Types Of Congenital Anomalies Research Articles

Pattern of Congenital Anomalies at Birth and their Associated Maternal Characteristics in Combined Military Hospital, Dhaka and Chattogram

Background: Congenital fetal anomalies are an important causes of neonatal morbidity and mortality in developed and developing countries that affect health care system. Knowledge of maternal sociodemographic and antenatal characteristics could identify a pattern of population at risk in order to target preventive interventions. The study aimed to determine the pattern of congenital anomalies in newborns, as well as the associated maternal characteristics at a tertiary level hospital in Dhaka and Chattogram, Bangladesh. Materials and methods: A descriptive cross-sectional study was conducted at Combined Military Hospital, Dhaka and Chattogram between February 2023 to September 2023, February 2021 to September 2021. A total of 50 pregnant women with fetal congenital anomalies admitted to the Department of Obstetrics and Gynaecology were included in this study. Pattern of anomalies and maternal sociodemographic and antenatal characteristics were recorded in a proforma. Results: The mean age of the mother was 27.3±6.4 years. Twenty seven (54%) of the baby were male and 23 were female (gender ratio 1.2:1). More common congenital anomalies were hydrocephalus (26%), anencephaly (22%), cleft lip (6%), cleft lip & palate (6%), polydactyly (6%), and hydrops fetalis (6%). Associated materanl characteristics were high maternal age (34%), consanguinity of marriage (14%), maternal under-nutrition (22%), maternal obesity (6%), exposure to drugs (10%), associated medical conditions (34%), no history of folic acid intake in antenatal period (62%), high grade fever in 1st trimester and history of previous birth defect (8%). Conclusion: Congenital anomalies of the CNS and musculoskeletal or gastrointestinal defects were seen most frequently. More research is required to identify the factors responsible for the different types of congenital anomalies. Chatt Maa Shi Hosp Med Coll J; Vol.23 (1); January 2024; Page 47-51

Prevalence and Types of Congenital Anomalies in Singleton Pregnancies at a Tertiary Care Hospital.

Introduction Congenital malformations are a major cause of perinatal morbidity and mortality in developing countries and are assuming greater importance than ever before. They affect a variety of organ systems and various etiologies have been identified in literature including Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus, Herpes Simplex (TORCH) infections, exposure to pollutants, consumption of tobacco and alcohol, and advanced maternal age. In developing countries, diagnosis is frequently delayed which leads to poorer outcomes. Method All patients with a singleton pregnancy, with either a diagnosis of congenital anomaly from 28 to 37 weeks of gestation on ultrasonography (USG) or the discovery of an anomalous fetus after deliverywere selected. Results Out of 572 patients delivered in one year, 29 (5.1%) delivered babies with congenital anomalies. Seventeen (59%) patients with a congenitally anomalous fetus were primigravida and 18 (62.1%) belonged to the age group >35 years. Twenty-three (79.3%) patients were diagnosed with congenital anomalies on USG at a gestational age of 28-37 weeks. The most common associations with congenital anomalies were advanced maternal age (37.9%), gestational diabetes mellitus (GDM) (20.6%), and lack of folic acid intake (10.3%). The most common types of congenital anomalies were central nervous system (CNS) anomalies (41.4%), musculoskeletal anomalies (20.6%), and gastrointestinal tract (GIT) anomalies (17.2%). Conclusion Neural tube defects are the most common and can be prevented by ensuring folate supplementation, especially during the first trimester. As part of family planning, new couples should be counseled regarding the risks of advanced maternal age. For diabetic mothers, emphasis should be placed onglycemic control and dietary restrictions.

Congenital Anomalies of the Kidney and Urinary Tract in Patients with Hirschsprung Disease.

