Types Of Congenital Malformations Research Articles

Maternal human papillomavirus infection and the risk of congenital malformations: A nationwide population-based cohort study.

Previous research has explored theories regarding the vertical transmission of human papillomavirus (HPV) infection and its association with adverse pregnancy and perinatal outcomes. However, the impact of maternal HPV infection on congenital anomalies (CAs) in offspring remains relatively understudied. We conducted a population-based cohort study linking the Taiwan Birth Registry, Taiwan Death Registry, and National Health Insurance Research Database, in which newborns born in Taiwan between 2009 and 2015 were included. We established a maternal HPV infection cohort comprising 37 807 newborns and matched them with a comparison group of 151 228 newborns at a 1:4 ratio based on index year, age, and sex. The study examined a composite outcome and subgroups of different types of congenital malformations. Differences in cumulative incidence of CAs were assessed using Kaplan-Meier curves and log-rank tests. Adjusted hazard ratios (aHRs) were estimated using Cox proportional hazard regressions. No significant association was found between HPV infection and the broad spectrum of CAs (aHR: 1.04, 95% confidence interval [CI]: 0.98-1.10; log-rank test p = 0.14). However, we observed a 19% increased risk of musculoskeletal CAs in the maternal HPV infection group (aHR: 1.19; 95% CI: 1.05-1.34) compared to those without maternal HPV exposure. Other factors, including the type of HPV (aHR: 0.65; 95% CI: 0.16-2.63), the timing of exposure (during or before pregnancy), and maternal age (aHR for <30 years: 1.02, 95% CI: 0.94-1.1; aHR for 30-39 years: 1.05, 95% CI: 0.99-1.11; aHR for ≥40 years: 0.88, 95% CI: 0.67-1.17), did not significantly affect the risk for any CA. In conclusion, gestation detection of HPV infection was associated with musculoskeletal CAs but not other major CAs. Prospective studies are warranted to elucidate the necessity of prenatal screening in populations at risk.

Hymenal atresia - a rare congenital anomaly with the risk of late diagnosis.

Comprehensive analysis of causes, clinical signs, dia-gnostic process, differential dia-gnosis and therapy of hymenal atresia. Literature search using the Web of Science, Google Scholar and PubMed databases with keywords and analysis of articles published in high impact and reviewed journals. Hymenal atresia is a congenital malformation of a womans genitals, which is manifested by complete obstruction of the vaginal introitus by a closed hymen. It should be dia-gnosed in the neonatal period, but clinically it usually manifests itself only during puberty as a result of menstrual blood retention (cryptomenorrhea) with the cyclic abdominal pain at monthly intervals. The therapy is based on optimally timed surgical creation of communication in the hymen (hymenotomy, hymenectomy) enabling free evacuation of menstrual contents. The aim of this simple treatment method is immediate subjective relief from pain and a permanent solution to this congenital anomaly. Knowledge of all types of congenital malformations of the female genitalia is a basic condition for an early and effective dia-gnostic process in adolescent girls with abdominal pain. The girl who has not yet menstruated and has cyclic lower abdominal pain and a tumor behind the pubic symphysis should be examined by a specialist in pediatric and adolescent gynecology who will confirm hymenal atresia according to a bluish and closed hymen, and suggest prompt and effective therapy.

