Congenital Anomalies In Newborns Research Articles

Frequency of major congenital malformations in neonates born in three tertiary care hospitals of Pakistan.

Objective: To assess the frequency of major congenital anomalies in newborns delivered in three different hospitals of Pakistan. Study Design: Cross Sectional study. Setting: Department of Pediatrics Hameed Latif Teaching Hospital, Lahore, Ittefaq Hospital Lahore and HITEC-IMS Taxilla. Period: Jan 2023 to November 2023. Methods: 205 neonates who met the inclusion criteria were included in the study from labour room of Hameed Latif Teaching Hospital Lahore, Ittefaq Hospital Lahore and HITEC-IMS Taxilla. Informed consent was obtained from parents. Demographic variables (name of mother, gender, birthweight and gestational age at birth) were recorded. Then neonates were admitted in NICU and evaluated for presence of congenital malformations including cardiovascular system defects, limbs anomalies, genitourinary system, central nervous system and chromosomal anomalies. All data was entered in specially designed performa. Results: We found that overall gestational age was greater than 32 weeks with mean age of 37.190±2.00 weeks. Mean birth weight was 2.938±0.31 Kg. Frequency and %age of patients according to gender was 60% males and 40% females. Major congenital malformation was seen in 2.9% patients. Among infants with major congenital malformations, cardiovascular system defects were seen in 33.3% infants, limb anomalies 16.7%, genitourinary system 16.7% and central nervous system defects were 33.3%. Parents of 67.7% of cases were cousins. It was observed that only 32.3% of the mothers had taken the recommended daily dose of folic acid in antenatal period. Conclusion: Central nervous system and cardiovascular system defects were the most prominent anomalies detected. Prenatal diagnosis may be helpful in decreasing mortality by offering early termination.

Examining the Prevalence of Congenital Anomalies in Newborns: A Cross-Sectional Study at a Tertiary Care Maternity Hospital in Saudi Arabia.

Background: Congenital anomalies, representing structural or functional abnormalities present at birth, pose a substantial global health challenge, affecting 8 million newborns annually. With 3.3 million succumbing before age five and 3.2 million facing physical or mental disability, their diverse causes necessitate comprehensive understanding for effective healthcare planning. This study explores the prevalence of congenital anomalies among newborns in the Abha Maternity and Children Hospital (MCH) in Abha, Kingdom of Saudi Arabia. Methodology: A descriptive cross-sectional record-based study was conducted on newborns born between 2018 and 2022. Data were gathered in 4 months from September to December 2023. Purposive sampling was employed to select the case records of newborns with congenital anomalies after careful screening and considering inclusion and exclusion criteria. Data was acquired through a self-designed study tool, and the data were entered into Google Forms. Results: Congenital anomalies' five-year prevalence was 3.21%, and one year, in 2022, the prevalence was 4.02%. Female neonates exhibited higher anomalies (59.3%), and preterm births accounted for 39.6%, emphasizing their vulnerability. The findings indicate that consanguineous marriages are linked to 63.3% of anomalies, notably neural tube defects (25%) and congenital heart diseases (19.7%). Anomalies are not significantly associated with consanguinity or birth order, but maternal age, education, employment, and antenatal maternal medical issues are associated considerably. Conclusions: These study insights contribute to health planners planning targeted interventions and awareness programs that are crucial to mitigate risks associated with preterm births and consanguineous marriages. The promotion of 100% antenatal screening and prophylactic medication for high-risk women and couples is necessary to prevent inherited deformities. In future the Ministry of Health must plan large-group prospective research to better understand the associated risk factors that will help public health initiatives minimize congenital-associated neonatal mortality and improve pregnancy outcomes.

No additional risk of congenital anomalies after first-trimester dydrogesterone use: a systematic review and meta-analysis.

No additional risk of congenital anomalies after first-trimester dydrogesterone use: a systematic review and meta-analysis.