To determine the frequency and types of congenital anomalies of the kidney and urinary tract (CAKUT) in patients with Hirschsprung disease. An observational cross-sectional study. Place and Duration of the Study: Department of Paediatric Surgery, National Institute of Child Health, Karachi, Pakistan, from June to December 2022. All patients with biopsy-proven Hirschsprung disease were included. Ultrasound was done to find out the anatomical and structural anomalies of the kidney and urinary tract. Functional assessment was done by renal function tests and MAG3 radioisotope scan where indicated. Fisher's exact test was applied to find out the association. A p ≤0.05 was taken as significant. Out of a total of 83, 15 (18.0%) patients had CAKUT. The mean age of the study population was 5.5 ± 2.3 years. It included 61 (73.5%) males and 22 (26.5%) females. No significant association was found between the type of Hirschsprung disease and CAKUT (p = 0.7). The gender distribution between CAKUT patients was also insignificant (p = 0.7). Renal hypoplasia was the most common anomaly found in six patients followed by hydronephrosis due to pelvi-ureteric junction obstruction in four children. All of these children were asymptomatic. Five male patients had undescended testis. Nearly a fifth of the children with Hirschsprung disease had CAKUT of whom renal dysplasia was the most common anomaly. There was no gender predilection and patients were asymptomatic regarding the urinary system. A routine ultrasound abdomen is a good screening investigation for identifying CAKUT. Hirschsprung disease, Kidney and urinary tract, Congenital diseases of the urinary tract, Congenital anomalies.

Congenital Anomalies of the Kidney and Urinary Tract in Patients with Hirschsprung Disease.

To determine the frequency and types of congenital anomalies of the kidney and urinary tract (CAKUT) in patients with Hirschsprung disease. An observational cross-sectional study. Place and Duration of the Study: Department of Paediatric Surgery, National Institute of Child Health, Karachi, Pakistan, from June to December 2022. All patients with biopsy-proven Hirschsprung disease were included. Ultrasound was done to find out the anatomical and structural anomalies of the kidney and urinary tract. Functional assessment was done by renal function tests and MAG3 radioisotope scan where indicated. Fisher's exact test was applied to find out the association. A p ≤0.05 was taken as significant. Out of a total of 83, 15 (18.0%) patients had CAKUT. The mean age of the study population was 5.5 ± 2.3 years. It included 61 (73.5%) males and 22 (26.5%) females. No significant association was found between the type of Hirschsprung disease and CAKUT (p = 0.7). The gender distribution between CAKUT patients was also insignificant (p = 0.7). Renal hypoplasia was the most common anomaly found in six patients followed by hydronephrosis due to pelvi-ureteric junction obstruction in four children. All of these children were asymptomatic. Five male patients had undescended testis. Nearly a fifth of the children with Hirschsprung disease had CAKUT of whom renal dysplasia was the most common anomaly. There was no gender predilection and patients were asymptomatic regarding the urinary system. A routine ultrasound abdomen is a good screening investigation for identifying CAKUT. Hirschsprung disease, Kidney and urinary tract, Congenital diseases of the urinary tract, Congenital anomalies.

Prevalence, characteristics and risk factors of birth defects in central China livebirths, 2015-2022.

This study analyzed the prevalence, epidemiological characteristics and risk factors of birth defects among livebirths in central China, aiming to provide evidences for the prevention of birth defects and government Decision-makings. Birth data from China's Hubei Province between 2015 and 2022 were collected, including basic information of the livebirths, the mothers and the fathers, as well as information about delivery and each prenatal examination. The livebirths prevalence of birth defects was calculated and the trends were mapped. The basic characteristics of birth defects were evaluated by the difference analysis between case and health groups. Univariate and multivariate Poisson regression was performed to examine the independent risk factors for birth defects. Among 43,568 livebirths, 166 livebirths were born with birth defects, resulted in a total prevalence rate of 3.81 per 1,000 livebirths, showing a remarkable uptrend from 0.41per 1,000 livebirths in 2015 to 9.23 per 1,000 livebirths in 2022. The peak of the prevalence was in January and February. Congenital malformation of the musculoskeletal system was the main type of birth defect in central China livebirths, followed by cleft lip and cleft palate. Overall, newborns with birth defect had significantly earlier delivery gestational age, poorer health and higher proportion of infants with low birth weight than healthy births. The gender of livebirths, excess weight at delivery (≥80 kg) of mothers, more than 2 times of gravidity or parity of mothers, and advanced paternal age (≥40 years) were independent risk factors for birth defects (or specific birth defects). The livebirths prevalence of birth defects shows increasing trend in central China, which deserves the attention of the government and would-be parents. Elevated paternal age, excess maternal weight, gravidity and parity should be considered when planning their families.

