جستجوی مقالات مرتبط با کلیدواژه « congenital anomaly » در نشریات گروه « پزشکی »

The health and vitality of the future society depend on the health of today's infants and the future youth of the society, and one of the factors threatening this health is congenital anomalies. Therefore, this study was conducted to determine the prevalence and some associated factors of major congenital anomalies at birth in Shahreza County during 2016-2018.

The present study was a cross-sectional study and the study population included all newborns born in 2016-2017-2018 in Shahreza County, whom information were extracted from the mother and child records of the only hospital in the county (Amir Al-Momenin Hospital) and information registration (Sib) system. The prevalence of major congenital anomalies was estimated from the collected data, and data analysis was performed to find statistical relationships between variables using multiple logistic regression test and SPSS software v.20. A probability of < 0.05 was accepted as significant.

In total, 91 infants with major congenital anomalies were identified from 4,516 records. The prevalence of major congenital anomalies was 2.64% in 2016, 1.89% in 2017, 1.27% in 2018, and 2.01% in 2016 to 2018. There was a significant relationship between cesarean delivery type 0.6 (0.4-0.9), infant birth year 0.3 (0.1-0.5), and 0.4 (0.2-0.7), with congenital anomalies in the infants (p < 0.05).

The decline in the prevalence of congenital anomalies during the years 2016, 2017 and 2018 could be attributed to the screening of congenital anomalies during the fetal period based on the existing protocols before the 20th week of pregnancy and the termination of pregnancy in cases of diagnosis of a major congenital anomaly, with the permission of a forensic doctor. This suggests that improving the quality of prenatal care can reduce the prevalence of major congenital anomalies. Therefore, by conducting genetic counseling and fetal screening, the occurrence of major congenital abnormalities can be prevented.

Sirenomelia is a rare congenital anomaly characterized by the fusion of two lower limbs, resulting in the mermaid’s tail appearance. Sirenomelia is a very rare syndrome and can be fatal to the infant. This syndrome might be sporadic or have a genetic basis. The etiology of sirenomelia is unknown but said to be multifactorial. Some maternal factors associated with sirenomelia include diabetes melitus, maternal age under 20 years and monozygote twinning.

Case report: 

This report presented four cases of sirenomelia that occurred during 2006-2019 at Fatemieh Hospital, a tertiary maternal-neonatal center, Hamadan, Iran. All of the pregnancies were complicated by oligohydramnios. None of the mothers were younger than 20 years, and none had diabetes mellitus. Moreover, their drug history during pregnancy was negative. All newborns had low Apgar scores and died a few minutes after birth, indicating their poor outcomes. None of the cases were diagnosed prenatally, and all newborns were firstborn infants.

Sirenimelia is a rare lethal condition, which requires prenatal diagnosis for abortion planning.

The birth of a neonate with a congenital anomaly who is admitted to the neonatal intensive care unit (NICU) is a threat to the formation of paternal bonding.  The present study aimed to assess the effect of fathers’ involvement in the care of neonates with congenital anomalies on father-neonate bonding in NICUs.
This quasi-experimental study with a control group was conducted on fathers of neonates with congenital anomalies admitted to the NICU of Mofid Hospital affiliated to Shahid Beheshti University of Medical Sciences in Tehran, Iran, from January 2019-September 2021. A total of 60 participants were selected via the convenience sampling method and randomly assigned to two groups of experimental and control. The Mother-to-Infant Bonding Scale was used to collect the needed data. The intervention lasted for four weeks. In the first week, fathers attended three sessions on how to provide care; thereafter, over the next three weeks, fathers became involved in the care of their newborns. The data were analyzed in SPSS software (version 21), and a p-value less than  0.05 was considered statistically significant.
After the intervention, there was a statistically significant difference between the mean scores of paternal bonding in two groups of control (4.41±2.51) and experimental (2.21±2.37) (P=0.001), with a lower score indicating a stronger paternal bond. The mean paternal bonding scores decreased to 6.59±17.1 and 4.89±0.54 in the two groups of intervention and control, respectively. The obtained results pointed to a significant difference between the two groups in terms of alterations in bonding scores (P<0.001).
As evidenced by the results of the present study, the participation of fathers in the care of their neonates with congenital anomalies was associated with a greater improvement of father-neonate bonding. Therefore, nurses need to devote more assiduous attention to the involvement of fathers in the care of these neonates.

Hirschsprung's disease (HSCR) may be accompanied by other anomalies, including congenital heart disease (CHD), resulting in additional complications. This study was performed to evaluate the prevalence and type of concomitant CHD in hospitalized children with HSCR.

