Congenital Malformations In Newborns Research Articles

Comparative analysis of the structure of congenital malformations in newborns

Objective. To conduct an analytical assessment of the pattern of congenital malformations in newborns born in 2017 and 2021 in a hospital-based healthcare organization, taking into account the anamnesis of mothers as a possible cause of the formation of a malformation in the fetus.Materials and methods. A retrospective analysis of 90 developmental histories of newborns delivered between January and December 2017 (first group) and 100 histories of newborns born between January and December 2021 (second group) in the maternity hospital of the Gomel Regional Clinical Hospital was conducted.Results. The leading place among congenital malformations (CM) in the studied two groups is occupied by congenital heart defects (CHD) and defects of the urinary system. In the group of newborns with CM delivered in 2017, boys (60%) prevailed, in 2021 — girls (58%). Mothers of the children from the first comparison group were more likely to live in cities (77.7%). When analyzing the extragenital pathology of mothers, data were obtained that the mothers of the children of the first study group most often suffered from cardiovascular, endocrine diseases, diseases of the urinary system. In mothers of the children of the second comparison group, concomitant chronic diseases came out on top. The structure of maternal diseases during pregnancy is diverse, but the only statistically significant indicator was COVID-19 infection, which affected the mothers during pregnancy in 2021. The data on the diagnosis of CM in the fetus by ultrasound examination of a pregnant woman are statistically insignificant, it is impossible to draw a conclusion about the improvement or deterioration of the quality of early diagnosis of CM. The percentage of diagnosis of CM prenatally in 2017 and 2021 was 33.3 and 40%, respectively.Among CHD in percentage, the leading place in both groups is occupied by a defect of the interventricular septum ― 67.7 and 51%. In the structure of defects of the urinary system, a statistically significant defect is kidney dystopia in 2021 (28%). When analyzing malformations of the musculoskeletal system, all indicators were statistically insignificant. Conclusion. As a result of the analysis, it was found that the stable leadership among the CM belongs to the CHD and the CM of the urinary system. The frequency of diagnosis of CM in the fetus by ultrasound examination of pregnant women remains at a fairly low level. Chronic diseases of mother, diseases of the cardiovascular system, endocrine and urinary system, COVID-19 suffered by mother during pregnancy may be a possible cause of the formation of CM in the fetus.

TGFBR1 Variants Can Associate with Non-Syndromic Congenital Heart Disease without Aortopathy.

Congenital heart diseases (CHD) are the most common congenital malformations in newborns and remain the leading cause of mortality among infants under one year old. Molecular diagnosis is crucial to evaluate the recurrence risk and to address future prenatal diagnosis. Here, we describe two families with various forms of inherited non-syndromic CHD and the genetic work-up and resultant findings. Next-generation sequencing (NGS) was employed in both families to uncover the genetic cause. In addition, we performed functional analysis to investigate the consequences of the identified variants in vitro. NGS identified possible causative variants in both families in the protein kinase domain of the TGFBR1 gene. These variants occurred on the same amino acid, but resulted in differently substituted amino acids (p.R398C/p.R398H). Both variants co-segregate with the disease, are extremely rare or unique, and occur in an evolutionary highly conserved domain of the protein. Furthermore, both variants demonstrated a significantly altered TGFBR1-smad signaling activity. Clinical investigation revealed that none of the carriers had (signs of) aortopathy. In conclusion, we describe two families, with various forms of inherited non-syndromic CHD without aortopathies, associated with unique/rare variants in TGFBR1 that display altered TGF-beta signaling. These findings highlight involvement of TGFBR1 in CHD, and warrant consideration of potential causative TGFBR1 variants also in CHD patients without aortopathies.

No association between major congenital malformations and exposure to Kampo medicines containing rhubarb rhizome: A Japanese database study.