Онтологія уроджених вад хребта

Deepening and generalization of existing knowledge about rare diseases and congenital anomalies are becoming relevant in modern medical practice. Understanding the features of prenatal morphogenesis of the spine and spinal cord, as well as postnatal changes of the cartilaginous spine, is necessary to interpret the severity of pathologies and predict their complications. The purpose of the study was to analyze and summarize the information of sources of scientific literature on the congenital spine development defects, their classification and interpretation in alphabetical order. This study is a continuation of our previous studies on the congenital development defects of the human skeleton. The embryological development of vertebrae is complex, so errors in the laying and formation of their basic structures can lead to various types of congenital malformations. Disorders of the spine are associated with changes in the number of vertebrae (occipitalization, thoracolization, lumbalization, sacralization); change in the shape of the vertebrae: vertebrae or wedge-shaped vertebrae (with developmental delay in the anterior parts), spondylolysis (with delayed development of the vertebrae in the posterior parts); impaired development of arches and vertebral bodies. Congenital malformations of the spine can be single, multiple, or mixed. Spinal abnormalities are not always noticeable at birth; they may manifest during growth in the form of deformities or neurological disorders. Common spinal deformities are scoliosis, kyphosis, lordoscoliosis or kyphoscoliosis. In addition to congenital malformations of the spine, a number of concomitant abnormalities should be considered, such as thoracic, intravertebral, cardiac, and urogenital. The severity of congenital malformations of the spine is divided into moderate (require serious treatment, but not life-threatening); severe (to save the child's life, it is necessary to urgently carry out treatment); lethal (incompatible with life anomalies, the child dies during childbirth or in the womb). Conclusion. Treatment of congenital malformations of the spine is long and comprehensive, requires a clear plan and the involvement of specialized specialists, including pediatric orthopedists and neurosurgeons. Based on the analysis of literature sources, an attempt was made to summarize the existing information on congenital malformations of the spine and their classification and interpretation according to the alphabet was proposed

The Dermal Sinus: About 29 Cases and Review of the Literature

The term spina includes several types of congenital malformations including closed spinal dysraphisms, among these 10% are dermal sinuses.Our series includes 29 patients, the majority of which were asymptomatic, but these can present with different clinical pictures including neurological and / or infectious signs indicating a neglected dermal sinus and which therefore requires urgent treatment in the environment. Neurosurgical.MRI confirmed the diagnosis showing the dermal sinus tract communicating from the surface of the skin to the intra-dural space.Once the diagnosis has been made, surgical treatment becomes imperative and urgent because, despite the benignity of the lesion, the majority of which are located in the lumbar region, can lead to formidable neurological sequelae compromising the functional prognosis or even the vital prognosis in some cases.All of our patients were operated on and we obtained 90% good results, however we deplore one case of aggravation and one death.

Contribution Factors on Congenital Malformations in Neonates in Iran

Background: Congenital malformations are one of the most important and common types of anomalies in infants, and they are considered as the leading causes of disability and mortality in children. These malformations impose enormous costs on families and organizations involved in the treatment, maintenance, and education of patients. Objectives: This study aimed to investigate the risk factors affecting the incidence of congenital anomalies in infants born in Iran. Methods: In this retrospective descriptive-analytical study, we registered various information of all newborns examined and their mothers, including gender, family relationship of parents, type of delivery, types of congenital malformations, anomalies of the hands and feet, and anomalies of the nervous and reproductive systems in the maternity wards of hospitals in Iran. Data were gathered using a checklist. The relationships between different factors were assessed by chi-square test, and the factors influencing congenital malformations were investigated by logistic regression using SPSS-26 software. The significance level of all tests was 0.05. Results: According to the results, 7.5% of newborns had congenital malformations. Eclampsia and diabetes mellitus increased the risk of congenital malformations by 15 and 11%, respectively. The risk of congenital malformations in rural areas was 12% higher than in urban areas. Factors such as consanguineous marriages, history of abortion, and gender also affected the risk of congenital malformations. Conclusions: Necessary measures and plans in the field of premarital counseling, regular pre-pregnancy and post-pregnancy tests and controls, especially in rural and deprived areas, are essential and effective in reducing the incidence of congenital malformations.