Factors related to the occurrence of fetal birth defects and the construction of a Nomogram model.

To explore the influencing factors of fetal birth defects (BD) and construct a nomogram model. A total of 341 newborns admitted to Meizhou people's hospital from September 2021 to September 2023 were randomly grouped into a modeling group (239 cases) and a validation group (102 cases). The modeling group fetuses were separated into BD and non-BD groups. Multivariate logistic regression analyzed risk factors for BD; R software constructed a nomogram model; Receiver operating characteristic (ROC) curve evaluated the model's discrimination for BD. The top 5 types of BD were congenital heart disease, polydactyly/syndactyly, cleft lip/palate, ear malformation, and foot malformation, with incidence rates of 23.81%, 20.63%, 12.70%, 11.11%, and 7.94%, respectively. BD incidence was 26.36% (63/239). Significant differences between BD and non-BD groups were found in maternal age, gestational age, history of adverse pregnancy/childbirth, gestational hypertension, adverse emotions during pregnancy, and folic acid intake duration (P<0.05). Logistic regression showed maternal age (OR: 4.125), gestational age (OR: 3.066), adverse pregnancy history (OR: 10.628), gestational hypertension (OR: 5.658), adverse emotions (OR: 5.467), and folic acid intake duration (OR: 4.586) were risk factors for BD (P<0.05). The modeling group's ROC AUC was 0.938, calibration curve slope close to 1, H-L test =8.342, P=0.692; external validation AUC was 0.961, calibration slope close to 1, H-L test =7.634, P=0.635. Identified risk factors include maternal age, gestational age, adverse pregnancy history, gestational hypertension, adverse emotions, and folic acid intake duration. The nomogram model shows good discrimination and consistency for evaluating neonatal BD risk.

Birth defects in a rural province in Papua New Guinea

BackgroundGlobally, birth defects are the fourth most common cause of neonatal mortality. They cause substantial morbidity, and often long-term disability. Despite this, the impact of birth defects on public health...

Spatiotemporal Trends of Birth Defects in North Carolina, 2003-2015.

Birth defects are a leading cause of infant mortality in the United States, but little is known about causes of many types of birth defects. Spatiotemporal disease mapping to identify high-prevalence areas, is a potential strategy to narrow the search for potential environmental and other causes that aggregate over space and time. We described the spatial and temporal trends of the prevalence of birth defects in North Carolina during 2003-2015, using data on live births obtained from the North Carolina Birth Defects Monitoring Program. By employing a Bayesian space-time Poisson model, we estimated spatial and temporal trends of non-chromosomal and chromosomal birth defects. During 2003-2015, 52,524 (3.3%) of 1,598,807 live births had at least one recorded birth defect. The prevalence of non-chromosomal birth defects decreased from 3.8% in 2003 to 2.9% in 2015. Spatial modeling suggested a large geographic variation in non-chromosomal birth defects at census-tract level, with the highest prevalence in southeastern North Carolina. The strong spatial heterogeneity revealed in this work allowed to identify geographic areas with higher prevalence of non-chromosomal birth defects in North Carolina. This variation will help inform future research focused on epidemiologic studies of birth defects to identify etiologic factors.