Growth and Development of Children with Congenital Heart Disease: Nutrition

The term; Congenital Heart Disease (CHD) encapsulates congenital or post identified anomalies in cardiovascular system. A structural defect in the heart is classified as a congenital heart defect, congenital heart anomaly, or cardiovascular malformation. CHD constitutes the most common congenital anomalies in newborns. CHD emerge 8-12 of every 1000 births, making the occurrence frequency 1%. Amongst children, CHD anomaly is on critical level for 10-15 % and occurrence frequency is 1.2-1.7 CHD findings may be listed as; feeding difficulty, anoxia, heart failure, tachypnea, pulmonary hypertension, abnormal endocrine functions and upper respiratory tract infections. Besides the characteristics findings of the disease, children additionally observed of having malnutrition and growth and development deficiency. Children with CHD have a lower weight compared to their normal peers, and their neuromotor and language development is weaker along with that, growth retardation accompanied by short stature is also observed in these children. Malnutrition is observed in 25-55% of children with CHD, and 80% of them are reported to have been hospitalized. Due to the direct impact on growth, the importance of nutrition for children with heart disease is emphasized. Pediatric nurses and dietitians work in collaboration to monitor the nutrition and, accordingly, growth and development of children with CHD. They create a nutrition plan that supports energy intake for the child's individualized regime appropriate to their age group. In the ongoing process, they monitor the child's daily weight and growth and development levels. In this way, they aim to reduce mortality and morbidity rates by accelerating the post-operative recovery of children with CHD.

Incidence and Types of Congenital Anomalies in Newborns of Yazd Hospitals during Six Years (2016- 2021) Based on National Mother and Newborn Health Registration System

Background: Congenital anomalies are responsible for a remarkable proportion of disability and mortality in newborns. Therefore, the aim of this study is to investigate the incidence and types of congenital anomalies in newborns born in Yazd hospitals during the years 2016 to 2021.
 Methods: In this cross-sectional descriptive study, the data of all live births from 2016 to 2021 in hospitals of Yazd were extracted from the database of the National Mother and Newborn Health Registration System of Shahid Sadoughi University of Medical Sciences.
 Results: From a total of 151,566 live births during six years, congenital anomalies were seen in 1338 (0.88%) newborns. The most common congenital anomalies involved the cardiovascular system (0.31%), followed by musculoskeletal anomalies (0.16%), gastrointestinal tract (0.14%), and genital system (0.1%), respectively. The incidence increased from 0.63% in 2016 to 1.05% in 2021, with the highest incidence observed in 2020 (1.31%).
 Conclusion: The incidence of congenital anomalies in Yazd is lower than in most studies in Iran. However, shows an increasing trend over the years which can be due to the improvement of diagnostic methods especially in the case of congenital heart anomalies. However, more extensive studies on maternal risk factors and neonatal outcomes are needed

Safety of omalizumab in chronic urticaria during pregnancy: a real-life study.

Managing a pregnant patient with chronic spontaneous urticaria (CSU) is often challenging. Recent data have shown that most CSU treatments in pregnant patients are second-generation H1 antihistamines (sgAHs), while data on the safety of omalizumab are scant. To evaluate, in a routine clinical practice setting, the efficacy and safety of omalizumab in patients with severe CSU refractory to sgAHs who either became pregnant during treatment or who started the drug during pregnancy. We conducted a retrospective study of women aged ≥ 18 years who were pregnant, who received one or more doses of omalizumab at any time during their pregnancy or who were taking omalizumab at the time of, or in the 8 weeks before, conception. Twenty-nine pregnant patients were evaluated: 23 (79%) conceived a child while taking omalizumab (group A), while 6 (21%) started omalizumab treatment during pregnancy (group B). Among patients in group A, we observed 23 births (21 liveborn singletons and 1 liveborn twin pair) and 1 miscarriage. Fifteen (65%) patients discontinued omalizumab after confirming their pregnancy, while eight (35%) were exposed to omalizumab during their entire pregnancy. In group B, omalizumab was introduced at a mean (SD) 10.83 (3.60) weeks' gestation and all patients were exposed to it until the end of pregnancy. In this group, there were seven liveborn infants (five singletons and one twin pair). No adverse events, pregnancy complications or congenital anomalies in newborns were recorded in either group. Omalizumab for CSU treatment before and during pregnancy does not appear to have negative effects on maternal or fetal outcomes.

Incidence of Hearing Loss in Corpus Callosum Agenesis.