Mapping and Epidemiological analysis of types of Congenital Malformations in a Teaching Hospital

Introduction: The World Health Organization (WHO) defines as congenital malformation, all anomalies triggered by the alteration of normal development resulting in a deficient formation from the initial stage of the fetus still in intrauterine, whose origin occurs before birth, having causes genetic, environmental or unknown, whether structural or functional, these disorders can be seen in prenatal care, childbirth, or even manifested in childhood. Background: To map and analyze epidemiological data on congenital malformations in children at a Teaching Hospital in the interior of the State of São Paulo. Materials and Methods: Data were collected from children with congenital malformations between the years 2010 and 2017, searched through the International Disease Code (ICD 10) with codes from Q00 to Q89. During the analysis of the medical records, 30,309 male and female children with congenital malformations were identified, aged between 1 day and 12 years. Results: 30,309 male and female children with congenital malformations were identified (16,956 male or 54.75% and 13,713 female or 45.25%) aged between 1 day and 12 years (19,587 from 0 to 4 years or 64.63 %; 5,780 from 5 to 8 years or 19.07% and 4,942 from 9 to 12 years or 16.30%). The main types of congenital malformations were found: cardiac and circulatory or 42.32%; spinal cord or 12.34%; congenital clubfoot or 11.07%; male and female genitals and urinary tracts or 8.97% which add up to 74.70%. Conclusion: Congenital malformations are rare anomalies and this study concluded that they are mostly associated with male gender, early age and with a predominance of cardiac and circulatory alterations.

Risk Factors for Congenital Malformations among Population in the Agadir Region at Morocco

A prospective case-control study at the regional level was conducted in the pediatrics and neonatology department of Hassan II hospital in Agadir in Morocco from April 2016 to April 2018. In this study, we aimed to study congenital anomalies in the population of the study region regarding the frequency and highlight the associated risk factors. The types of congenital malformations have been classified according to the International Classification of Diseases (ICD-10). Univariate analyzes were performed to identify the variables associated with the etiology of the malformations. Multiple logistic regression was used to characterize the associations between the MC, and the determining explanatory variables are taken into account simultaneously. The results found that congenital disabilities were significantly associated with the consanguinity level of the child, the prematurity of childbirth, the family history of CMs, the Body Mass index. (BMI) of the mother and the presence of a significant trauma during pregnancy. Our results have made it possible to highlight the existence of an association between a certain number of risk factors and the occurrence of congenital malformations

DETERMINATION OF THE QUALITY OF LIFE OF PATIENTS WITH CONGENITAL CLEFT OF THE UPPER LIP AND PALATE BEFORE AND AFTER THEIR ORTHOPEDIC REHABILITATION

Abstract. Congenital malformations remain one of the most pressing medical and social problems, and their frequency is an important characteristic of the population health status. Unfortunately, the tendency to their decrease is not observed in recent years, on average from 450 to 500 newborns per year. In this regard, it is important to study different aspects of the life quality of patients of different ages and with different types of congenital malformations of the upper lip and palate.&#x0D; The positive dynamics of changes in the life quality can be evidenced by the survey data of these patients, which must be conducted after each stage of their rehabilitation with the use of special validated questionnaires.&#x0D; Objective. The aim of the study was to assess the life quality of patients with congenital malformations of the upper lip and palate before and after the final stage of orthopedic treatment with different types of aesthetic designs of dentures.&#x0D; Material and methods. An investigation of the life quality related to the oral health was proposed using data of 37 patients aged 17 to 36 years, including 26 men and 11 women with congenital malformations of the upper lip and palate, using the OHIP-14 (Oral health impact profile) questionnaire. Non-removable structures are made for 27 patients, combined (non-removable + removable) - for 10 patients. The questionnaire was conducted before treatment and one month after their orthopaedic its completion.&#x0D; The analysis was conducted on individual questions, which were grouped into separate blocks: questions related to problems with eating, questions related to communication problems, questions related to problems in everyday life.&#x0D; Research results. There was a significant improvement in the life quality of patients with congenital malformations of the upper lip and palate after completion of their orthopaedic rehabilitation as separate blocks of questions (Block I 12,703 ± 0,915 before, against 1,784 ± 0,165 after orthopaedic treatment; Block II 13,378 ± 0,672 before, against 1,405 ± 0,175 after orthopaedic treatment; Block III 9,919 ± 0,736 before, against 0,676 ± 0,155 after orthopaedic treatment), confirmed by statistical processing of the material (p &lt;0,001) as well as the total number of points in the questionnaires (95,142 ± 1,405 before, against 10,214 ± 1,209 after orthopaedic treatment; p &lt;0,001).&#x0D; It should be considered that the life quality of patients with congenital malformations of the upper lip and palate, as well as other dental patients is a non-permanent category. It usually changes with age, as well as a result of treatment and prevention measures, so it must always be assessed in the dynamics. As a rule, successful treatment improves the life quality.&#x0D; Inadequate aesthetic condition of the oral cavity, which is formed after a comprehensive treatment, along with the functions of chewing and speech, most significantly affects the life quality.&#x0D; Thus, a study of the life quality associated with oral health of patients in this category suggests that adequate orthopaedic rehabilitation can significantly improve their life quality. In addition, the presence of either a fixed or a combined prosthesis, including in the area of the split (mouthpiece) aesthetically raises the upper lip and allows you to perform additional plastic surgery on it if necessary.&#x0D; Conclusion. The life quality of patients with congenital malformations of the upper lip and palate associated with oral health is usually a temporary category and tends to change depending on the type of split, time and method of rehabilitation, especially orthopedic treatment. Adequate and high-quality prosthetics of defects and deformations of the teeth rows can significantly improve both the subjective assessment of the life quality and the objective improvement of the functional state of the dental-jaw system, as evidenced by these objective research methods.

