnancy and breast-feeding. Women attending UK specialist lupus clinics with children ≤17 years old, born after SLE diagnosis, were recruited to this retrospective study. Data were collected using questionnaires and from clinical record review. Factors associated with the outcomes of low birth weight and childhood infection were determined using multivariable mixed-effects logistic regression models. We analysed 284 live births of 199 mothers from 10 UK centres. The first pregnancies of 73.9% of mothers (147/199) were captured in the study; (60.4%) (150/248) and 31.1% (87/280) children were exposed to HCQ and AZA, respectively. There were no significant differences in the frequency of congenital malformations or intrauterine growth restriction between children exposed or not to HCQ or AZA. AZA use was increased in women with a history of hypertension or renal disease. Although AZA was associated with low birth weight in univariate models, there was no significant association in multivariable models. In adjusted models, exposure to AZA was associated with increased reports of childhood infection requiring hospital management [odds ratio 2.283 (1.003, 5.198), P = 0.049]. There were no significant negative outcomes in children exposed to HCQ in pregnancy. AZA use was associated with increased reporting of childhood infection, which warrants further study.

Prevalencia de malformaciones congénitas en la Unidad de Perinatología del Hospital Universitario de Caracas

Objective: To determine the frequency of congenital malformations diagnosed by prenatal ultrasound in the “Dr. Freddy Guevara Zuloaga” Perinatology Unit of the University Hospital of Caracas, Venezuela, in the period between January 1, 2015 and December 31, 2020. Methods: Retrospective, descriptive, cross-sectional study. The statistical records of the Unit were reviewed, with a population of 56,712 and 1844 patients were included in accordance with the inclusion criteria. Results: A general prevalence of 3.3% was obtained. The largest number of studies was conducted in 2016 (12,781). The highest prevalence of congenital malformations was 4.6%, in 2018. In order of frequency, the affected systems were: central nervous system, cardiovascular, genitourinary, gastrointestinal and abdominal wall. Less frequently, abnormalities of the face and neck, chest and lung, musculoskeletal system, and tumors were diagnosed. The most frequent malformations were: pyelic dilation (152 / 8.2%), ventriculomegaly (143 / 7.6%), gastroschisis (114 / 6.1%), Arnold Chiari type II (71 / 3.8%), acraniaexencephaly sequence (66 / 3.5%) and ventricular septal defect (64 / 3.4%). Conclusion: The frequency of congenital malformations diagnosed by ultrasound was 3.3%. The most frequently affected areas were the central nervous, cardiovascular and genitourinary systems.

Range and Frequency of Congenital Malformations Among Children With Cleft Lip and/or Palate.

To assess the range and frequency of additional congenital malformations identified among children born alive with CL/P. Analysis of patient-level data from a national registry of cleft births linked to national administrative data of hospital admissions. National Health Service, England. Children born between 2000 and 2012 receiving cleft care in English NHS hospitals. The proportion of children with ICD-10 codes for additional congenital malformations, according to cleft type. The study included 9403 children. Of these 2114 (22.5%) had CL±A, 4509 (48.0%) had CP, 1896 (20.2%) had UCLP, and 884 (9.4%) had BCLP. A total of 3653 (38.8%) children had additional congenital malformations documented in their hospital admission records. The prevalence of additional congenital malformations was greatest among children with CP (53.0%), followed by those with BCLP (33.5%), UCLP (26.3%), and then CL±A (22.2%) ( P < .001). Among those with UCLP, children with right-sided clefts were more likely to have additional malformations than those with left-sided clefts (31.6% vs 23.0%, P < .001). Malformations of the skeletal system and circulatory system were most common, affecting 10.5% and 10.2% of the included children, respectively. A total of 16.8% of children had additional congenital malformations affecting 2 or more structural systems. Congenital malformations are common among children born alive with a cleft, affecting over half of some cleft subgroups. Given the frequency of certain structural malformations, clinicians should consider standardized screening for these children. Establishing good links with pediatric and genetic services is recommended.

A systematic review of maternal diabetes and congenital skeletal malformation.