Abstract We088: Spatiotemporal analysis of cardiac progenitor cells reveals migratory characteristics during epithelial-mesenchymal transition

Introduction: Congenital heart defects (CHD) are one of the most common types of birth defects, with a rising prevalence in mild types. The most frequent CHDs include anomalies in the cardiac outflow tract (OFT), which mainly derives from multipotent cardiac progenitor cells termed second heart field (SHF). Hence, dysregulation of highly synchronized, chronological sequence of proliferation and differentiation of SHF cells could lead to severe CHDs. As the SHF contributes entirely to the OFT, mutations in the SHF-related genes lead to major arterial pole defects which account for one third of CHDs in newborn children. Investigating how these genes regulate cell-cell behavior and communication is of vital importance. Hypothesis and Methods: In this study, we employed a multidimensional approach to assess the hypothesis that the dynamic behavior of SHFs is regulated by key genes implicated in CHD pathogenesis. Leveraging single-cell RNA sequencing (RNA-seq) data obtained from experimentally dissected mouse OFT, we delineated distinct epithelial-to-mesenchymal transition states within SHF cell populations. Additionally, we developed a quantitative metric to assess SHF cell’s migratory level and integrated it with spatial transcriptomic analyses to map the developmental trajectory of SHFs. Results and Conclusion: Through spatiotemporal analysis, we identified a panel of key genes associated with SHF migration, shedding light on the molecular mechanisms underlying OFT development during early embryonic stages. Furthermore, we leveraged the data from The Pediatric Cardiac Genomics Consortium (PCGC) study (phs001194.v3.p2) which comprises a large cohort of CHD patients (13716 participants) and a proportion of 21.68% identified with OFT obstruction in its sub-study. In conclusion, using these datasets and quantitative metric being developed, we validated the SHF-derived genes in the PCGC participants and revealed specific expression patterns of these genes associated with OFT-specific CHDs. These results would benefit the understanding of the genetic regulation of SHF proliferation and differentiation, which is crucial for early detection and precise surgical intervention in CHD patients.

Abstract We087: The mitochondrial citrate carrier SLC25A1 is a regulator of metabolic reprogramming and morphogenesis in the developing heart

Background: Congenital heart defects (CHDs) are the most common type of birth defect, yet the etiology of most CHDs are unknown. A major genetic risk factor for CHD is 22q11.2 deletion syndrome (22q11.2DS), a multisystem chromosomal microdeletion disorder where ~75% of patients present with CHD. SLC25A1 is a gene found within the 22q11.2DS microdeletion region that encodes for the mitochondrial citrate carrier, an inner membrane transporter that regulates intracellular citrate compartmentalization. Through this role, SLC25A1 is thought to contribute to cytosolic acetyl-CoA availability, and processes like protein acetylation and the epigenetic regulation of gene expression. We have previously found that SLC25A1 is a central gene contributing to the neurodevelopmental presentation of 22q11.2DS and importantly, neuronal mitochondrial function. Because the heart, like the brain, is highly reliant on energy derived from mitochondria, and the developing heart must undergo metabolic maturation whereby metabolism is reprogrammed from primary reliance on glycolysis towards mitochondrial oxidative metabolism, we hypothesized that SLC25A1 plays a key role in the metabolic maturation that is required for proper cardiac development. Objective: Here, we studied the role of Slc25a1 in the developing heart to examine the link between mitochondria and cardiac morphogenesis. Methods and Results: By studying mice with the systemic knockout of SLC25A1, we discovered that Slc25a1 null embryos displayed impaired growth, cardiac malformations, mitochondrial ultrastructural defects and impaired mitochondrial oxygen consumption. Transcriptomics analyses of metabolism-related genes revealed that Slc25a1 deletion causes widespread alterations in metabolic gene expression. Further, metabolic modelling predicted that loss of SLC25A1 downregulates oxidative phosphorylation, while increasing reliance on glucose. Finally, we found that loss of SLC25A1 decreases cardiac H3K9 acetylation levels at promoter regions of dysregulated metabolic genes. Mechanistically, SLC25A1 may regulating mitochondrial function and metabolism through epigenetic control of gene expression to promote metabolic remodeling in the developing heart. Conclusions: Our work suggests that SLC25A1 as an an important mitochondrial regulator of gene expression in the developing heart. Importantly, it positions SLC25A1 as a novel mitochondrial regulator of ventricular morphogenesis as well as cardiac metabolic maturation.