Congenital corpus callosum agenesis (CCA) is one of the congenital anomalies in newborns, which usually presents with syndromic features. It can be asymptomatic or have variable neurological deficits. Some studies demonstrated that hearing loss can occur in patients with CCA; however, the exact prevalence remains unclear. Therefore, we aimed to investigate the prevalence of hearing loss in CCA using data from newborn hearing screening in a single tertiary referral center. A total of 126 patients with CCA combined with hearing loss diagnosed at our hospital from November 2005 to November 2022 were retrospectively included in our study. All patients had at least one screening or diagnostic auditory brainstem response result. Brain ultrasonography and magnetic resonance imaging were used to diagnose CCA. Among 126 patients, 93 had automated auditory brainstem response within a month from birth. Of the 93 patients, 20 (21.5%) had a "refer" result in the screening tests in at least one ear. The final incidence of hearing loss in patients with CCA was 16.1%. We observed no hearing loss in 22 patients with isolated CCA. Patients with CCA have a higher incidence of hearing loss. However, this is likely related to the concurrent condition of patients. CCA seems not to be a risk factor for hearing loss.

Congenital anomalies in newborns of mothers exposed to teratogenic agents during pregnancy

Congenital modifications are characterized by an interaction between chemical, physical agents or pathogenic organisms, with the embryo in formation, with or without hereditary influence, being conceptualized mainly by changes in cell growth and multiplication, which are called teratogenic agents. . The study aimed to search the literature for the relationship between the main teratogenic agents and fetal congenital anomalies. This is a systematic review of the literature, in which a search was carried out in the following databases: LILACS and BDENF via VHL; MEDLINE via Pubmed, and the Scielo portal. Articles published between 2017 and 2022 were used. Anomalies resulting from teratogens are mostly avoided with an effective monitoring and health education process in the prenatal period. However, research has shown that the main teratogenicities are due to pharmacological agents. The study serves as a warning to pregnant women, as well as an incentive to build new research within the theme.

Influence of Atmospheric Air Pollution on Frequency of Congenital Anomalies (on an example of a region)

INTRODUCTION: Atmospheric air pollution is the underlying factor of a great number of human diseases in both industrialized and developing countries. Studies show that exposure to atmospheric pollutions in pregnancy can be associated with an increased risk of congenital anomalies (CAs).
 AIM: To analyze the impact of atmospheric air pollutants in Ryazan city on the incidence of CAs in newborns.
 MATERIALS AND METHODS: The data of monitoring of CAs by Ryazan Regional Perinatal Center; information on atmospheric air pollution of the Federal Service for Hydrometeorology and Environmental Monitoring, of Ryazan Center for Hydrometeorology and Environmental Monitoring, of Rospotrebnadzor of the Ryazan region are presented. The statistical analysis was conducted using free R computing environment (ver. 4.1.2).
 RESULTS: In 2019, the prevalence of CAs in Ryazan was 24.09 per 1,000 newborns; in the period 20102021, the absolute number of recorded CAs grew by 244.57%. The most common congenital anomalies were Q21.0 Ventricular septal defects (28.5%, 95% CI: 20.836.2%) and Q62.0 Congenital hydronephrosis (7.3%, 95% CI: 2.911.7%). Correlation was recorded with such air pollutant as sulfur dioxide (SO2) in the second month of pregnancy (AOR 1.39; 95%; CI 1.051.83, p 0.05) and the third month of pregnancy (AOR 1.59; 95% CI 1.172.16, p 0.05). No statistically significant relationship was established between CAs and carbon monoxide (CO), nitrogen dioxide (NO2) and ozone (O3, p 0.05).
 CONCLUSION: The study confirms the association between atmospheric air pollution and frequency of CAs. In particular, SO2 has a negative effect in the second and third months of pregnancy. In this context, it is important that the authority bodies of the region and governmental regulatory agencies direct their efforts to reduction of the pollution of the environment which should help reduce the frequency of CAs in children.

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.

The incidence of congenital anomalies in newborns before and during the Covid-19 pandemic