Major Factors Associated with Congenital Malformations in the Agadir Region of Morocco

Introduction: Congenital malformations are a global health problem around the world. MCs is one of the main causes of death and disability of newborns worldwide, but the majority of its risk factors are still poorly understood.&#x0D; Objective: The aim of this study is to determine the main causes that are related to the incidence of congenital malformations (CMs) in the region of Agadir in Morocco.&#x0D; Material and Methods: A prospective cases-control study at regional level was conducted in the pediatrics and neonatology department of Hassan II hospital in Agadir from April 2016 to April 2018. Data on child and maternal variables were recorded for 3701 newborns. The types of congenital malformations have been classified according to the codes of the International Classification of Diseases. Univariate analyzes were performed to identify the variables associated with the etiology of the malformations. Multiple logistic regression was used to characterize the associations between the MC and the determining explanatory variables taken into account simultaneously.&#x0D; Results: The results of these studies showed that there is a significant association between the incidence of the Congenital anomalies and the level of the consanguinity of the child, the prematurity of childbirth, the family history of CMs, the body mass index of the mother and the presence of major trauma during pregnancy.&#x0D; Conclusion: our results have made it possible to highlight the existence of an association between a certain number of risk factors and the occurrence of congenital malformations. Additional studies are needed to confirm and clarify the role of these risk factors.

Comparative analysis of the prevalence of congenital malformations of the brain in children of the radioactively contaminated territories of the Bryansk region after the Chernobyl disaster (1999-2014)

Purpose of the study. Based on the official statistics for 1999-2014, we carried out a comparative analysis of the incidence of congenital brain malformations in children resided in the radiation-contaminated areas of the Bryansk region after the Chernobyl disaster with different densities of Cesium-137 and Strontium-90. Material and Methods. Student’s t-test, Pearson chi-square test, Pearson correlation test, linear regression. Results. As a result of the study, no statistically significant excess in the frequency of anencephaly, hydrocephalus and encephalocele in children in more radiation-contaminated south-western territories (SWT) was found compared to the average regional data. However, in the SWT, the prevalence of microcephaly is statistically significant (p&lt;0,05) above the average regional values (5.8 times). While the maximum values are recorded in the most radioactively polluted areas of the region when high statistically significant correlations are detected with the density of radioactive contamination with Cesium-137 (r=0.69; p=0.040) and Strontium 90 (r=0.70; p=0.037), while there are no significant dependencies for other brain defects of the brain. A statistically significant decrease in the long-term trend in the prevalence of microcephaly throughout the region without SWT in the period 1999-2014, and an increase in the radiation-contaminated SWT, was found. Conclusions. The results obtained presumably indicate to the influence of the radiation factor on the increased incidence of microcephaly in SWT relative to the average regional values without SWT for a sixteen-year period (1999-2014). The further studies are needed to analyze the incidence of various types of congenital malformations in order to determine a strategy for preventing birth of children with congenital anomalies.