Congenital anomalies in pregnancies with overt and pregestational type 2 diabetes: a gray portrayal from a cohort in Brazil

ObjectiveTo describe the frequency and types of congenital anomalies and associated risk factors in Brazilian women with type 2 diabetes.MethodsIn this retrospective cohort study between 2005 and 2021, we included all pregnant participants with type 2 diabetes from the two major public hospitals in southern Brazil. We collected data from the electronic hospital records. Congenital anomalies were classified by the 10th revised International Classification of Diseases, Q chapter, enhanced by the EUROCAT registry classification, and categorized by type and gravity. We used multiple Poisson regression with robust estimates to estimate risks.ResultsAmong 648 participants, we excluded 19, and 62 were lost to follow-up; therefore, we included 567 participants. Overt diabetes arose in 191 participants (33.7%, 95% CI 30.0% – 38.0%). Less than 20% of the participants supplemented folate. Congenital anomalies occurred in 78 neonates (13.8%, CI 11.0 − 16.9%), 73 babies (93.6%) presented major anomalies, and 20 (10.5%) cases occurred in participants with overt diabetes. Cardiac anomalies were the most frequent (43 isolated and 12 combined). Pre-eclampsia was associated with an increased risk in the analyses including all women (adjusted RR 1.87 (95% CI 1.23–2.85), p = 0.003), but not in analyses including only women with an HbA1c measured up to the 14th gestational age. HbA1c, either measured at any time in pregnancy (adjusted RR 1.21 (95% CI 1.10–1.33), p < 0.001) or up to the first 14 weeks (adjusted RR 1.22, 95% CI 1.10–1.35, p < 0.001) was the only sustained risk factor. Risk factors such as maternal age, obesity, diabetes diagnosis, or use of antidiabetic medications were not associated with congenital anomalies.ConclusionWe found a high frequency of congenital anomalies associated with poor maternal glycemic control and revealed an almost universal lack of preconception care. An urgent call to action is mandatory for the reversal of this gray scenario.

Gene Expression During C2C12 Differentiation

Congenital heart disease (CHD) is one of the most common types of birth defect and is very poorly understood. To comprehend this disease better, the normal genetic expression associated with myocyte differentiation must be mapped out. This gives a deeper understanding of how cardiomyocytes (cardiac muscle cells) divide and specialize, which can contribute to understanding the mechanisms of CHD better. The workflow of this specific project began with culturing C2C12 mouse muscle myoblast cells and harvesting them at six different time points: 50% confluency, 100% confluency, 24-hours postdifferentiation, 48-hour postdifferentiation, 72-hour postdifferentiation, and 96-hour postdifferentiation. The expression levels of MyoD1, Myogenin, MyoM2, MyoZ2, GATA4, TbX5, NKX2.5, Ki67, Tcap, and RBFox1 were then measured and compared with qPCR. It was expected that those gene markers associated with muscle differentiation and structure would increase in expression levels over time while those markers associated with cell proliferation would decrease in expression levels. The qPCR showed the expected induction of myogenic differentiation marker genes, with the following deviation: MyoD1 expression did not increase during differentiation, and cardiogenesis markers did not follow a clear expression pattern during differentiation. Future studies on human-induced pluripotent stem cells differentiation to cardiomyocytes are needed to understand the patterns of gene expression in cardiomyocytes compared to skeletal myocytes. The outcomes of these studies may contribute to a deeper understanding of heart development and abnormalities in patients with CHD, and may improve diagnosis and treatment methods.