Traditional Japanese (Kampo) medicines containing rhubarb rhizome are prescribed for constipation during pregnancy; however, detailed safety information of their use for pregnant women is lacking. The aim of current study was to clarify the association between prescription Kampo-containing rhubarb rhizome (KRR) in the first trimester of pregnancy and congenital malformations in newborns. Using a large Japanese health insurance claims database, we included pregnant women who enrolled the same health insurance society from 3months before pregnancy to the delivery date, who gave birth between 2010 and 2019, and those with data related to their infants. Pregnant women who were prescribed magnesium oxide (MgO), commonly used for constipation, during the first trimester of pregnancy and their infants were extracted as controls. Associations between KRR prescribed in the first pregnancy trimester and major congenital malformations (MCM) in the infants were examined using multivariate logistic regression analysis. Of 75,398 infants, 4,607 (6.1%) were diagnosed with MCMs within the first year after birth. Furthermore, 9,852 infants were born to women prescribed MgO, among whom 680 (6.9%) had MCMs; 450 infants were born to women prescribed KRR, among whom 28 (6.2%) had MCMs. Multivariate logistic regression analysis identified no difference in MCM risk between the two types of prescriptions [crude odds ratio (OR) 0.895, 95% confidence interval (CI) 0.606-1.322, adjusted OR 0.889, 95% CI 0.599-1.320]. In conclusion, the risk of MCMs did not differ between those prescribed KRR or MgO in the first trimester of pregnancy.

Analysis of the factors which may have influenced the incidence of congenital malformations in children born in the province of Warmia and Mazury between 1999 and 2000

<b>Introduction.</b> Congenital malformations have been known about for ages, but the reasons for their development have always been shrouded in mystery. All efforts to explain such reasons as to relating to the natural forces of God’s revenge have not stood the test of time. Still, the knowledge concerning the aetiology of malformations is not complete; we know, however, about many factors which may contribute to their development during various stages of embryogenesis. <b>Aim.</b> The aim of this paper is the analysis of specific factors which may have contributed to the development of congenital malformations in children born in the Province of Warmia and Mazury between the years 1999 and 2000. <b>Materials and methods.</b> The author of this paper, who is involved in the creation of the Polish Register of Congenital Malformations (PRCM), evaluated case records of newborns who had been reported to have been born with congenital malformations. The data recorded in this Register, maintained by the Chair and Department of Medical Genetics at the Medical Academy (at present Medical University) in Poznań, was verified by specialists, and later analysed according to the methodological principles of this work. The analysis included: fetal age and birth weight, mother’s age and education, as well as mother’s place of residence. Statistical analysis was carried out by means of Statistica v.6.1 software. <b>Results and discussion.</b> Congenital malformations were found in 276 boys, with a malformations incidence factor of 166.8/10000 for boys, and in 212 girls, the malformations incidence factor being 136.2/10000 for girls. The higher incidence of congenital malformations in boys was caused by a nearly 10 times higher incidence of urinary system defects. The incidence of congenital malformations in newborns whose mothers resided in cities amounted to 132.9/10000 of newborns born in cities. The incidence of congenital malformations in newborns of mothers residing in the country was 141.9/10 000 of newborns born in the country. It was also noted that the incidence of congenital malformations was 2–3 times higher in children with low birth weight in comparison to the general population. The highest incidence of congenital malformations was found in those children whose mothers were 35 years of age or older at the time of giving birth. Advanced maternal age was the most significant factor in the development of malformations caused by chromosome aberrations. Creating a district map presenting the incidence of malformations may be the first step to further research concerning those specific geographical regions at high risk of congenital malformations. The highest incidence, irrespective of the type of malformation, was observed in the districts of: Mrągowo, Ostróda and Braniewo, whereas the lowest was found in the districts of: Ełk, Olecko and Gołdap, and Giżycko. <b>Conclusions.</b> Having analysed all pertinent data, it was then concluded that: 1. Male sex correlates with the incidence of congenital malformations of the genitals. 2. Low birth weight correlates with an increased incidence of congenital malformations. 3. The incidence of congenital malformations in particular districts is diversified, pointing to the significance of necessary further research in order to identify those specific geographical locations having the highest malformations incidence factors.

