Central Nervous System Anomalies Research Articles

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

SAT-LB19 Is There a Need to Use Gadolinium Contrast for Pituitary MRI in the Evaluation of Pediatric Short Stature and Growth Hormone Deficiency?

Validation of a semiautomated volumetric approach for fetal neurosonography using 5DCNS+ in clinical data from >\u20091100 consecutive pregnancies

ObjectiveThe aim of this study was to evaluate the validity of a semiautomated volumetric approach (5DCNS+) for the detailed assessment of the fetal brain in a clinical setting.MethodsStored 3D volumes of > 1100 consecutive 2nd and 3rd trimester pregnancies (range 15–36 gestational weeks) were analyzed using a workflow-based volumetric approach 5DCNS+, enabling semiautomated reconstruction of diagnostic planes of the fetal central nervous system (CNS). All 3D data sets were examined for plane accuracy, the need for manual adjustment, and fetal-maternal characteristics affecting successful plane reconstruction. We also examined the potential of these standardized views to give additional information on proper gyration and sulci formation with advancing gestation.ResultsBased on our data, we were able to show that gestational age with an OR of 1.085 (95% CI 1.041–1.132) and maternal BMI with an OR of 1.022 (95% CI 1.041–1.054) only had a slight impact on the number of manual adjustments needed to reconstruct the complete volume, while maternal age and fetal position during acquisition (p = 0.260) did not have a significant effect. For the vast majority (958/1019; 94%) of volumes, using 5DCNS+ resulted in proper reconstruction of all nine diagnostic planes. In less than 1% (89/9171 planes) of volumes, the program failed to give sufficient information. 5DCNS+ was able to show the onset and changing appearance of CNS folding in a detailed and timely manner (lateral/parietooccipital sulcus formation seen in < 65% at 16–17 gestational weeks vs. 94.6% at 19 weeks).ConclusionsThe 5DCNS+ method provides a reliable algorithm to produce detailed, 3D volume–based assessments of fetal CNS integrity through a standardized reconstruction of the orthogonal diagnostic planes. The method further gives valid and reproducible information regarding ongoing cortical development retrieved from these volume sets that might aid in earlier in utero recognition of subtle structural CNS anomalies.

Study of birth anomalies in twin pregnancies

Introduction: Twin pregnancies with congenital malformations in foetuses is associated with higher morbidity and mortality both for the mother as well as the child Its incidence is 4 times more common than single births. This study highlights rare anomalies and complications in twins Materials and Methods: This is a prospective study which includes women with twin pregnancies diagnosed in first trimester by sonography. The cases were collected from a maternity hospital over a period of one year. Details of gestational age, gender, zygosity, chorionicity, anomalies and complications of the twins were taken into account along with age and parity of the mother. Results: Out of 2023 pregnancies 41 were twin pregnancies in which 23 were dizygotic twins and 18 were monozygotic twins based on Weinberg formula. Congenital anomalies and fetal complications were observed in 4 cases (17.39%) of dizygotic twins and 8 cases (44.44%) of monozygotic twins. The affected twins predominantly belonged to female sex. Monozygotic twins showed TRAP Sequence with Acephaly and Twin to twin transfusion syndrome in 2 and 3 pairs respectively. Pregnant women with twins were between 25 to 40 years of age group. Conclusion: Twining rate was 20.26/1000 deliveries. Central nervous system anomalies were seen in women with no folic acid intake preconceptionly. Complications and anomalies were among monozygotic twins. Therefore chorionicity of the placenta should be detected in first trimester of pregnancy in order to prevent fetal deaths by undertaking appropriate medical measures. Keywords: Monozygotic (MZ), Dizygotic (DZ), Twin to twin transfusion syndrome, (TTTS), Twin reversed arterial perfusion, Sequence (TRAP sequence), Congenital anomalies (CAs).

Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations-A Population-Based Study.

The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies. A population-based nationwide register study. All cases with omphalocele were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded and analyzed, and perinatal and infant mortality and prevalence were calculated. There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively. Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.

Fetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo‐Optic Dysplasia

To investigate prenatal imaging findings supporting a diagnosis of suspected septo-optic dysplasia (SOD) by fetal ultrasound (US), magnetic resonance imaging (MRI), or both. A retrospective review identified 11 patients with SOD: 9 had a clinical diagnosis of SOD postnatally, and 2 were terminated on the basis of suspicious prenatal imaging. Prenatal and neonatal imaging of the cavum septi pellucidi (CSP), frontal horns (FHs), and lateral ventricles was evaluated. The appearance of the CSP varied on US and MRI. Complete ("fused") FHs or partial absence of the CSP was reported in 6 of 11 patients by fetal US and 7 of 8 patients by fetal MRI. The diagnosis of SOD was prospectively suspected prenatally in 6 of 11 and in an additional 5 of 11 cases retrospectively. Fetal MRI incorrectly initially reported normal morphologic abnormalities for 2 cases with partial absence of the CSP, whereas US accurately identified the morphologic abnormalities in 1 of these cases before MRI. Imaging features were first suggested at anatomic US (4 patients) and follow-up prenatal US (2 patients). Neonatal imaging was concordant in all 9 live births: 5 completely absent CSP, 3 partially absent CSP, and 1 completely present CSP. Clinical manifestations included optic nerve hypoplasia (9 of 9), panhypopituitarism (5 of 9), and neurodevelopmental delays. Primary imaging features of SOD are "continuous" FHs with complete or partial absence of the CSP. Septo-optic dysplasia can be suspected in utero and can appear isolated but has substantial associated central nervous system anomalies identified on fetal MRI or after birth. Partial absence of the CSP can be a prenatal sign of suspected SOD, although fetal MRI lacked the spatial resolution to identify it accurately in all cases.