Comparative analysis of the prevalence of congenital malformations of the brain in children of the radioactively contaminated territories of the Bryansk region after the Chernobyl disaster (1999-2014)

Purpose of the study. Based on the official statistics for 1999-2014, we carried out a comparative analysis of the incidence of congenital brain malformations in children resided in the radiation-contaminated areas of the Bryansk region after the Chernobyl disaster with different densities of Cesium-137 and Strontium-90. Material and Methods. Student’s t-test, Pearson chi-square test, Pearson correlation test, linear regression. Results. As a result of the study, no statistically significant excess in the frequency of anencephaly, hydrocephalus and encephalocele in children in more radiation-contaminated south-western territories (SWT) was found compared to the average regional data. However, in the SWT, the prevalence of microcephaly is statistically significant (p&lt;0,05) above the average regional values (5.8 times). While the maximum values are recorded in the most radioactively polluted areas of the region when high statistically significant correlations are detected with the density of radioactive contamination with Cesium-137 (r=0.69; p=0.040) and Strontium 90 (r=0.70; p=0.037), while there are no significant dependencies for other brain defects of the brain. A statistically significant decrease in the long-term trend in the prevalence of microcephaly throughout the region without SWT in the period 1999-2014, and an increase in the radiation-contaminated SWT, was found. Conclusions. The results obtained presumably indicate to the influence of the radiation factor on the increased incidence of microcephaly in SWT relative to the average regional values without SWT for a sixteen-year period (1999-2014). The further studies are needed to analyze the incidence of various types of congenital malformations in order to determine a strategy for preventing birth of children with congenital anomalies.

Airway management for neonates requiring ex utero intrapartum treatment (EXIT).

In utero congenital malformations in the fetus can occasionally lead to an obstructed airway at birth accompanied by hypoxic injury or peripartum demise, without intervention. Ex utero intrapartum treatment (EXIT) may help reduce morbidity and mortality associated with challenging airways by providing extra time on uteroplacental circulation to secure the airway. Meticulous preparation and planning are crucial for this procedure. Many different types of congenital malformations can result in a difficult airway, but there is no correlation between specific malformations and a required type of airway intervention. Based on our experience and literature review, an airway process flow diagram has been created to help assist teams in decision-making for airway intervention in a neonate during the EXIT procedure. The management of the airway in this scenario involves additional unique considerations that accompany handling a partially delivered newborn in the uterine environment. Extensive preparation and team rehearsal are essential to the success of this procedure.

Modifiable risk factors of congenital malformations in bale zone hospitals, Southeast Ethiopia: an unmatched case-control study

BackgroundCongenital malformations are structural, functional, and metabolic defects that develop during the organogenesis period and present at birth or later in life. There has been little research on congenital malformations in Ethiopia, knowledge on the incidence of birth defects at birth is unknown and the etiologies of the anomalies are limited. This study, therefore, aimed to assess the modifiable risks of congenital anomalies among women in Bale zone hospitals, Ethiopia.MethodsAn unmatched case-control study was conducted from February 2018 to January 2019 in the Bale zone; namely Goba referral hospital, Robe, Ginnir and Dolomena hospitals. A total of 409 women were selected. Mothers who gave birth with any type of congenital malformation were assigned as cases and those who gave live births without any congenital abnormalities were assigned as controls. Controls were selected by the lottery method from the labor ward. For each case, two consecutive controls were included. Data were entered into Epi-data 3.1 and exported into Statistical Package for the Social Sciences (SPSS) version 21 for analysis. Logistic regression was conducted to analyze the data.ResultsAlarmingly, women who had been exposed to pesticides during the current pregnancy were two times more prone to give congenital malformed infants than their counterparts (AOR = 3.19; 95% CI = 1.31, 10.96). Additionally, those women who chewed khat during the periconceptional period were two times more likely to have congenital malformed infants as compared to women who did not engage in this activity (AOR = 2.40; 95% CI = 1.11, 5.19).ConclusionsUrgent attention needs to be given by public health professionals and services to khat chewing and maternal exposure to pesticides during pregnancy to reduce the risk of congenital malformations.