Cranio-vertebral junction anomalies with Atlanto-axial instability: Management and complications- Our experience of 63 cases at a tertiary care center in India

IntroductionManagement of complex cranio-vertebral junction anomalies with atlanto-axial instability require extensive pre-operative work up with various intra-operative (and/orpreoperative)manouvres and bony fusion procedures and post-operative rehabilitation and support. This study focuses on various management strategies in terms of its outcome and complications. Materials and methodology:This clinical analytical study shares our experience of 63 cases of cvjunction anomalies with atlanto-axial instability operated at tertiary care center in india. 63 patientsoperated during the period spanning from June-2019 to November-2021 who had atlanto axial instability (AAD WITH/WITHOUT BI). Patients were assessed pre-operatively and post-operativelyup to 3 months objectively and subjectively in terms of outcome and post op radiology was also done. Results:Out of 63 atlanto-axial operated patients, 42 improved, 3 had stable disease and 12deteriorated clinically some of whom required also secondary procedures for it. Out of 63 ,8 patientshad died,4 of them were pediatric and 4 were adults. Various procedure related complicationsoccurred in 12 patients. Conclusion: Thus, with proper pre-operative diagnosis of type of congenital anomaly combined with appropriate surgical plan can give impacting results in these pathologies withminimal complications. Key words: cranio-vertebral junction anomalies, atlanto-axial instability, DCER, C1-C2 fusion

Prevalence and associated factors of congenital anomalies in Ethiopia: A systematic review and meta-analysis.

Congenital anomalies represent a significant contributor to infant mortality, morbidity, and enduring disability. With this in mind, the present investigation endeavour to ascertain the pooled prevalence of congenital anomalies and associated determinants among neonates in Ethiopia. PubMed, Google Scholar, CINAHAL, Hinari, and Global Health databases were systematically searched. Joanna Briggs Institute (JBI) assessment checklist was used to assess quality of included studies. Data were extracted from database and exported to stataMP-17 for analysis. Pooled prevalence was determined using DerSimonian-Laird random effects model. The degree of heterogeneity and Publication bias were assessed using I2 statistics and Eggers test, respectively. Study protocol was registered under PROSPERO ID CRD42021229140. A total of 18 studies with 519,327 participants were included in the study. Pooled prevalence of congenital anomalies in Ethiopia was 2% (95% CI: 0.02, 0.03%). Among affected newborns neural tube defect (48%) was the most common congenital anomaly in Ethiopia, followed by orofacial cleft (19%). Risk factors such as alcohol consumption (pooled OR: 2.28, 95% CI: 1.54, 3.38), lack of folic acid supplement (pooled OR: 2.83, 95% CI: 1.09-7.36), medication during pregnancy (pooled OR: 2.58, 95% CI: 1.03-6.47), khat (Catha edulis) chewing (pooled OR: 2.44, 95% CI: 1.61-3.71), exposure to pesticides (pooled OR: 4.45, 95% CI: 2.44-8.09) and maternal illness (pooled OR:1.79, 95% CI: 1.03, 3.10) had statistically significant association with congenital anomalies in Ethiopia. In this review, prevalence of congenital anomalies in Ethiopia was high with considerable regional variation. The most common type of congenital anomaly in Ethiopia was neural tube defects, followed by oro-facial cleft. Alcohol consumption, inadequate intake of folic acid, khat chewing, maternal diseases, exposure to pesticides, and use of medication during pregnancy were identified as potential contributors to congenital abnormalities in Ethiopia.

IJCM_359A: Pattern of Congenital Anomalies among newborn babies - A Hospital based study