Investigation of the protective effect of vitamin K1 on the heart in streptozotocin induced type 1 diabetes model

Maternal and fetal diabetes are directly associated with increased morbidity and mortality risk. Along with this increased risk, the incidence of congenital malformations in newborns also increases depending on the mother’s diabetes. Vitamin K1 is used as a therapeutic and protective agent in diabetes and various clinical conditions. For this reason, it was aimed to investigate the effect of vitamin K1 on chick embryo hearts immunohistochemically and morphologically by creating type 1 diabetes mellitus with streptozotocin in a chick embryo model. In our study, 5 different experimental groups will be created and a total of 50 SPF fertilized eggs, 10 in each group, will be used. The first group will be the control group, the second group will be the diabetes group, and the other three groups will be the treatment groups given different doses of vitamin K1. All solutions will be given on the 12th day ofincubation, and the hearts of all embryos will be analyzed immunohistochemically and morphologically on the 18th day of incubation. It was determined that the weight, length and ventricular thickness of the chick embryo hearts were statistically significantly decreased in the streptozotocin group compared to the control group embryo hearts. It was determined that the heart weights, lengths, and ventricular thicknesses increased depending on the dose of vitamin K1 compared to the streptozotocin group in the groups therapeutically administered vitamin K1 (p<0.05). In addition, caspase-3 expression was also evaluated in our study, and a statistically significant increase was found in the streptozotocin group compared to the control group. Again, as a result of vitamin K1 administration, caspase-3 expressions decreased depending on the applied dose (p<0.05). In conclusion, it was concluded thatthe therapeutically applied vitamin K1 to diabetes mellitus reduces the degenerative and hyperplastic effects of diabetes mellitus.

Association of Congenital Anomalies in Newborns with Maternal and Fetal Factors in North Gujarat Region, India: A Cross-Sectional Analytical Study

Background: Approximately 8 to 15% of perinatal deaths and 13 to 16% of neonatal deaths in India are a result of congenital anomalies. The objective of the research was to study incidence of clinically detectable congenital malformations in newborns delivered at secondary and tertiary hospitals and their association with maternal and fetal factors. Material and methods: This study include all new-borns delivered at secondary and tertiary care hospitals in the Mehsana districts of Gujarat, India from January 1st, 2021 to December 31st, 2021. A total of 6900 consecutive births were examined for visible structural anomalies to determine the overall incidence and distribution of congenital malformations and their association with feto-maternal factors. Results: Total numbers of malformed babies were 90 with incidence of 1.30%. Incidence of malformed babies was 1.54% among mother in the age group of 21-35 years, 3.57% among mother with consanguineous marriage, and 6.67.% among mothers with severe anemia. The incidence was 0.97% in babies <1500 birth weight, 0.97% among live births and 12.5% among preterm babies. Conclusion: Congenital anomalies in newborns are significantly associated with maternal factors like maternal age, consanguinity, previous child with malformation, history of previous abortion and severe anemia and fetal factors such as stillbirth, premature babies, and low birth weight.

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.

Pregnancy outcomes and newborn characteristics in women with follicular fluid thyroid autoantibodies undergoing assisted reproduction.