The magnitude of association of skeletal anomalies with maternal diabetes is not known. The systemic review was done to detect the frequency of congenital skeletal malformations with diabetes mellitus in pregnancy in the literature evidence of the past 50 years. Literature on maternal diabetes and skeletal malformation was searched by two independent authors by following PRISMA guidelines. Strict inclusion and exclusion criteria were followed. After quality assessment, 21 original articles were included. The frequency of congenital malformation, skeletal malformation was extracted from the included studies. 11,574 congenital anomalies were detected diabetic mothers. 1182 skeletal anomalies were noted in 20,11 552 diabetic mothers. The skeletal malformation was noted in 20.4% of total anomalies. The most common skeletal malformation was the defect of the spine (39.9%). The limb deficiency was found in 32.8% of the infants of diabetic mothers. The skeletal malformations were higher, that is, 24.6% in pre-gestational diabetes. The incidence of skeletal malformation from the evidence was 1.5% (range: 0.03-4.27%) in maternal diabetes. Pre-gestation diabetes is more frequently associated with skeletal malformations, which is 1.9% (range: 0.07-5.89%). The association of congenital malformations and skeletal malformations in diabetic pregnancy is significant and hence, effective management of diabetes in childbearing age is essential to reduce this incidence and related long-term morbidity.

DYNAMICS OF FREQUENCY AND PECULIARITIES OF THE STRUCTURE OF CONGENITAL MALFORMATIONS IN SOUTH UKRAINE (MONITORING STUDY)

Background. In Ukraine, the unfavorable demographic situation makes monitoring of the birth rate of children with congenital malformations urgent issue to identify regional features of epidemiology and develop methods for prenatal diagnosis and prognosis. 
 Objective. Objective of this study is to characterize the frequency dynamics, to identify structural features of congenital malformations of newborns in Kherson region over a 20-year period (2000-2019) and to compare the prevalence of various nosological forms of malformations in the region, in Ukraine and in European countries.
 Methods. Research methods: epidemiological, medical-statistical. 
 Results. In Kherson region, the average frequency of congenital malformations over the past 20 years is: for newborns – 31.57±1.25‰; for live births – 31.38±1.11‰; for stillborns – 197.7±0.65 per 10,000. In the structure of defects, cardiovascular malformations are leading (31.77%), musculoskeletal malformations (25.14%), genital malformations (17.5%). Increased prevalence of developmental anomalies in the region is mainly associated with an increase in the frequency of model malformations recorded by EUROCAT (r=0.69, p<0.05). The increase in the total frequency of congenital malformations is caused by increased number of births of children with cardiovascular defects (by 4.67‰), genital defects (by 1.21‰), other congenital malformations (by 1.55‰), multiple malformations (by 0.37‰).
 Conclusion. Monitoring results showed an increase in congenital malformations incidence in Kherson region over a 20-year period by 7.94‰ possibly caused by population decline due to negative natural and mechanical growth. The prevalence of hereditary defects is at the same level. The frequency of some nosological forms significantly exceeds in the region compare to that in Ukraine and Europe: cardiovascular defects – in 1.5 times, genital malformations – in nearly 3 times, musculoskeletal defects – almost twice.

“Clinical masks” of congenital malformations of urinary system in children of early age

Nowadays there is an increase in nephropathy in young children, which is associated not only with environmental impacts, but also with an increase in the incidence of congenital and hereditary caused forms of diseases, an increase in the incidence of mothers, and an improvement in diagnosis. In order to analyze the frequency of congenital malformations of the urinary system in young children under the “clinical masks” of various somatic pathologies, 864 cards of inpatients that were treated in the Early Childhood Department of the Regional Children's Clinical Hospital “OKHMATDYT” during 2013 were analyzed. The authors came to the conclusion that congenital malformations of the urinary system in young children are a frequent pathology, diagnosed in 44.6% of children admitted to the To the Department of the early age for acute pyelonephritis to get 10.3% of all children who were admitted to hospital treatment. The introduction of a two-stage algorithm for the diagnosis of congenital malformations of the urinary system allows us to recognize their various “clinical masks” and timely establish a clinical diagnosis of anomalies. This approach makes it possible to conduct adequate therapy and reduce high rates of childhood morbidity and disability, and has significant medical and social effects.