BackgroundPregnant women are one of the most vulnerable groups in the Covid-19 pandemic. Due to the lack of knowledge about fetal and perinatal complications following Covid-19 infection, the association of Covid-19 pandemic and congenital anomalies in babies conceived and born during this pandemic is unclear. Current study aimed to investigate the association between the Covid-19 pandemic and congenital birth anomalies in Iran. The population of newborns whose embryonic period coincided with the Covid-19 crises were compared with a similar group born during the pre-Covid-19 period.MethodsThis is a retrospective comparative analysis of congenital birth anomalies in Iran; desired data was extracted from national birth registry database. All registered congenital anomalies in hospital births were compared between two time periods: During Covid-19 (1st November 2020- 28th February 2021) and Before Covid-19 (1st November 2019-29th February 2020). Incidence of congenital anomalies at birth were compared and analyzed between these two time periods.ResultsThe incidence of congenital birth anomalies are significantly increased during Covid-19 pandemic compared with before Covid-19 (P value < 0.00001). The number of all types of anomalies has increased in the current pandemic, but the congenital anomalies of the central nervous system (P value = 0.04) and Genitourinary (P value = 0.03) have a larger contribution than before.ConclusionCovid-19 pandemic are associated with congenital anomalies at birth. There are several factors in the Covid-19 pandemic which can affect fetal development in the first trimester of pregnancy. Possible reasons include vertical transmission of Covid-19 infection; maternal fever, stress and anxiety; insufficient preconception and prenatal care; neglect of fetal screening; and poverty imposed by this pandemic.

Mid-term to Long-term Follow-up Results of Reconstruction for Thumb Radial Polydactyly.

Preaxial or radial polydactyly is one of the most common hand congenital anomalies in newborns. Contemporary reconstruction methods include ligament reconstruction, excision of the polydactylous thumb, osteotomy, and other surgical techniques according to the type of polydactyly. The purpose of this study was to report mid-term to long-term reconstruction results for thumb (radial) polydactyly. We retrospectively reviewed the medical records of patients who underwent reconstruction surgery for preaxial polydactyly. Clinical outcomes, including the range of motion (ROM), pain, and complications, were evaluated. We assessed the final radiographs of the reconstructed thumb to identify the potential development of arthritis or other remaining deformities. After excluding cases without a simple radiograph and cases with a short follow-up period of fewer than 5 years, 26 thumbs were included. The surgical technique followed including excision of polydactylout thumb was tailored to the type of polydactyly. If the nail size of the thumbs was similar, the Bilhaut-Cloquet method was preferred. The mean age of the patients at the surgery and final follow-up was 14.9 months (range: 8 to 30mo) and 11.9 years (range: 5.8 to 19.3y), respectively. The mean follow-up was 128.8 months years (range: 60 to 219mo), and the mean ROM of the thumb was 32.7 and 57.5 degrees in the distal interphalangeal joint (DIP) and metacarpophalangeal (MP) joint, respectively. Ulnar or radial side instability was prominent in 7 patients in the involved joints (26.9%). One patient underwent interphalangeal (IP) fusion for extension lag with pain. The radiologic evaluation revealed that 2 patients developed radiographic evidence of IP joint arthritis (7.7%). Radial deviation of the MP or IP joint existed in 13 cases (range: 5 to 40 degrees) (50.0%), and ulnar deviation of the MP or IP joint existed in 2 cases (range: 19 to 20 degrees) (7.7%). In mid-term to long-term experience, sequelae such as joint instability, joint stiffness, and remaining deformity cannot be neglected. An unstable MP joint may result if the DIP joint remains stiff or has a lower ROM. Level IV-therapeutic studies.

Burden and pattern of congenital anomalies in newborns in a tertiary care hospital

Background: Anomaly is defined as a significant morphological or anatomic variation in the phenotype from the standard reference population. Objectives of current study was to investigate the incidence and pattern of congenital anomalies in the hospital delivered neonates, JNMCH, AMU, Aligarh.Methods: All the newborns delivered during the study period from October 2019 to November 2021 at JNMC, AMU, Aligarh were thoroughly examined and assessed for the presence of any congenital anomalies. Neonatal and maternal parameters were recorded in a predesigned proforma. Relevant investigations in the form of X-ray, ultrasonography and echocardiography were carried out in case of any suspected anomaly.Results: Out of the total 10932 neonates delivered during the study period, 197 babies had congenital malformations including 166 live births and 31 still births with an incidence of 1.8%. Musculoskeletal system was the most commonly system involved and congenital talipes equinovarus was the single most common malformation. Higher incidence of malformation was seen to be associated with still birth, prematurity, male gender and low birth weight babies.Conclusions: Regular antenatal checkups and anomaly scans can detect congenital malformations early. Pre conceptional counselling about maternal age at conception and birth order may help in preventing malformations associated with syndromes such as Down’s and Edward syndrome. Peri conceptional folate supplementation can prevent CNS malformations such as Neural tube defects significantly. Early diagnosis and treatment of maternal disease conditions like anemia, preeclampsia, hypertension and diabetes may affect occurrence of malformations.

