جستجوی مقالات مرتبط با کلیدواژه "congenital anomalies" در نشریات گروه "پزشکی"

 Annually, 3-8 million infants are born with congenital anomalies worldwide, ranging from 3% to 7% of births in different countries. This study aimed to investigate the nationwide epidemiological features of birth defects in Iran.

 This cross-sectional study was conducted in six major regions across Iran. The data sources were the maternity facilities affiliated with regional universities of medical sciences. All children were examined by obstetricians, pediatricians, or midwives at birth, and newborns were followed until discharge from the facility for health status, maturity, and congenital defects.

 A total of 138,643 births were registered in the maternity facilities across the study regions. Among these newborns, 3,458 cases were diagnosed with congenital anomalies, representing an overall prevalence rate of 249.4 per 10000 births (95% CI: 241.2-257.8). Genital organ anomalies exhibited the highest rates of defects in the country with 92.7 per 10000 births (95% CI: 86.4-98.9), followed by limb anomalies at 83.3 per 10000 births (95% CI: 77.4-89.3). The prevalence of respiratory system, chromosomal, and urinary tract anomalies was less than 10 per 10000 births.

 Until a national registry for congenital anomalies is established, this study provides essential data on the magnitude of the health problems caused by congenital anomalies in Iran. The findings would be vital for planning and evaluating antenatal screening for birth defects, particularly for high-risk groups and regions in the country.

Maternal factors like age, existing medical conditions, and exposure to medications/substances during pregnancy are crucial in the development of congenital anomalies. This study aims to investigate maternal risk factors associated with congenital anomalies in newborns in Yazd from 2018 to 2021. This particular research entails a cross-sectional descriptive analysis where the data concerning all live births and their respective mothers from the years 2018 to 2021 in the hospitals situated in Yazd were culled from the database of the National Mother and Newborn Health Registration System affiliated with Shahid Sadoughi University of Medical Sciences. Over four years, approximately 122,098 mothers' information was recorded in the mother's information registration system. The outcomes about social factors indicated that 1.3% of mothers with limited educational background and 0.62% of educated mothers had newborns with abnormal conditions. The heightened occurrence of newborns with congenital anomalies among mothers with lower educational attainment in comparison to their educated counterparts was deemed statistically significant (P < 0.001). Moreover, mothers under the age of 19 exhibited a 1.2% frequency of abnormalities, a rate significantly surpassing that of other age brackets. The discernment that very young mothers and those with limited education exhibit a higher frequency of abnormalities underscores the necessity for enhanced medical attention and awareness within these specific demographic segments. Nevertheless, further comprehensive inquiries regarding risk factors among mothers and high-risk cohorts are imperative.

The urinary tract is a site for common anomalies. Ureteropelvic junction obstruction and double collecting system are among the most common anomalies in the body, but gathering all of these anomalies reported in our patient and being unilateral may be a rare entity. Hereby, we report a case with such a rare condition.

The patient is a 19-year-old army male who presented with left lower quadrant abdominal pain after blunt abdominal trauma, accompanied by gross hematuria.

Ultrasonography suggested an ectopic pelvic left kidney with hydronephrosis and ureteropelvic junction obstruction with distal ureteral dilatation. Exploration was done through a Gibson’s retroperitoneal incision, and pyeloplasty accompanied by ureteroneocystostomy was carried out.

The collection of unilateral renal ectopia, double collecting system, lower moiety ureteropelvic junction obstruction, and finally ending to a common ureter with ureterovesical junction obstruction, seems to be a rare condition, but we found all of these in a young male.

Congenital hypothyroidism (CH) is one of the most prevalent endocrine disorders in children. According to the literature, there is a high prevalence of other anomalies and syndromes in infants diagnosed with CH.

This study finds the prevalence of concurrent anomalies and the prevalence of each one.

This was a systematic review study based on the preferred reporting items for systematic reviews and meta-analysis (PRISMA). The research question was the comparison of children with and without CH in terms of having extra-thyroidal congenital anomalies. A systematic literature search through PubMed, Science Direct, Scopus, and the Web of Science databases was done using the following key words: Congenital hypothyroidism, birth defects, congenital anomalies.