Higher levels of thyroid autoantibodies in follicular fluid (FF) of thyroid autoimmunity (TAI) positive women are strongly correlated with serum levels and may have effect on the post-implantation embryo development. Literature highlights that levothyroxine (LT4) treatment may attenuate the risk of adverse pregnancy outcomes. The aim of the study was to estimate the pregnancy and newborn outcomes in women with FF thyroid autoantibodies undergoing assisted reproductive technology (ART). The study population included 24 women with confirmed clinical pregnancy, 8 TAI positive and 16 TAI negative women. LT4 supplementation was applied in 20.8% patients, TAI positive. Pregnancy outcomes were: twin pregnancy rate 41.7%, early miscarriage rate 8.3%, late miscarriage rate 4.2%, preterm birth rate 16.7%, term birth rate 70.8%, live birth rate 96.0%. There was significant difference in serum and in FF TgAbs (p< 0.001)between the groups according to TAI, while serum fT3 was lower in the group with TAI (p = 0.047). Serum P4 was higher in LT4 treated group (p = 0.005), with TAI, and newborns in this group had higher birth weight (p = 0.001) and height (p = 0.008). Maternal complications occurred in 23.8% of patients. No congenital malformations in newborns were noted. Thyroid autoantibodies present in FF may have an effect on the post-implantation embryo development, but have no effect on further course of pregnancy. The special benefit of LT4 treatment for successful ART outcome was demonstrated for newborn anthropometric parameters.

Pattern of congenital malformations in new-borns: a hospital based retrospective study

Background: Congenital malformation in new-borns is a major public health problem. Identification of the pattern of congenital malformations and hence control of birth defects is an urgent need.Methods: This retrospective study was carried out in neonatal care unit (NICU) of GMC and RH Patiala, Punjab. All the deliveries conducted from January 2020 to December 2020 were included in the study. All the new born babies were thoroughly examined for the presence of congenital malformations. Detailed maternal history was recorded so as to evaluate association of various maternal risk factors with the congenital malformations. Collected data was analyzed on statistical package for the social sciences (SPSS) software, a p value of less than 0.05 was considered significant.Results: A total of 3962 babies were delivered at GMC and Rajindra Hospital, Patiala during the study period. Out of this, 91 (2.29%) new-borns were identified with congenital malformations. The most common system involved was musculoskeletal 40 (43.9%) followed by central nervous system 24 (26.4%). Among maternal and fetal risk factors; parental consanguinity, maternal under nutrition/obesity, positive history of a congenital anomaly (CA) in the family, and still birth/intrauterine deaths and ambiguous sex of the newborn baby were significantly associated with higher frequency of CAs (p&lt;0.05).Conclusions: Congenital malformations in new-borns becoming the emerging cause of neonatal morbidity and mortality after neonatal infections. Institution of preventive measures with more focus on young mother’s nutrition, provision of health education and early diagnosis of congenital malformations during antenatal period can help to curb the burden of this problem.

CONGENITAL MALFORMATIONS – MARKER OF XENOBIOTICS INFLUENCE OF LOW-INTENSITY

Formation of congenital malformations in many respects occurs under the infl uenceof unfavorable stimuli of the external environment. In its turn, many of the so-called«watch» malformations may be the markers of ecological troubles.Objective – to analyse the frequency of malformation origin in fetuses and newborns forthe period of 2004-2014 under conditions of their parents living in alternative as to thepollution districts of the Chernivtsi region.Material and methods. Complex anthropogenic infl uence on the organism was assessedtaking into account the bioavailability of pollutants in the soil, water and air in certainareas of the region according to the value of the environmental risk factor (CER) proposedby us. Data analysis concerning the general number of newborns with congenitalmalformations for the period 2004-2018 year was carried out. The obtained results of theresearch were analyzed be means of the computer package «Statistica 6» Stat Soft andExcell XP for Windows on a personal computer using parametric and non-parametricmethods of calculation.Results. It has been shown that under conditions of the parents living in areas of ecologicaltrouble(CER≥2.0), the frequency of the development defects in their newborns constituted48.0%, and the total number of such defects was 50.36%. In the case of the parents livingin more favorable environmental conditions (CER&lt;2.0), the frequency of malformationsdevelopment constituted correspondingly 36.3% and 39.0% (p&lt;0.05). Correlationof chances (CCh) of the congenital malformations in newborns, whose parentspermanently lived in the zones of ecological risk in relation to the group of comparison became 1.62 (95% CI: 1-2.6) CI (confi dential interval), and for the native populationCCh was 1.59 (95% CI: 1-2.8).Conclusion. In case of the prolong parents’residence in the regions with high riskof infl uence on their organism of ecological factors of low density, gross (watch)malformations, recommended to the obligatory register EUROCAT, were formed in thenewborns more often than in the group of comparison.