All HSCR patients (n=129) admitted to Mofid Children's Hospital in Tehran, Iran, from April 2016 to August 2019 were investigated in a descriptive cross-sectional study. Two-dimensional, M-mode and pulsed, continuous, and color Doppler provided echocardiography were applied to evaluate cardiac structure and function.

CHD was observed in 48 (37.2%) cases, and the most common anomalies were Atrial Septal Defect (ASD) in 20 (15.5%), Ventricular Septal Defect (VSD) in 1 (0.8%), Patent Ductus Arteriosus (PDA) in 2 (1.6%), Tetralogy of Fallot in 3 (2.3%), ASD and Pulmonary stenosis in 2 (1.6%), ASD and PDA in 7 (5.4%), ASD and VSD in 3 (2.3%), as well as VSD and PDA in 2 (1.6%) patients.

Cardiac anomalies are relatively prevalent in the Iranian HSCR population participating in the present study. In addition, early echocardiographic evaluation in the setting of HSCR is recommended.

Scimitar syndrome is characterized by partial or total anomalous pulmonary venous return from the right lung along with pulmonary hypoplasia. Scimitar syndrome is associated with a partial anomalous pulmonary venous connection of the right lung to the inferior vena cava, right lung hypoplasia, heart dextroposition, and anomalous systemic arterial supply to the right lung. Patients are diagnosed either early with severe symptoms (infantile type) including tachypnea, chest infection, heart failure and failure to thrive or late with minimal symptoms (childhood/adult type) as a result of accidental findings. The most common anomalies associated with this syndrome are intracardiac defects with a prevalence of about 40%. Here.

 we present a case of a male infant with respiratory distress and manifestation of large ASD2 and pulmonary hypertension, who was diagnosed with scimitar syndrome after more evaluation.

This diagnosis should be considered when ASD2 with PH are diagnosed in infantile period.

Optic disc pits are rare and congenital or acquired anomalies of the optic disc, usually remaining asymptomatic. However, serous macular detachment or optic disc maculopathy is the most common complication, causing significant visual deterioration, without a current consensus about treatment. A 55-year-old woman with a past medical history of diabetes mellitus and systemic hypertension was referred for an abnormal finding in the retina. The Corrected Distance Visual Acuity (CDVA) was 20/40 in the right eye and 20/30 in the left eye. Marcus-Gunn was negative and Slit-lamp biomicroscopy revealed no pathologic findings in both eyes. Funduscopic examination showed an excavation in the inferotemporal part of the Optic Nerve Head (ONH) with serous macular detachment extending to the optic disc. Based on clinical examination and paraclinical imaging fluorescein Angiogeraphy (FAG) Optical Coherence Tomography (OCT), optic pit maculopathy was diagnosed and the patient underwent Juxtapapillary Laser Photocoagulation (JLP). After 2 years of follow-up, there were anatomical and functional improvements.

The oculo-auriculo-vertebral spectrum (OAVS) includes three closely related rare congenital diseases of different severity with an incidence of 1/3500-7000 individuals. The involvement is usually unilateral; however, bilateral involvement may also occur. In addition to craniofacial anomalies, defects in the cardiovascular, genitourinary, vertebral, and central nervous systems can be observed as well. The phenotype of the cases is highly variable. Goldenhar syndrome is the most severe form of this condition.

In total, three instructive cases of Goldenhar syndrome with different features have been reported in the present case study. The most common ear anomalies among these three cases included external auditory canal atresia, helix deformities, preauricular skin tag and/or ear pitting, microtia, and conductive hearing loss. The second case was presented with hemifacial microsomia on the more severely affected right side, and the third case had bilateral Brushfield spots and a dermolipoma ophthalmological findings.

Based on the findings of the present study, OAVS should also be considered in the differential diagnosis of the cases with facial and ear anomalies.

Gastroschisis is an abdominal wall defect that is managed by surgical reduction of herniated bowel into the abdominal cavity and abdominal wall reconstruction. Loss of abdominal domain is the main challenge that may complicate the process of gastroschisis management.

This article is about innovative manure called total bowel washing (TBW) that may improve the outcome of gastroschisis primary repair.

All neonates with gastroschisis who met the study inclusion criteria between 2006 - 2019 were enrolled and divided into two groups of conventional and TBW method of gastroschisis management. In TBW group, bowls were washed with warm saline and after a gentle enterolysis, the whole gastrointestinal tract was irrigated via a gastric tube and evacuated completely from thick meconium until the watery stool started to come out of anus slightly. Primary abdominal wall closure was performed after loop by loop bowel reduction. Gastroschisis management outcome was compared between the two groups.