From the 655 initially retrieved articles, 24 articles remained, and 4 additional references were found by reviewing the references of the final articles. Finally, 28 articles were selected. The prevalence of extra-thyroidal anomalies ranged from 5% to 50% in girls and from 4% to 80% in boys. Meanwhile, 20% of the permanent CH patients and 13% of the patients with transient CH had extra-thyroidal congenital malformations. Cardiac anomalies were more prevalent in girls (female to male ratio=1.6 [0.7 to 5.5]), and urogenital anomalies were more reported in boys. Most of the studies did not report the association between non-thyroidal anomalies and thyroid stimulating hormone, gender, etiology of CH, and transient and permanent CH.

Congenital anomalies are more common in CH patients compared with the general population, even in the absence of congenital syndromes or chromosomal abnormalities. The most common anomalies are cardiac, craniofacial, urogenital, and nervous system.

According to the March of Dimes (MOD) global report on birth defects, 7.9 million births occur annually worldwide with serious birth defects. The prevalence of congenital anomalies in India is 6-7%. Worldwide, NTDs affect 323,904 infants with a prevalence rate of 0.5 to 11 per 1000 births. Although prenatal sonography has been developed in recent years, the definitive diagnosis of fatal fetal malformations is best made by fetal autopsy. An autopsy not only confirms, but also provides additional information and is useful in advising parents about the risks and prevention of similar malformations in future pregnancies. The aim of the study is to study the spectrum of Neural tube defects in foetal autopsies.

This retrospective study was conducted in the Department of Pathology, Hassan Institute of Medical sciences, Hassan, Karnataka, India. 97 fetal autopsies were performed between July 2010 to June 2020, out of which 39 cases had CNS malformations. 36 cases with NTD were included in this study. All the essential clinical data were retrieved from the autopsy forms and case files. In every case, the location and morphology of the NTD and associated morphologic anomalies were noted. The statistical analysis was performed by using frequency and percentage using SPSS version 24.

Out of 36 cases, the majority of the cases were Spina bifida (27.78%) followed by Anencephaly (25%).

Congenital disorders are a great public health issue in developing countries. The multidisciplinary approaches to fetal malformations have ever increasing importance in prenatal medicine. Fetal autopsy has a vital role in diagnosis of congenital malformations and detecting the cause of death.

Congenital anomalies are a global issue and the primary reason of death in both developed and advanced countries. Congenital anomalies occur at varying rates in various populations. The purpose of this research was to determine the prevalence and pattern of congenital anomalies in newborns, as well as the associated maternal and environmental factors in newborns, presented at the Babylon teaching hospital for motherhood and pediatrics in AL-Hilla city, between 2017 and 2021.

This study follows a descriptive design, and was based on population data from the statistic registry covering the AL-Hilla city, Iraq, 2017 to 2021. The registry covers live and still births. Also, maternal and neonatal information regarding sex, birth weight, parental consanguinity, and maternal age, were recorded.

There were 214 congenitally deformed newborns among the 46,777 births in AL-Hilla city. There were 109 males (50.69 percent) and 103 females (47.90 percent). The most common congenital malformations discovered were those relating to the neurological system, followed by those relating to the musculoskeletal system.

Anomalies in the central nervous system were most apparent, however, this research can help to determine the approximate distribution of the prevalence of congenital anomalies in AL-Hilla city in Iraq. Also, by identifying their main types, information can be applied to improve the clinical performance and public policies of Iraq.

Hemifacial microsomia (HFM) is an asymmetric craniofacial malformation, which results from hypoplasia of the first and second branchial arch components and is characterized by a wide spectrum of phenotypic expressions, varying from the underdevelopment of the temporomandibular joint, mandible, facial and trigeminal nerves, masticatory muscles, ears, and hypoplastic maxillary, temporal, orbital, and zygomatic bones to conductive hearing loss due to external and middle ear deformities. Management of this developmental defect is multidisciplinary and associated with various phenotypic spectra and severities. A wide range of treatment protocols, such as surgical interventions, have been proposed, especially for mandibular hypoplasia, including rib or fibular bone grafting, distraction osteogenesis (DO), orthognathic surgery, and a combination of these procedures.

Case:

 In this study, the treatment course and 17-year follow-up of a patient with HFM were described. The treatment included autogenous costochondral grafting, followed by full-time application of an asymmetric hybrid functional appliance, fixed orthodontic therapy, orthognathic surgery, and contour modification surgery to achieve optimal facial aesthetics.