Prevalence and maternal risk factors of congenital malformations in newborns from Sergipe, Northeastern Brazil

Introduction: Due to the importance of infant death caused by congenital malformations worldwide, more studies are necessary to determine the prevalence of these disorders serving as the basis for more effective control measures. Objective: To determine the prevalence and evaluate maternal risk factors for congenital malformations in newborns. Methods: A cross-sectional and retrospective study was performed in the reference maternity hospital for high-risk pregnancies in the state of Sergipe, northeastern Brazil. Data were collected from the medical records and declarations of live births of 16,518 births between January 2014 and December 2016, being included children with identified congenital malformations. Data were analyzed using the odds ratio, chi-square, and Fisher's exact test with p&lt;0.05. Results: The study population was composed of 369 newborns with congenital malformations, which corresponds to 2.23% of total births. 53.9% were male, 47.9% had low birth weight and, 52.5% had adequate Apgar score. Anomalies affecting the musculoskeletal system were the most prevalent (30.9%), with polydactyly being the most frequent (53.5%). The number of prenatal consultations, education, and gestational age were the main observed maternal risk factors of congenital malformations. Anomalies of the circulatory system (OR=3.2 CI95% 1.3-7.84), multiple malformations (OR=9.24 CI95% 3.07-27.83), and chromosomal syndromes (OR=2.72 CI95% 1.48-5.01) were the most commonly associated with newborn deaths. Conclusion: The study presents the prevalence and risk factors related to malformations in the state of Sergipe, and improvements on maternal care and socioeconomic variables are important to decrease the number of malformations cases in Brazil.

ДИНАМИКА И СТРУКТУРА ВРОЖДЕННЫХ ПОРОКОВ РАЗВИТИЯ И НАСЛЕДСТВЕННЫХ ЗАБОЛЕВАНИЙ У ДЕТЕЙ В КУРСКОЙ ОБЛАСТИ

The article presents analysis of congenital malformations and hereditary diseases in newborns of Kursk region from the position of public health. Methodology of work includes retrospective analytical study of screening lists and discharge records in case-histories of the Regional perinatal center of Kursk; content-analysis of medical-statistical reports of the medical-genetic consulting center of Kursk regional clinical hospital. In the result of the study there were detected trends in main congenital pathologies of newborns in Kursk region during the years 2015-2019, as well as structure of birth defects by localization. The most prevalent congenital malformations in newborns in Kursk region were cardiovascular pathology, urinary system anomalies, chromosome diseases and central nervous system anomalies. Factors detected as associated with congenital malformations in newborns included low birth weight and living in rural area. The results of the study are applicable for the development of public health programs aimed at improvement of preventive services and organization of medical care for children with birth defects.

Effect of Anthropogenic Atmospheric Pollutants on the Prevalence of Congenital Malformations in Newborns

Rationale.The congenital malformations are the important indicator of the environmental condition, and the anthropogenic pollution of the atmosphere effects strongly the incidence of malformations in the newborns.Purpose of the Study.It is the study of the cause-and-effect relationship between the incidence of malformations in newborns and anthropogenic atmospheric pollutants using the correlation and variance methods, and the development of the mathematical models to predict the formation of the congenital malformations depending on the specific pollutants.Material and methods.The correlation and variance methods were used to study the relationships of the main anthropogenic atmospheric pollutants with the incidence of the congenital malformations in all newborns in Belgorod city in 2000–2015. The predictive models were developed based on the regression method.Results.The most effect of the excess of the maximum allowable average daily concentrations of ammonia and carbon monoxide in the atmosphere on the prevalence of the congenital malformations of various systems and organs was determined with 11 reliable correlations with the congenital malformations studied and those in general. According to the results of the analysis of variance, the maximum level of the combined effect of the anthropogenic air pollutants was revealed for the congenital malformations of the musculoskeletal system (95.69%), face and neck (94.66%), central nervous system (92.31%), digestive system (93.76%).Conclusion.The regression models created at the level required assure the prediction of the various forms of the congenital malformations depending on the anthropogenic pollutants.