15 neonates were allocated in each group. Demographic and anthropometric variables were compared and any significant difference wasn’t reported between the two groups. We observed a significantly better outcome in terms of faster GI rehabilitation, shorter time to oral feeding tolerance, less need to silo placement and shorter NICU and hospital stay in TBW method. Operation time was slightly longer in TBW group while the difference was not significant statistically.

Total bowel washing and complete evacuation of gastrointestinal tract from thick meconium will increase the success rate of primary repair and improve the outcome of gastroschisis management.

Scimitar syndrome is characterized by partial or total anomalous pulmonary venous return from the right lung along with pulmonary hypoplasia.Wesearched the mail databases such as Medline (via PubMed), Scopus and EMBASE and Google Scholar. Diagnosing infantile scimitar syndrome requires meticulous attention and high suspicion of the early referral and management. The association of the syndrome with pulmonary hypertension leads to recurrent and prolonged hospitalization. Scimitar syndrome can be initially suspected from a chest X-ray, but it is typically confirmed via Computed Tomography (CT) angiography. The clinical spectrum of Scimitar syndrome ranges from severely ill infants to asymptomatic adults, which may present  respiratory or cardiac failure, hemoptysis and pulmonary hypertension, tachypnea, chest infection, and failure to thrive. The diagnosis can be made by transthoracic or transesophageal echocardiography, angiography, or by CT or MR angiography.Considering the wide clinical spectrum of scimitar syndrome, the medical intervention depends on the severity of presentation and the amount of blood flowing to the Inferior Vena Cava (IVC) from completely or partially anomalous pulmonary veins. In the presence of significant left to right shunting and pulmonary hypertension, surgical intervention should be considered.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) syndrome is a rare congenital anomaly occurring in 1 of 300,000 births. As it has high mortality rate during the 1st year of life, adult type is very rare. Arrhythmias, heart failure, myocardial infarction, and sudden cardiac death are common presentations of ALCAPA syndrome in adults. Here, we report a 28-year-old male with malignant ventricular arrhythmia and sudden cardiac death. ALCAPA syndrome was diagnosed by coronary angiography and echocardiography; finally, cardiac surgery was performed with a good result.

The inadequate reporting of cross-sectional studies, as in the case of the prevalence of Congenital Anomaly, could cause challenges in the synthesis of new evidence and make possible mistakes in the creation of public policies. This study was conducted to critically appraise the quality of the articles involving congenital anomaly prevalence in Iranian infants with the STROBE recommendations. We performed a thorough literature search using the words "congenital anomaly" "birth defect" and "Iran" in MEDLINE/PubMed, Scopus, SID, Elmnet, Magiran, IranDoc, Iranmedex, and Google Scholar until Aug 2017. In this critical appraisal we focused on cross-sectional studies that reported the prevalence of congenital anomaly in Iranian infants. Data were analyzed using the STROBE score per item and recommendation. The results of 17 selected articles on Congenital Anomaly prevalence showed that the overall accordance of the cross-sectional study reports with STROBE recommendations was about 63%. All articles met the recommendations associated with the report of the study’s rationale, objectives, setting, key results and provision of summary measures. Methods and results were the weakest part of the articles, in which recommendations associated with the participant flowchart and missing data analysis were not reported. The recommendations with the lowest scores were those related to the sensitivity analysis (6%, n=1/17), bias (6%, n=1/17), and funding (41%, n=7/17). Cross-sectional studies about the prevalence of congenital anomaly in Iranian infants have an insufficient reporting on the methods and results parts. We recognized a clear need to increase the quality of such studies.

Congenital anomalies are conditions of prenatal origin that arepresent at birth, potentially impacting an infant's health, development and survival. The birth of a newborn with congenital anomalies imposes financial and emotional burdens on families. The aim of this study was to investigate the epidemiology of congenital anomalies in 2014 in Zabol, Iran.

This cross-sectional study was carried out in the AmirAl-Momenin Hospital between May of 2013 and April 2014. All the live born were included, and we have examined all newborns for the presence of congenital anomalies.

During the twelve months, 9,309 newbornswere included to the study. Of them,72 (0.8%) newborns were affected with a congenital malformation. The congenital anomalies affected significantly higher proportion of male newborns(66.7%) than female newborns (33.3%).Among Of them, musculoskeletal system abnormalities account for 45.9% of the total abnormalities allocating the highest frequency to itself. Subsequently, central nervous system abnormality (19.4%), gastrointestinal anomaly (15.3%), urinary tract abnormality (9.7%), chromosomal abnormality (2.8%), and multiple anomalies (1.4%) were frequent, respectively.