Patients can benefit from functional jaw orthopedics psychosocially and the consequent enhanced facial symmetry during childhood and adolescence is really advantageous

Rubella is an acute viral disease generally mild in its clinical manifestations. However, it is most serious for pregnant women due to the high frequency of congenital abnormalities that it causes, known as congenital rubella syndrome. This study aimed to determine rubella seroprevalence among a group of Moroccan parturients and survey physicians’ opinions regarding the situation of congenital rubella syndrome in different regions of Morocco. We prospectively enrolled 1500 women hospitalized in the Maternity Souissi of Rabat for delivery and 14 pediatricians/neonatologists who were practicing in public and private centers representing different regions of Morocco. Data on rubella serological status were extracted from the medical records of mothers. The physicians involved in this study were visited to answer the survey in person, or they completed the survey by e-mail or phone discussion. Among enrolled women, and after excluding those who did not bring back evidence of a serological assessment, 222 (17.5%) women performed a rubella serology of which 84.7% were immunized against rubella. The opinion poll of physicians showed an almost absence of reports on congenital rubella syndrome cases. All practitioners surveyed were interested to join the establishment of congenital rubella syndrome reporting system. To achieve the goals set for congenital rubella syndrome elimination, it is of primary importance to protect women from the childbearing age by vaccination and measures that help avoid any further contact with the virus. There is also a need to expand serological screening to detect and monitor seronegative women. In addition, it is necessary to diagnose and notify new cases of congenital rubella syndrome.

Caudal duplication syndrome is a rare congenital disease caused by duplication of cloaca and notochord embryonic structures in various forms. The estimated prevalence of this syndrome is 1 per 100,000 births. A range of anomalies is observed in urinary and gastrointestinal tracts as well as in skeletal and neural structures of the spine and even limbs of these patients. Various factors such as genetic disorders and conjoined twinning have been mentioned in etiology of the disease. We introduce a case of this rare disease referred to our center for imaging as an infant with increased soft tissue in perineum without excretion of meconium from birth but with evidence of duplication in the genitourinary system (vagina and urethra) and gastrointestinal tract (rectum and colon) that was subject to reconstructive surgery.

Every year, about three hundred thousands of infant deaths occur because of congenital anomalies. Some continue to live with various types of disabilities. Low and middle income countries have higher rate of congenital anomalies. It is estimated more than 100,000 cases of birth defcets occure annualy in Iran where 70 percent are preventable. There is no long term investigation on the epidemiology and secular trend of congenital anomalies in Iran. The aim of this study was to document the time trend and epidemiological features of congenital anomalies in the northwest of Iran using the Tabriz Registry of Congenital Anomalies (TRoCA) programme.

A total of 297,734 births were registered in the region by TRoCA registry during the study period to estimate the occurrence of total and selected groups of congenital anomalies based on the standard coding system of the International Classification of Diseases (ICD). Total prevalence was calculated by dividing the numerator (registered cases of congenital anomalies in the TRoCA region) by the relevant denominator (total live and stillbirths in the TRoCA region) for the same period of time.

An overall prevalence rate of 262.9 (CI95%:257.2–268.7) was estimated in the region. Anomalies of genito-urinary tract (59.2 per 10 000 births, 95% CI: 56.5–62.0), limb defects (46.3 per 10 000 births, 95% CI: 43.9.5–48.8), nervous system anomalies (39.4 per 10 000 births, 95% CI: 37.2–41.7), gastrointestinal anomalies (27.8 per 10 000 births, 95% CI: 25.9–29.7) and congenital heart diseases (37.1 per 10 000 births, 95% CI: 34.9–39.3) were accounted for 80 percent of birth defects. Total prevalence of anomalies was more than tripled in the region over the past two decades. More cases were observed in males, and those with consanguineous marriage.

The increasing trend of the occurrence of congenital anomalies indicates that appropriate care programmes and more effective prenatal screening procedures need to be implemented in the region.

Despite the significant improvement in neonatal intensive care, neonatal death is still one of the most important challenges worldwide. Understanding the causes of neonatal mortality is important for health policymakers.
This study aimed to assess neonatal mortality in an Iranian referral level Ш Neonatal Intensive Care Unit (NICU).

This cross-sectional study was conducted on the neonates who were referred to a level Ш NICU between 2014 and 2019. Data collection was performed by the research assistants, using a pre-designed checklist from the neonatal medical records. All the neonatal records of the patients who died during the infancy period were collected. Data were analyzed using SPSS (version 23).