Advances in managing of congenital heart disease

Congenital heart disease (CHD) is the most common type of congenital malformation, representing a major public health problem affecting the health of Chinese children.Great progress has been made in many aspects in the treatment of CHD in China.The vast majorities of children with CHD have been treated and they have survived for a long time, but cardiac dysfunction and pulmonary hypertension are still common complications of it before or after surgery.In this paper, the advances in drug treatment of CHD in children in recent years were mainly discussed, focused on the evaluation, treatment and management of CHD with heart failure and pulmonary hypertension in order to further improve the pediatrician′s therapeutic level of managing common complications of CHD. Key words: Congenital heart disease; Child; Treatment

Clinical observation of severe laryngomalacia an infant

Relevance. Disorders of the larynx are a poorly studied section of pediatric otorhinolaryngology. In recent years, the incidence of congenital malformations of the larynx increases, and laryngomalacia is the most common. Diagnosis of this disease is difficult in the conditions of outpatient department without necessary equipment. However, each doctor should understand the importance of diagnosis of laryngomalacia, because this disease can get a severe form with a potential injury to the life and health of the child, especially during the catarrhal disease.&#x0D; Objectives: development of diagnostic algorithm and the choice of optimal treatment strategy, intended to restoring of laryngeal functions.&#x0D; Materials and methods. Your attention is the case of severe clinical course laringomalacia an infant and its surgical correction in the clinic of Otorhinolaryngology, St. Petersburg State Pediatric Medical University. The child was observed by the standard method: flexible laryngoscopy, x-ray examination of the neck in the lateral view, x-ray examination of the chest, laboratory blood tests.&#x0D; Results. This article demonstrates the diagnostic algorithm and the choice of optimal treatment strategy, which avoids the imposition of tracheostomy and rehabilitation the child in infancy. A multidisciplinary approach to the treatment of children with laringomalacia is validated.&#x0D; Conclusions. This clinical case is a striking example of the need for early diagnosis of the type of congenital malformation of the larynx in newborns with congenital stridor and other signs of dysfunction of the larynx.

Which type of congenital malformations is significantly increased in singleton pregnancies following after in vitro fertilization/intracytoplasmic sperm injection: a systematic review and meta-analysis.