This study showed that prevalence of congenital anomalies isrelativelyhigh in Zabol city.The results of this study identify the necessity ofgenetic counseling and early diagnosisto prevention, care and surveillance.

Congenital anomaly is a disturbance in fetal growth and development during pregnancy and is one of the main causes of morbidity and mortality in the first year of life. In addition, this anomaly causes a large waste of heath care resources. We aimed to determine the prevalence and proportion rates of different congenital anomalies in Iran via a systematic review and meta-analysis.
The present study was performed to estimate the prevalence and proportion rates of different anomalies in Iran via a systematic review and meta-analysis. Therefore, all the studies performed in Iran between 2000 and 2016 were evaluated. For this purpose, Medlib, Scopus, Web of Science, PubMed, Cochrane Library, Science Direct, Google Scholar, Irandoc, Magiran, IranMedex, and SID databases were searched by two different expert individuals independently. For the qualification survey of the papers, the Strengthening the Reporting of Observational Studies in Epidemiology checklist was applied. Then, the extracted data were entered into STATA (ver.11.1) and analysed using statistical tests of stability and random effects models in meta-regression, a tool used in meta-analysis. The 95% confidence intervals were calculated by I-square models. Meta regression was introduced to explore the heterogeneities among studies.
Overall, 36 papers with a total sample size of 909,961 neonates were analysed. The total prevalence rate for congenital anomalies was 18/1000 live births, 23.2/1000 and 18/1000 for boys and girls, respectively. Moreover, 55.8% of all congenital anomalies pertained to boys. The greatest prevalence and proportion rates of congenital anomalies belonged to musculoskeletal disorders followed by urogenital anomalies (9.3/1000 [34%] and 5.7/1000 [20%], respectively), and the lowest figures belonged to chromosomal and respiratory system anomalies (0.8/1000 [6%] and 0.3/1000 [2%], respectively).
According to the findings of this meta-analysis, the prevalence of congenital anomalies is notably high in Iran and annually imposes huge visible and non-visible expenses on individuals, societies, and heath care systems. Therefore, preparation of tools and centres for the early diagnosis and prevention of birth defects and rehabilitation of those with congenital anomalies throughout Iran are essential.

Anorectal malformations (ARM) occur in approximately 1 in 5000 live births and affects males and females almost equally. Operative correction of pediatric ARM is of potential clinical interest; however, long-term outcome of patients in respect to probable complications requires precise follow up and surveillance. The aim of the present study was to assess the outcomes of children undergoing surgical correction of ARMs.
In a prospective follow-up study, we wanted to assess occurrences of incontinence, constipation, soiling, abdominal distension, diarrhea, stenosis, dilated sphincter and failure to thrive (FTT) in ARM patients. In addition, management of these conditions has been discussed. Reoperations have also been reviewed. The primary outcome of the study was determination of occurrence of incontinence at follow-up visits. Secondary outcomes were occurrence of constipation, anal stenosis, soiling, abdominal distension, dilated sphincter, diarrhea and FTT at follow-up visits. In addition, the decision of research team on patients at follow-up visits was considered as secondary outcomes.
Two hundred ninety patients were studied. Of the study patients, 174 children (60.4%) were boys and 114 children (39.6%) were girls. Mean age of boys was 4.8 ± 2.0 years of age and mean age of girls was 5.0 ± 2.0 years of age. The mean follow-up period of patients was 39.5 ± 29.1 months. During the study follow-up period, 63 patients (21.7%) had complications. The most common complication was constipation. It was present in 21 patients (33.3%). Soiling, incontinence, dilated sphincter, FTT, stenosis, abdominal distension and diarrhea were present in 21 (33.3%), 11 (17.5%), 9 (14.3%), 6 (9.5%), 6 (9.5%), 5 (7.9%), 3 (4.8%) and 2 (3.3%) patients respectively.
We found that the commonest complications following ARM surgery are constipation, soiling, incontinence, dilated sphincter, FTT, stenosis, distension and diarrhea. The overall complication rate was 21.7%. 7.2 % and 3.1% of study population experienced constipation and incontinency respectively. 3.1% of study population required reoperation. We revealed that outcome of surgical correction of ARMs is considerably good and complication rates are acceptable. Continence rate was acceptable.