Prevalence, Pattern and Outcome of Congenital Malformations among Neonates Seen at a Tertiary Health Institution in Yenagoa

Background: Congenital malformations (CM) are significant causes of childhood morbidity and mortality impacting negatively on the affected family’s emotional and financial life. It also results in an enormous burden on a nation’s health and socio-economic systems. However, few studies on CM have emanated from developing countries including Nigeria and specifically from Yenagoa, Bayelsa State which is located in the oil rich Niger Delta region. We therefore analyzed the prevalence, pattern and outcome of management of babies with CM seen at the Neonatal unit (SCBU) of the Federal Medical Centre, Yenagoa. This could be used as evidence for policy makers to develop and implement CM surveillance, prevention and supportive programs.&#x0D; Methods: This was a descriptive observational study of all neonates with CM admitted into the Special Care Baby Unit (SCBU) over a one year period from 1st February 2017 to 31st January 2018. Identification and confirmation of congenital anomalies was done by physical examination, diagnostic investigations and surgical interventions. The conditions were classified organ and system-wise except for the chromosomal abnormalities. The prevalence and pattern of defects were determined, while factors related to the outcome of the anomalies were calculated with odds ratio and 95% confidence interval. Data entry and analysis were performed using excel and SPSS version 22.&#x0D; Results: Among the 502 newborn admissions during the study period, congenital anomalies were found in 61 newborns, giving a prevalence rate of 12.2% with a female preponderance of 55.7%. The commonest CM were those related to the cardiovascular system (47.5%) followed by the digestive system (32.8%) then musculoskeletal system (19.7%). The mean duration of care was 9.7± 9.0 days with mortality of 30.5% recorded at that period. Babies with CM affecting the cardiovascular system and chromosomal anomalies were less likely to survive although these relationships were not statistically significant (p &gt; 0.05). However, duration of care showed a statistically significant relationship with outcome as babies who spent one day and less in the neonatal unit had reduced odds of a favourable outcome (OR – 0.07). An increased odd of survival (OR – 2.09) was seen in babies with only one congenital birth defect.&#x0D; Conclusion: A high prevalence of Congenital malformations in newborns was demonstrated in this study. This has highlighted the need for a well-designed surveillance, prevention and supportive hospital, State and National programme for affected babies and their families.

A prospective study on congenital anomalies at birth at a tertiary care teaching hospital in Bihar

Background: Birth defect, also known as congenital anomaly, is a condition present at birth regardless of its cause. They may be structural or functional including metabolic disorders. Congenital anomalies are the important causes of stillbirth, infant and childhood deaths, chronic illness, and long-term disability. Congenital anomalies or birth defects are still not considered a significant health problem in India as they are low in the prevalence. However, scenario is changing fast. Data on the prevalence of congenital anomalies are needed to channelize the health service for the prevention and management. The objective was to study the prevalence of congenital malformations in new-borns and the associated factors.Subjects and Methods: This is a prospective study undertaken on women admitted in labor room of PMCH, Patna, from June 2018 to May 2019. All live and still born babies with congenital anomalies were included in the study. Sociodemographic factors and information of antenatal checkup of mothers recorded.Results: Out of the total 6647 deliveries, 82 babies were malformed. Incidence was 1.33%. Live babies were 60, whereas 22 were still born. The incidence was higher in multigravidas and age more than 30 years. Neural tube defect was the most common.Conclusions: Birth defect surveillance at a larger level is required to understand it's magnitude in India. Most anomalies are preventable. Prevention and management of nutritional deficiency and medical disorders such as diabetes, hypothyroidism, and cardiac diseases can reduce the incidence. Regular antenatal care, folic acid supplementation, and vaccinations should be promoted.