It is inconclusive nowadays for which type of congenital malformations(CMs) is increased in singleton pregnancies following after in vitro fertilization(IVF)/intracytoplasmic sperm injection(ICSI) compared with those after spontaneous conception; furthermore, a complete overview is missing. We conducted a meta-analysis of cohort studies to assess the risk of specific CMs associated with IVF/ICSI singleton pregnancies. Unrestricted searches were conducted, with an end date parameter of 1 June 2017, of PubMed, Embase, Google Scholar, Cochrane Libraries, and Chinese databases. Either a fixed- or a random-effects model was used to calculate the overall combined risk estimates. Subgroup and sensitivity analyses were performed to explore potential heterogeneity moderators when significant heterogeneity was observed. Sixteen cohort studies with a total of 129,648 IVF/ICSI and 5,491,949 spontaneously conceived singleton births fulfilled the inclusion criteria. The IVF/ICSI singleton pregnancies had a significantly increased risk of cleft lip and/or palate (OR = 1.34 [95% CI: 1.07–1.69]; I 2 = 0%), eye, ear, face and neck (odd ratios [OR] = 1.20 [95% CI: 1.04–1.39]; I 2 = 15%), chromosomal (OR = 1.23 [95% CI: 1.07–1.40]; I 2 = 32%), respiratory (OR = 1.28 [95% CI: 1.01–1.64]; I 2 = 37%), digestive (OR = 1.46 [95% CI: 1.29–1.65]; I 2 = 0%), musculoskeletal (OR = 1.47 [95% CI: 1.25–1.72]; I 2 = 64%), urogenital (OR = 1.43 [95% CI: 1.18–1.72]; I 2 = 62%), and circulatory (OR = 1.39 [95% CI: 1.23–1.58]; I 2 = 46%) system malformations. Relevant heterogeneity moderators have been identified by subgroup analysis. Sensitivity analysis yielded consistent results. No evidence of publication bias was observed. In conclusion, the IVF/ICSI singleton pregnancies are associated with higher risks for most specific CMs. Clinicians should provide appropriate information to counseling IVF/ICSI patients.

Características clínicas y enfoque terapéutico de pacientes con Malformaciones Anorrectales en dos Hospitales Sampedranos

Antecedentes: Las malformaciones anorrectales (MAR) se componen de una amplia gama de anormalidades que se asocian con varias patologías. Afectan tanto al sexo masculino como femenino, en algunos casos incluyen al aparato urinario y genital. Objetivo: Describir las características clínicas y el enfoque terapéutico de pacientes con Malformaciones Anorrectales en dos Hospitales de San Pedro Sula, Honduras, durante los años 2012 al 2016. Pacientes y Métodos: Estudio cuantitativo, descriptivo, transversal, realizado en pacientes con malformación anorrectal del Hospital Nacional Dr. Mario Catarino Rivas y el Hospital de Niños Quemados y Cirugía Pediátrica Ruth Paz. La muestra fueron 94 pacientes, la información se obtuvo del expediente clínico y se procesó en el software estadístico IBM SPSS 22. Resultados: En cuanto al sexo, 53.2% (n=50) eran mujeres y 46.8% (n=44) hombres, 30.9% (n=29) tenían un año de edad, 51.1% (n=48) provenían del departamento de Cortés. En los hombres, se encontró fístula perineal en 30.2% (n=14) pacientes y en las mujeres se encontró fístula rectovestibular en 37.3% (n=19), se encontró asociación a otro tipo de malformaciones congénitas en 29% (n=27) de los pacientes. El tratamiento consistió en colostomía protectora seguido de Anorrectoplastía sagital posterior tipo Peña y por último el programa de dilataciones anorrectalesa 59.6% (n=56) y 85.3% no presentó complicaciones quirúrgicas. Conclusiones: Las malformaciones anorrectales en este estudio afectaron más a las mujeres que a los hombres, la edad que predominó fueron los pacientes de 1 año, procedentes en su mayoría del departamento de Cortés, específicamente de San Pedro Sula.Palabras clave Ano imperforado, Cloaca, Fístula, Colostomía

A Study on Incidence of Various Systemic Congenital Malformations at Birth in a Tertiary Care Hospital of North Western Rajasthan