Background: Congenital anomalies can be defined as structural or functional anomalies that occur during intrauterine life and can be identified prenatally. Some of the congenital anomalies may be life threatening, hence an immediate management is required. This study is to determine the pattern of congenital anomalies among newborn babies and factors associated with it. Methodology: It was a descriptive study carried out at KMC Hospital, Attavar on all the new born babies with congenital abnormalities born or admitted in KMC Attavar. Data extraction sheet had two sections including the maternal details, history of newborn related to type of congenital anomalies and condition of the baby at birth. Data was entered and analyzed by using statistical software Statistical Package for Social Sciences (SPSS) Version 11.5. Descriptive statistics like mean, proportions and standard deviation was used for expressing the results. Results: We found that 56.25% of the cases were of maternal age group &lt;30years. 3.16% were non-consanguinous marriages, 56.46% of mothers were primiparous &amp; 43.53% were multiparous. Only 18.40% had maternal co morbidities &amp; 5.84% had hazardous exposure. 67% of the study population were males and 33% were females. In cases where single system was involved, 66.85% were males and 33.15% were females. In cases with multiple malformations, 67.56% were males and 32.43% were females. In the cases where maternal age was &lt;30yrs, 22.85% of anomalies were in the cardiovascular system, and in ≥30yr, 29.63% were multiple malformations. Conclusion: Among the congenital anomalies affecting the newborns, the most affected single system is gastrointestinal tract followed by cardiovascular system and musculoskeletal system. Multiple malformations were found to be the highest. Congenital anomalies were found to be more in males than females. In maternal age group of less than 30yrs, highest number of anomalies were in the cardiovascular system and for more than/equal 30yrs, highest number was multiple malformations.

Incidence and Spectrum of Congenital Anomalies in Pediatric Populations of Southern Punjab, Pakistan

Background: Congenital anomalies (CAs) remain a significant concern for pediatric health worldwide, affecting millions of newborns. In Southern Punjab, Pakistan, a region characterized by its distinct socio-cultural dynamics, including a high prevalence of consanguineous marriages, the impact of these anomalies presents a unique public health challenge. This study aims to shed light on the incidence and spectrum of CAs within this context, exploring the genetic and environmental factors contributing to their prevalence.&#x0D; Objective: The primary objective of this study was to estimate the incidence and types of congenital anomalies among the pediatric population of Southern Punjab, with a particular focus on the relationship between consanguineous marriages and the prevalence of CAs.&#x0D; Methods: A cross-sectional study design was utilized, encompassing 406 pregnant women aged 20-42 from Southern Punjab, screened via ultrasound and genetic testing. The study emphasized the categorization of CAs across five main systems: digestive, central nervous, cardiovascular, ear-face-neck, and musculoskeletal. The inclusion of women with a history of cousin marriages provided a comparative analysis to understand the genetic impact on CA incidence.&#x0D; Results: Out of 406 newborns, a total of 16 (3.94%) were diagnosed with congenital anomalies. The distribution of CAs was as follows: digestive system (5 cases, 1.23%), central nervous system (3 cases, 0.74%), cardiovascular system (5 cases, 1.23%), anomalies of ear, face, and neck (3 cases, 0.74%), and musculoskeletal system (3 cases, 0.74%). Notably, the prevalence of CAs was higher in children born from cousin marriages (12 cases, 2.95%) compared to those from non-consanguineous unions (4 cases, 0.99%), with a statistically significant p-value of 0.05.&#x0D; Conclusion: The study underscores the heightened risk of congenital anomalies associated with consanguineous marriages in Southern Punjab, Pakistan. These findings advocate for enhanced genetic counseling and prenatal screening programs in regions with similar socio-cultural practices to mitigate the risks and impact of CAs.

Risk factors associated with congenital central nervous system abnormalities in the National Hospital of Zinder, Niger

IntroductionCongenital malformations of the central nervous system (CNS) are morphological abnormalities of the brain and spinal cord that occur during fetal development. They constitute the second most common congenital disability, after congenital cardiac defects. Many risk factors have been identified; however, these studies included various types of congenital abnormality. Furthermore, there is a lack of information on risk factors for congenital CNS malformation, and notably in the Zinder region of Niger. ObjectiveThis study aimed to identify the risk factors associated with congenital CNS malformations in the Zinder region. MethodsIn a case-control design, patients with congenital CNS malformation were enrolled between June 2022 and April 2023 in the Department of Neurosurgery of the National Hospital of Zinder. ResultsFamily history of malformation (aOR:3.31, 95% CI:1.25−8.78) and consanguine marriage (aOR:2.28, 95% CI:1.23−4.20) were significantly associated with congenital CNS malformation. In contrast, folic acid supplementation (aOR:0.34, 95% CI:0.13, 0.89), multiparity (aOR:0.34, 95% CI:0.13, 0.89), and grand multiparity (aOR, 0.47; 95% CI:0.23, 0.97) had a protective effect. ConclusionRisk factors such as family malformation history and consanguine marriage increased the risk of developing congenital malformations of the central nervous system. In contrast, folic acid supplementation in the index period and multiparity had a significant protective effect.