Congenital Zika syndrome: A systematic review.

The signs and symptoms of Zika virus infection are usually mild and self-limited. However, the disease has been linked to neurological complications such as Guillain-Barré syndrome and peripheral nerve involvement, and also to abortion and fetal deaths due to vertical transmission, resulting in various congenital malformations in newborns, including microcephaly. This review aimed to describe the o signs and symptoms that characterize the congenital Zika syndrome. A systematic review was performed with a protocol and described according to the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. The search strategy yielded 2,048 studies. After the exclusion of duplicates and application of inclusion criteria, 46 studies were included. The main signs and symptoms associated with the congenital Zika syndrome were microcephaly, parenchymal or cerebellar calcifications, ventriculomegaly, central nervous system hypoplasia or atrophy, arthrogryposis, ocular findings in the posterior and anterior segments, abnormal visual function and low birthweight for gestational age. Zika virus infection during pregnancy can cause a series of changes in the growth and development of children, while impacting the healthcare system due to the severity of cases. Our findings outline the disease profile in newborns and infants and may contribute to the development and updating of more specific clinical protocols.

Early Screening for Gestational Diabetes Using IADPSG Criteria May Be a Useful Predictor for Congenital Anomalies: Preliminary Data from a High-Risk Population.

Background: Our aim was to investigate whether the International Association of the Diabetes and Pregnancy Study Groups (IADPSG) glycemic thresholds used for detecting hyperglycemia in pregnancy can be predictive for malformations in women with hyperglycemia detected in early pregnancy. Methods: a single-center, retrospective observational trial of 125 mother-infant pairs from singleton pregnancies with hyperglycemia according to the IADPSG criteria diagnosed at the gestational age below 16 weeks. Glucose values obtained from 75-g OGTT (oral glucose tolerance test) were investigated as predictors for congenital malformations in newborns. Results: Characteristics of the cohort: maternal age: 31.5 ± 5.2, pre-pregnancy body mass index (BMI) ≥ 30 kg/m2: 42.0%, gestational age at diagnosis (weeks): 12.0 ± 4.0, and newborns with congenital malformations: 8.8%. Fasting blood glycemia (FBG) and HbA1c (Haemoglobin A1c) at baseline significantly predicted the outcome (expB: 1.06 (1.02–1.1), p = 0.007 and expB: 2.05 (1.24–3.38), p = 0.005, respectively). Both the fasting blood glucose (FBG) value of 5.1 mmol/dL (diagnostic for gestational diabetes mellitus (GDM)) and 5.5 mmol/dL (upper limit for normoglycemia in the general population) significantly increased the likelihood ratio (LR) for fetal malformations: 1.3 (1.1; 1.4) and 1.5 (1.0; 2.4), respectively. Conclusions: (1) Fasting glycemia diagnostic for GDM measured in early pregnancy is associated with a significantly elevated risk for congenital malformations. (2) Our data suggest that women at elevated risks of GDM/diabetes in pregnancy (DiP) should have their fasting blood glucose assessed before becoming pregnant, and the optimization of glycemic control should be considered if the FBG exceeds 5.1 mmol/dL.

De novo congenital malformation frequencies in children from the Bryansk region following the Chernobyl disaster (2000–2017)