ABSTRACT Aims To study the overall incidence, proportion, and type of congenital malformations in newborns and immediate outcome of anomalous neonates. Materials and methods The present study was an observational study. It was carried out between January 2012 to July 2013 among patients admitted to the Department of Gynecology and Obstetrics, PBM Hospital, Bikaner. Results We found that the maximum number of mothers was in the age group of 21 to 25 years (44.9%). Central nervous system (CNS) was the most common anomaly (53.3%), followed by gastrointestinal (GIT) anomaly (13.2%). All three anomalies of respiratory system were diaphragmatic hernia. There were totally 35.7% mothers who had consanguinity. Accuracy of ultrasonography was 71.4%. Out of 167 deliveries, 85 babies were live birth, 79 were still birth, and 3 abortions, in that 92 (55.1%) cases were males while 71 (42.5%) babies were females, and 4 (2.4%) ambiguous genitalia. Maximum number of babies (40.1%) had their birth weight between1.5 and 2.50 kg, while 30.6% babies had their birth weight &lt; 1.5 kg, and 29.3% had their birth weight &gt; 2.5 kg. Conclusion The overall incidence of congenital malformation in our study was 1.23%. The most common anomaly was of CNS (53.3%), followed by GIT (13.2%); multiple system (10.2%); musculoskeletal (9%); urogenital (4.8%); respiratory (4.8%); and central venous system (1.25%). Consanguinity (35.3%) was a common associated factor in this study. Clinical significance These patients need good counseling, balanced diet with folic acid supplementation, treatment of precipitating factors, regular follow-up in subsequent pregnancies, early screening for congenital malformations, and early termination if an anomaly is present. How to cite this article Verma SV, Sehra RN. A Study on Incidence of Various Systemic Congenital Malformations at Birth in a Tertiary Care Hospital of North Western Rajasthan. J South Asian Feder Obst Gynae 2016;8(4):309-313.

Impact of pulse oximetry screening on the detection of duct dependent Congenital Heart Diseases (CHD)

Background Cardio vascular malformations are the commonest type of congenital malformations, but most are not detected by routine neonatal examination. Approximately 1-1.8 babies per 1000 live births have a duct dependent circulation, with a persistent ductus arteriosus being necessary for survival. These babies are at particular risk due to the trend towards early discharge from postnatal wards. Critical congenital heart defect (CCHD) is life threatening and requires intervention in infancy. However, CCHD is not always detected prenatally or upon examination in the post natal wards. As a result, some infants with CCHD are discharged from the postnatal wards to home, where they quickly decompensate. Methods Prospective study was done over ten weeks duration in the postnatal wards in Teaching Hospital Peradeniya. The preductal and postductal oxygen saturation (SpO2) of 1450 clinically healthy term newborns was measured by using pulse oximeter before they were discharged from the wards by a medical officer. Results Out of 1450 babies, the screening was positive in seven babies. The 2D Echocardiogram was done by a Consultant Paediatric Cardiologist. All seven of them confirmed to be suffered from a CHD. Among them, there was one Critical CHD which needed immediate surgical intervention and six other CHDs where four of them needed medical management for Persistent Pulmonary Hypertension as well. The sensitivity and the specificity of this screening test was 100%. Conclusion As the using of pulse oximetry is a low cost, painless and non-invasive procedure which can be done within minutes it is an effective method that can be used in our set up to screen duct dependent CHDs.

Sinus dermique : une urgence neurochirurgicale

Spinal dysraphisms include various types of congenital malformations. About 10% are dermal sinuses, i.e., a connection between the skin elements and intradural space through an open tract. The major complication of this malformation is a central nervous system infection that occurs most frequently before the age of 5 years. We report the case of a lumbosacral skin defect initially described as a coccygeal pit, which happened to be a dermal sinus with a tethered cord after ultrasound imaging in a newborn infant. No indication for surgery was recognized. Later, the infant experienced cerebral empyema and spinal cord edema when he was 5 months old, while a second infection, with a medullar abscess, occurred 7 months later. Both infections began with high fever and were complicated by neurologic deficits. An emergency surgery was performed during the second myelitis. The operative findings confirmed a dermal sinus and a tethered cord. Moreover, they found a dermoid cyst next to the tract. After 2 years of recovery, the child has neurologic deficits including lower limb paraplegia with neurological bladder and bowel. This observation recalls the importance of the differential diagnosis between a coccygeal pit and a dermal sinus, the latter being associated with a dermoid cyst in 50% of cases. Serious neurologic consequences due to the possible infectious complications can occur when a dermal sinus is neglected. A preventive operative excision of both the dermal sinus and a possible cyst is a surgical emergency for spinal dysraphism.