Incidence and Associated Factors of Major Congenital Anomalies in Newborns in Chaharmahal and Bakhtiari, Southwest of Iran.

Congenital anomalies are among the causes of disability and death in infants. This study aimed to determine the incidence of major congenital anomalies (MCA) recorded at birth and also their relationship with some related factors in neonates born. In this cross-sectional study, all infants born from March 2016 to March 2017 in the hospitals of Chaharmahal and Bakhtiari Province were evaluated for MCA at birth. Information recorded in the medical file including parent and infant characteristics is extracted from the maternal and newborn electronic files. Data were analyzed using Generalized Linear Model with function of Poisson. Of the 19666 newborns studied, 63 (3.2 per 1000) had MCAs at birth. Variables such as number of pregnancies, parity, gestational age, neonatal birth weight, height, and head circumference were found to be significantly associated with MCA based on the crude model (P value < 0.05). Using adjusted model 1, the incidence of MCA was found to be significantly related to mother's place of residency and her parity. Finally, in adjusted model 2, the incidence of MCA was found to be related to gestational age, neonatal birth weight, and head circumference. In some MCA, early diagnosis and treatment can prevent disability. Consequently, the emphasis on public education to consider appropriate gestational age, proper nutrition before and during pregnancy, and prenatal care is necessary to inhibit MCA.

Congenital Anomalies in Newborns: Review Article

Congenital Anomalies in Newborns: Review Article

A Living Cell Repository of the Cranio-/Orofacial Region to Advance Research and Promote Personalized Medicine.

The prevalence of congenital anomalies in newborns is estimated to be as high as 6%, many of which involving the cranio-/orofacial region. Such malformations, including several syndromes, are usually identified prenatally, at birth, or rarely later in life. The lack of clinically relevant human cell models of these often very rare conditions, the societal pressure to avoid the use of animal models and the fact that the biological mechanisms between rodents and human are not necessarily identical, makes studying cranio-/orofacial anomalies challenging. To overcome these limitations, we are developing a living cell repository of healthy and diseased cells derived from the cranio-/orofacial region. Ultimately, we aim to make patient-derived cells, which retain the molecular and genetic characteristics of the original anomaly or disease in vitro, available for the scientific community. We report our efforts in establishing a human living cell bank derived from the cranio-/orofacial region of otherwise discarded tissue samples, detail our strategy, processes and quality checks. Such specific cell models have a great potential for discovery and translational research and might lead to a better understanding and management of craniofacial anomalies for the benefit of all affected individuals.

The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia.

Congenital anomalies are a worldwide health problem that places a burden on the family and society. Chromosome abnormalities are one of the leading causes for congenital anomalies in newborns. Despite the remarkable development in cytogenetic services in the past years, still there are limited data from Middle East countries. The current study aimed to evaluate the prevalence and patterns of chromosomal aberrations in newborns admitted to the neonatal intensive care unit (NICU) with major congenital anomalies at Medina province in the western region of Saudi Arabia. Out of 2,541 live births, 150 newborns were selected based on the presence of major birth defects. Demographic and clinical data were collected from hospital medical records and statistically analyzed. The prevalence of major congenital anomalies was 10.7/1,000 live births (95% CI: 9.076- 12.583). The most common congenital anomalies in descending order were congenital heart disease, musculoskeletal and chromosome abnormalities. The birth prevalence of chromosome abnormalities was 4.22/1,000 live births (95% CI: 3.211-5.441). The most common chromosome abnormality was Down syndrome-nondisjunction type (66%). Advanced parental age was strongly associated with chromosome aberrations (p < 0.001) while consanguinity was evident in cases with normal karyotype (p < 0.001). High birth prevalence of chromosome abnormalities in newborns with congenital anomalies in Al Madinah was evident and advanced parental age is a potential risk factor. A local registry system for congenital anomalies is highly recommended to provide proper health services to high risk families.