Hip dysplasia: pathogenesis, diagnosis, treatment, analysis of the activities of a nurse in caring for sick children

Hip dysplasia is a very common disease and the main type of congenital anomalies of the musculoskeletal system in young children. Timely detection and targeted treatment of the disease can improve the quality of life of patients and prevent complications that can lead to the development of disability. The article discusses the causes of the disease, pathogenesis, clinical picture, diagnosis and principles of treatment of hip dysplasia, and the tactics of a nurse working with this category of sick children. Modern principles of rehabilitation associated with treatment regimens depending on the severity of the pathology are considered, the characteristics and content of the functional conservative method of treatment are given. The place of physical rehabilitation methods is determined, the main methods and techniques are characterized, including new organizational solutions: complex impact and multidisciplinary approach. The role of close contact with parents, constructive interaction between doctors, nurses and rehabilitation specialists is noted.

Profile of various congenital anomalies in fetus detected during antenatal period among high risk mothers by Ultrasonography at Tertiary Care Centre, South Gujarat

Background: With the improvement of basic maternal and child health care services, the deaths due to malnutrition and infections are on a descending trend and due to westernization and lifestyle modifications, perinatal deaths due to anomalies are in ascending trend. Aim &amp; Objectives: The purpose of this study was to estimate the antenatal proportion of congenital anomalies, types, pattern of anomalies and factors associated with anomalies in Tertiary Care Centre, South Gujarat. Settings and Design: Cross-sectional study in Department of Fetal Medicine of New Civil Hospital, Surat. Methods and Material: Sample size was 435. First 10 consecutive high-risk ANC patients, who were referred to Fetal Medicine department from Obstetrics and Gynecology department per day were selected. Data was collected during September 2021 to February 2022. Statistical analysis used: Frequencies, proportions and tests of significance was applied for testing the association of socio-demographic variables, clinical variables etc on presence or absence of congenital anomalies. Results: Proportion of different types of congenital anomalies in high risk pregnant mother was 17.2%. There was significant association between presence of congenital anomalies with history of irregular menstruation (p value: 0.001, OR: 5.19, [CI: 1.76-15.27]) and inadequate amniotic fluid (p value: 0.00, OR: 14.5[CI: 7.23-29.06]). Among total detected anomalies in Ultrasonography scanning, most common anomalies were Cardio-vascular system anomalies (36.4%) and Central Nervous System anomalies (24%). Conclusions: Congenital anomalies were present in about 17 % of high risk antenatal mothers.

Prolonged Labor and Adverse Cardiac Outcomes in Pregnant Patients With Congenital Heart Disease

(Am J Obstet Gynecol. 2023;228(6):728.e1–728.e8) Congenital heart disease (CHD) is one of the most common types of birth defects and affects 8 to 9 per 1000 births. Many patients who have it are diagnosed in infancy, but some are not diagnosed until later in life. The number of patients with CHD who reach childbearing years has increased substantially. Pregnancy can pose difficult challenges, especially in labor and delivery. The physiologic changes that occur during delivery, including increased cardiac demand, rapid changes in intravascular volume, and blood loss, result in significant risk for patients with CHD. The European Registry of Pregnancy and Cardiac disease and the Cardiac Disease in Pregnancy 2 studies have demonstrated that the immediate postpartum period is the highest risk time for heart failure.