In total, 388 (12%) out of 3,078 inpatient neonates died In this study. The mean gestational age of neonates who died was 34.9 weeks and 53% of them were males. In addition, 92 (23%) of them died when they aged between 0-7 days and hyponatremia was the most common (30.9%) abnormal laboratory finding among them. The main causes of mortality included sepsis (26%), congenital multiple anomalies (21%), prematurity (20%), surgical procedures (15%), congenital heart disease (8%), inborn metabolic disorder (6%), hypoxic-ischemic encephalopathy (2.8%), and some unknown reasons (1.2 %), respectively. Sepsis, as the most common disorder in neonatal mortality among the patients, was detected in 74 (58.27%) preterm infants, and Acinetobacter was the main microbial detected pathogen. The rate of sepsis was significantly different in different gestational ages (P<0.001).

Based on the obtained results, sepsis, prematurity, and congenital multiple anomalies are the most common causes of mortality among neonates. Causes of mortality during the first month of life were different indicating the need for evidence-based interventions and proper policymaking in the field of neonatal health.

Congenital malformations are defects that are present at birth. The purpose of the present study was to determine the status of congenital malformations and their risk factors in Noghab village, South Khorasan Province.

In this case-control study, 152 cases with congenital anomalies and 152 controls were enrolled. A researcher-made checklist and face-to-face interviews were used to record patient data. Chi-square test, Mann-Whitney U, and univariate and multivariate logistic regression in SPSS 22 were used for statistical analysis.

One hundred and nineteen (72.5%) patients were male. The overall prevalence of congenital abnormalities in the village was 4.5%. The most prevalent types of disorders were neurological (35.4%) and multiple abnormalities (30.5%). According to multivariate logistic regression, consuming barberries daily during pregnancy, having first-degree relatives with anomalies, daily use of herbal medicine and weekly consumption of pickled vegetables during pregnancy, and the existence of a chronic disease in the father were significantly associated with congenital disorders in the offspring.

In addition to the previously known risk factors for congenital malformation, consumption of barberries, herbal medicine and pickled vegetables during pregnancy, might be risk factors for congenital anomalies. These products should be used with caution in pregnant women.

The aim of this study was to explain the examples of "the Jurisprudential Rule of "Osr o- Haraj" or Denegation of Intolerable Hardship in the occurrence of congenital anomalies and genetic disorders and show that according to the current laws of the country, more of these diseases can be prevented.

Data for occurrence of congenital anomalies were derived from two major regional and national epidemiological studies based on 6,465,849 births in the country. A comprehensive review of literature was carried out on the details of ‘Denegation of Intolerable Hardship Rule. The details of medical termination of pregnancies diagnosed for congenital anomalies and the role of ‘Denegation of Intolerable Hardship’ principle in the prevention of birth defects were explored in several Focused Group Discussions formed by peditricians, geneticists, psychiatrists, neotatalogists and expert jurisprudents.

The statistical estimates indicate that there are now nearly 100,000 births with one of the birth defects occurring every year in Iran. The total prevalence of the anomalies has more than tripled in the last 18 years.

The occurrence of congenital anomalies and genetic disorders will undermine the gene pool of the population if preventive measures are not properly implemented in the community genetics services to control those disorders. According to the current law on therapeutic abortion, disorders that lead to the hardships of father, mother, family, community, as well as future generations may be diagnosed by the three specialists (before the 16th week of pregnancy, the time of onsetting the soul). They can then be referred for medical abortion. A minimum of 70,000 birth defects may be avoided using the therapeutic termination of pregnancies diagnosed for congenital anomalies if the ‘no hardship and negation of distress and constriction’ principle is suitably explored in maternal, pediatric, neonatal settings and for public health authorities.

Congenital anomalies are one of the most important causes of disability and mortality in childhood seen in developing and developed countries. Mothers with physically-abnormal newborns have unfavorable lifestyle compared to mothers with healthy infants.

The aim of this study was to determine the difference between mothers of infants with and without physical abnormalities in terms of psychosocial factors.

This is a case-control study with two study groups; the case group (n=133) consists of mothers who had babies with birth defects referred to health centers in Amol city, Iran for postnatal care in 2018. The control group (n=133) included mothers with healthy infants in this city. They were selected using a convenience sampling method. Measurement tools included a Socio-demographic form, Health-Promoting Lifestyle Profile (HPLP), Multidimensional Perceived Social Support Scale (MPSSS), Coping Strategies Scale - Short Form (CSS-SF), Prenatal Distress Questionnaire (PDQ), and General Health Questionnaire - Short Form (GHQ-SF). Data were analyzed using descriptive statistics, chi-square test, and t-test.