Prevalence of birth abnormalities and congenital malformations in progenies from parental consanguinity in Rajshahi City Corporation area, Bangladesh

In a series of two separate studies during January through August 2018, various birth abnormalities (BA) from 178 clinical cases and congenital malformations (CMF) from 70 consanguineous marriages (CM) and 100 non-consanguineous marriages (NCM) within the Rajshahi City Corporation (RCC) area have been recorded, analyzed and interpreted. Results demonstrate that frequencies of miscarriages (5.69 vs. 3.00), stillbirths (3.85 vs. 1.00), postnatal deaths (8.97 vs. 1.00), preterm deliveries (29.49 vs. 38.00) and breech births (6.41 vs. 4.00) were significantly greater in CM compared to the NCM counterparts. In addition, both gestational ages and live birth weights of the children from CM were significantly lesser than those recorded from the NCM couples. Of 205 children derived from 70 CM couples 67 were suffering from various CMF, the remaining 138 children were normal. Compared to this, only 2 out of 267 children were affected from 100 NCM couples. Mental retardation (MR) represented the highest CMF (n= 37), followed by cerebral palsy (CP; n= 16), crossed-eyes (CE; n=4), blindness (BL) and microcephaly (MC; n= 3 each), deaf-mute (DM; n= 2), and Down’s syndrome (DS) and syndactyly (SD; n= 1 each). In contrast to the CM cases, the NCM couples had only two affected children, one crossed-eyed girl and the other polydactylous boy. The overall frequency of CMF in CM (32.68) was much higher than that in NCM cases (0.75). In relation to parental consanguinity, the importance of genetic counselling and pre-implantation screening relevant to the present findings has been emphasized in this report.
 Jahangirnagar University J. Biol. Sci. 8(2): 81-91, 2019 (December)

Анализ эпидемиологической картины врожденных пороков развития в регионах Российской Федерации

В статье представлены результаты мониторинга врожденных пороков развития (ВПР) в 23 регионах РФ за период с 2011 по 2018 годы. Отмечается тенденция к увеличению общей частоты ВПР с 84,18 на 10000 рождений в 2011 г. до 102,18 в 2018 г. Получены оценки базовых частот пороков обязательного учета, которые следует использовать как ожидаемые частоты при планировании объема медицинской помощи новорожденным детям с ВПР. The results of congenital malformations monitoring in 23 regions of the Russian Federation for the period from 2011 to 2018 are presented. There is an increasing tendency of the overall frequency of congenital malformations from 84.18 per 10000 births in 2011 to 102.18 in 2018. Estimates of the baseline of selected defects are obtained, which should be used as the expected frequency during planning the volume of medical care for newborns with congenital malformations.

К вопросу об эпидемиологической характеристике врожденных пороков развития в Ивановской области

Врожденные пороки развития (ВПР) вносят существенный вклад в структуру детской заболеваемости, младенческой смертности и инвалидности. Сбор данных о врожденных аномалиях проводится согласно Европейскому стандарту в соответствии с международной классификацией болезней (МКБ-10). Анализ показал, что средняя частота ВПР в регионе за период 2000-2019 г.г. составила 35,05‰. Первое место среди ВПР в Ивановской области занимают ВПР сердца (27,8%), гипоспадия (18,1%) и синдром Дауна (18,1%). Все семьи, занесенные в регистр ВПР, приглашались для медико-генетического консультирования. Congenital malformations make a significant contribution to the structure of child morbidity, infant mortality and disability. Data collection on congenital malformations was perfomed according to the European standard in accordance with the international classification of diseases (ICD-10). It was shown that the average frequency of congenital malformations in the region for the period 2000-2019 was 35.05‰. The first place among congenital malformations in Ivanovo oblast is occupied by congenital heart disease (27,8%), hypospadias (18,1%) and down syndrome (18,1%). All families registered in the register of congenital malformations were invited for medical and genetic consulting in order to conduct periconceptive prevention and to draw up a prenatal diagnosis plan.