Incidence of congenital anomalies in newborns born to mothers with heart disease

Background: Heart disease is seen in 1% pregnancies. Prior studies have either looked at only the prevalence of congenital heart diseases (CHD) in newborns or the congenital anomalies (CA) in babies born to those with chronic medical disorders as a whole. There is only sparse literature looking specifically at their prevalence in mothers with heart disease.Methods: We aimed to study incidence of CAs in newborns born to mothers with heart disease and to study other relevant outcomes like prematurity, low birth weight and intrauterine growth retardation which have significant associations with CAs. The present study was a descriptive study consisting of retrospective and prospective data and consisted of pregnant women with heart disease from 2006 to 2010 and their newborns.Results: 55 pregnant women with their 55 newborns were selected. Among the 55 newborns, 15% babies had congenital anomalies including CHD, 13% had only CHDs. 21% babies with CHDs were born to CHD mothers and none of the mother baby diagnosis was completely concordant. No statistically significant outcome of CA in newborns born to mothers with heart disease was found. No statistically significant associations among low birth weight, prematurity and CAs was found.Conclusions: 15% had congenital anomalies including CHD. No statistically significant outcome of CA in newborns born to mothers with heart disease was found. Since the study population comprised of a small sample size, significant derivations could not be made. Further studies are required in this direction to see if associations are significant.

Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.

BackgroundThe prevalence of congenital anomalies in newborns in South Korea was 272.9 per 100,000 in 2005, and 314.7 per 100,000 in 2006. In other studies, the prevalence of congenital anomalies in South Korea was equivalent to 286.9 per 10,000 livebirths in 2006, while it was estimated 446.3 per 10,000 births during the period from 2008 to 2014. Several systematic reviews and meta-analyses analyzing the factors contributing to congenital anomalies have been reported, but comprehensive umbrella reviews are lacking.MethodsWe searched PubMed, Google Scholar, Cochrane, and EMBASE databases up to July 1, 2019, for systematic reviews and meta-analyses that investigated the effects of environmental and genetic factors on any type of congenital anomalies. We categorized 8 subgroups of congenital anomalies classified according to the 10th revision of the International Statistical Classification of Diseases (ICD-10). Two researchers independently searched the literature, retrieved the data, and evaluated the quality of each study.ResultsWe reviewed 66 systematic reviews and meta-analyses that investigated the association between non-genetic or genetic risk factors and congenital anomalies. Overall, 269 associations and 128 associations were considered for environmental and genetic risk factors, respectively. Congenital anomalies based on congenital heart diseases, cleft lip and palate, and others were associated with environmental risk factors based on maternal exposure to environmental exposures (air pollution, toxic chemicals), parental smoking, maternal history (infectious diseases during pregnancy, pregestational and gestational diabetes mellitus, and gestational diabetes mellitus), maternal obesity, maternal drug intake, pregnancy through artificial reproductive technologies, and socioeconomic factors. The association of maternal alcohol or coffee consumption with congenital anomalies was not significant, and maternal folic acid supplementation had a preventive effect on congenital heart defects. Genes or genetic loci associated with congenital anomalies included MTHFR, MTRR and MTR, GATA4, NKX2-5, SRD5A2, CFTR, and 1p22 and 20q12 anomalies.ConclusionThis study provides a wide perspective on the distribution of environmental and genetic risk factors of congenital anomalies, thus suggesting future studies and providing health policy implications.

MODERN APPROACHES FOR THE DIAGNOSTICS AND TREATMENT OF NEWBORNS WITH ANORECTAL ATRESIAS (LITERARY DATA AND OWN EXPERIENCE)

Summary. The article is devoted to the problem of anorectal atresias in newborns, which are widespread and ranked first among the causes of disability in children. Based on the results of literature and our own experience, modern approaches to the diagnosis and treatment of congenital anomalies in newborns are presented. The 37 article presents epidemiology, modern views on diagnostics and treatment of main pathology and its complications in newborns. The necessity of improvement and wide introduction of prenatal diagnostics of anorectal atresias as an effective non-invasive method of early diagnostics of pathology is substantiated. The necessity of introduction of a complex of preventive measures at dirth defects, support of modern medical strategies and application of technically advanced methods of correction of a defect are emphasized. Generalization of own experience and modern approaches to the diagnosis, treatment and prevention of birth defects in newborns will be of great theoretical and practical importance for pediatric surgeries who are engaged in the issues of early detection of congenital malformations and their treatment, and to facilitate the coordination of specialists' efforts in improving the effectiveness of prenatal diagnosis of congenital anomalies and reducing lethality