A total of 266 mothers with a mean age of 31.9±5.6 years were examined. There was a significant difference between the two groups of mothers in terms of overall HPLP score (P=0.01), and its dimensions of spiritual growth (P<0.05), physical activity, nutrition (P=0.01), and stress management (P<0.05). Moreover, a significant difference was reported between them in terms of MPSSS and its dimensions of social support from friends, family, and significant others (P=0.01). Furthermore, There was a significant difference between them with respect to GHQ dimensions of anxiety/insomnia, and depression (P<0.01); CSS dimensions of escape avoidance and emotion-focused coping strategies (P=0.01); and PDQ and its dimensions of concerns about the delivery and the health of the baby, and about the body weight/image (P=0.01).

Mothers of infants with and without birth defects are significantly different from each other in terms of psychosocial factors. It seems that poor psychosocial variables in mothers during pregnancy can act as a risk factor for congenital anomalies.

Congenital anomalies are considered as one of the major causes of neonatal death. The prevalent pattern of congenital anomalies may vary diachronically or geographically. With regard to the pervasiveness of under-five mortality (probability of dying between birth and exactly 5 years old) in Hamadan province in the recent years, the present study intended to determine the risk factors of congenital anomalies of newborns in Hamadan province in 2017.

The present case-control study was conducted in the hospitals affiliated to Hamadan University of Medical Sciences for 6 months in 2017. The study targeted all the newborns from birth to hospital discharge. The neonatal cases with congenital anomalies were identified through clinical examination. A report sheet was assigned to a healthy newborn, as a control, per each case of congenital anomalies born on the same day and in the same hospital. Once data was collected, they were statistically analyzed by means of SPSS V. 16 software.

According to the current results, the prevalence of congenital anomalies was 0.85% (8.5 per 1,000 live births). Genitourinary (40%), musculoskeletal (25.2%), eye, ear and neck (18.5%), chromosomal (5.9%), respiratory tract (3.7%) and cardiovascular system (2.2%) were the most common congenital anomalies, respectively. Consanguineous marriage, concomitant use of contraceptive methods and male sex were found to be the most important risk factors for congenital anomalies.

The present study aimed at identifying the various types and prevalence of congenital anomalies in Hamadan province. Regular prenatal examination and early diagnosis for prevention, early intervention and scheduled termination of pregnancy are recommended. Besides, public awareness of the disadvantages of consanguineous marriage and other pertaining risk factors affecting the incidence of congenital anomalies is also recommended.

To determine the spectrum of congenital anomalies of kidney and urinary tract (CAKUT) in Indian children, and to evaluate its clinico-epidemiological characteristics.

A tertiary-care, hospital-based cross-sectional study conducted (November 2016-October 2018) at SCBMCH & SVPPGIP Hospital included children aged ≤14 years with a diagnosis of CAKUT. Incidence of individual congenital anomalies and clinico-epidemiological characteristics of each anomaly thus considered were evaluated.

In 140 children, 9 types of congenital anomalies were reported; posterior urethral valve was most common (37.85%) followed by pelvi-ureteric junction obstruction (32.14%) and vesico-ureteric reflux (14.28%). Hypospadiasis (5%), renal agenesis (2.86%), multicystic kidney disease (2.86%), duplication of pelvi-calyceal system (2.14%), horseshoe kidney (1.42%) and ureterocele (1.42%) were other CAKUTs. A total of 68.57% were boys (girls=31.43%). The CAKUTs were observed more in children with: age 1-5 years (32.14%), unilateral disease (45%), and term delivery (67.86%), and in children of mother aged >30 years (58.57%). Diabetes was present in mothers of 4 children (gestational: 2, pre-gestational: 2), hypertension in 3, tobacco use in 5, oligohydramnios in 7 and polyhydramnios in 3 mothers. Majority of the children had asymptomatic (37.86%) manifestation followed by burning micturition (31.43%). Non-renal congenital anomalies were present in 15.71% children (gastrointestinal malformations: 5.71% were most common). Positive family history for CAKUT was seen in 7.8% cases.

The most frequent CAKUTs were posterior urethral valve and pelvi-ureteric junction obstruction in our study. The study also provided the clinico-epidemiological characteristics of CAKUT. These data can be helpful for prenatal counseling and management of CAKUTs.