BackgroundIonizing radiation and chemical pollution can disrupt normal embryonic development and lead to congenital malformations and fetal death. We used official government statistical data for 2000–2017 to test the hypothesis that radioactive and chemical pollutants influenced the frequency of de novo congenital malformations in newborns of the Bryansk region of southwest Russia. MethodsA variety of statistical approaches were used to assess congenital malformation frequencies including the Shapiro-Wilk test, White's homoscedasticity test, Wilcoxon T-test, Spearman's rank correlation test, and the inversely proportional regression. ResultsWe found that the frequency of polydactyly, multiple congenital malformations, and the frequency of de novo congenital malformations in newborns were significantly higher (p = 0.001–0.054) in regions with elevated radioactive, chemical and combined contamination. Polydactyly, multiple congenital malformations, and the sum of all congenital malformations were 4.7–7.4 times, 2.5–6.8 times, and 3.5–4.6 times higher in contaminated regions in comparison with the control group. The combination of both radioactive and chemical pollutants led to significantly higher frequencies of multiple congenital malformations when compared to regions with only one pollutant (radiation alone: 2.2 times, p = 0.034; chemical pollutants alone: 1.9 times, p = 0.008) implying that the effects of these stressors were at minimum additive. Although there was a trend for decreasing frequencies of multiple congenital malformations during the 2000–2017 period in areas of combined pollution, the opposite was true for regions with radioactive or chemical pollutants alone. However, overall, our models suggest that the frequency of multiple congenital malformations in areas of combined pollution will significantly (p = 0.027) exceed the frequencies observed for regions containing radioactive or chemical pollutants alone by 39.6% and 45.7% respectively, by 2018–2023. ConclusionThese findings suggest additive and potentially synergistic effects of radioactive and chemical pollutants on the frequencies of multiple congenital malformations in the Bryansk region of southwestern Russia.

INCIDENCE OF CONGENITAL MALFORMATIONS AMONG NEWBORNS IN ECOLOGICALLY UNFAVORABLE TERRITORIES OF THE BRYANSK REGION (2000-2017)

The aim of the study was to assess the incidence congenital malformation of congenital malformations in newborns in territories of the Bryansk region with different levels of radioactive, chemical and combined environmental pollution using official statistics for the period 2000-2017. Methods: Shapiro-Wilk test, White test, Wilcoxon T-test, Spearman rank correlation test and regression models were used to study associations between radioactive, chemical and combined pollution and the incidence of congenital malformations in the region and prognosis using the inverse relationship. Results. The incidence of polydactyly, multiple congenital malformations and the amount of de novo birth defects in newborns is significantly lower in the most ecologically favorable districts than in areas with radiation, chemical and combined pollution. For polydactyly - at the level of significance (p), 0.003-0.023 (decrease by 4.7-7.4 times), for the amount of multiple congenital malformations - 0.001-0.054 (2.5-6.8 times) and for amount of de novo birth defects - 0.0010.007 (3.5-4.6 times). Statistically significant differences were found in the incidence of multiple congenital malformations in the conditions of combined pollution in comparison with similar indicators in the territories of radioactive (2.2 times, p = 0.034) and chemical (1.9 times, p = 0.008) pollution (values 1.48; 0.67 and 0.78). A decrease in the long-term trend of frequency of multiple congenital malformations in the period 2000-2017 was revealed on the territories of combined pollution, and increase - on territories of radioactive and chemical pollution. Nevertheless, the predicted values of the frequency of multiple congenital malformations on the territories of combined pollution by 2018-2023 will significantly (p = 0.027) exceed the indicators of the territories of radioactive and chemical pollution by 39.6 and 45.7 % (values 1.18; 0.845; 0.81). Conclusions. Our results suggest synergistic effect of radiation and chemical pollution on the incidence of multiple congenital malformations.

Comparative evaluation of the prevalence of congenital malformations de novo in newborns from radiation-contaminated territories of the Bryansk region (1999-2014)

On the basis of official statistics for 1999-2014 there was performed the comparative evaluation of the prevalence of congenital malformations de novo: polydactyly, reduction limb defects and multiple congenital malformations in newborns of radiation-contaminated areas of the Bryansk area residing in areas with the various density of radioactive contamination by long lived radionuclides cesium-137 (from 10.0 to 2523.4 kBq/m) and strontium-90 (from 0.7 to 42.5 kBq/m). The findings showed no statistically significant differences in the prevalence of polydactyly, reduction limb defects and multiple congenital malformations in newborns in the South-Western areas compared to medium regional values, although the maximum value of the amount of congenital malformations de novo is found in most radiation-contaminated areas.