Fetal Neuroimaging Update

To review the current imaging techniques available for the evaluation of the fetal brain. Ultrasound remains the initial screening modality with routine scanning typically performed at 18-20 weeks gestation. When a central nervous system (CNS) abnormality is noted by ultrasound, MRI is increasingly being used to further clarify findings. Fetal MRI has the unique ability to provide high detailed anatomical information of the entire human fetus with high contrast resolution. This technique has grown due to the development of rapid single shot image acquisition sequences, improvement of motion correction strategies and optimizing shimming techniques. The assessment of fetal CNS anomalies continues to improve. Advanced MRI techniques have allowed for further delineation of CNS anomalies and have become a cornerstone in the assessment of fetal brain well-being. Those interpreting fetal studies need to be familiar with the strengths and limitations of each exam and be sensitive to the impact discussing findings can have regarding perinatal care and delivery planning. Collaboration with neurologists, neurosurgeons, geneticists, counselors, and maternal fetal specialists are key in providing the best care to the families we treat.

Three-Dimensional Printing of Fetal Models of Congenital Heart Disease Derived From Microfocus Computed Tomography: A Case Series.

This article presents a case series of n = 21 models of fetal cardiovascular anatomies obtained from post mortem microfocus computed tomography (micro-CT) data. The case series includes a broad range of diagnoses (e.g., tetralogy of Fallot, hypoplastic left heart syndrome, dextrocardia, double outlet right ventricle, atrio-ventricular septal defect) and cases also had a range of associated extra-cardiac malformations (e.g., VACTERL syndrome, central nervous system anomalies, renal anomalies). All cases were successfully reconstructed from the microfocus computed tomography data, demonstrating the feasibility of the technique and of the protocols, including in-house printing with a desktop 3D printer (Form2, Formlabs). All models were printed in 1:1 scale as well as with the 5-fold magnification, to provide insight into the intra-cardiac structures. Possible uses of the models include education and training.

Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation

BackgroundChiari malformation type 1 affects approximately one in 1,000 people symptomatically, although one in 100 meet radiological criteria, making it a common neurological disorder. The diagnosis of underlying conditions has become more sophisticated, and new radiological markers of disease have been described. We sought to determine the prevalence and impact of additional comorbidities and underlying diagnoses in patients with Chiari malformation type 1 on symptomatology and surgical treatment. MethodsA retrospective review of 612 pediatric patients with a Chiari malformation type 1 diagnosis and imaging data evaluated between 2008 and 2018 was performed. Because of extensive clinical heterogeneity, patients were separated into four categories based on their primary comorbidities (nonsyndromic, central nervous system, skeletal, and multiple congenital anomalies) to identify associations with age of onset, radiographic measurements, syringomyelia, and surgical treatment. ResultsThe largest group had nonsyndromic Chiari malformation type 1 (70%) and the latest age at diagnosis of any group. In the syndromic group, 6% were diagnosed with a known genetic abnormality, with overgrowth syndromes being the most common. Patients with multiple congenital anomalies had the earliest Chiari malformation type 1 onset, the most severe tonsillar ectopia and obex position, and were overrepresented among surgical cases. Although there were no statistically significant differences between groups and rates of syrinx, we observed differences in individual diagnoses. ConclusionThe underlying diagnoses and presence of comorbidities in patients with Chiari malformation type 1 impacts rates of syringomyelia and surgery. Although most Chiari malformation type 1 cases are nonsyndromic, clinical evaluation of growth parameters, scoliosis, and joint hypermobility should be routine for all patients as they are useful to determine syringomyelia risk and may impact treatment.

Evaluations of pregnancy admitted to perinatology clinics that pregnants have fetal anomalies

Objective Our objective was to investigate the most common anomalies in our region with a retrospective evaluation of the congenital anomaly cases, who applied to the outpatient department of perinatology Materials and Methods: We was reviewed file of congenital anomaly cases, who applied to the outpatient department of perinatology in the Medical Faculty at Ondokuz Mayıs University between May 2014 and May 2019,and to determine the risk factors related to these anomalies. Seven hundred twenty-five pregnant women, whose infants were diagnosed with congenital anomalies in our center, were included in the present study. Parameters like the mother's age, consanguineous parents, history of previous habitual abortions, history of siblings with anomalies, number of parity and abortus history, gestational week at diagnosis, smoking, alcohol and drug consumption in the first trimester, periconceptional folic acid use, co-morbidities, ultrasonographic findings, presence of the karyotype analysis, double and triple screening tests, termination decisions were compared with the anomaly types. Results: In our study, we determined the incidence of anomalies in our region with some limitations. Except for the central nervous system anomalies (most common anomaly group), the incidence ranking of the anomalies in our region was different from the rankings reported in other national studies The CVS anomalies were the second most common anomaly group. Conclusion: An education program prepared for the pregnant women in our region about the goal of the diagnostic and screening tests and routine pregnancy controls will increase the chance of early diagnosis. We believe that the conduction of region-based prenatal and postnatal studies instead of hospital-based studies will contribute more to a clear understanding of the anomaly incidences in our region.

Descripción y prevalencia de las anomalías del sistema nervioso central en los programas de vigilancia de defectos congénitos en Bogotá y Cali, Colombia, en el periodo del 2001 a 2016

Antecedentes en Colombia para el 2015 las anomalías del Sistema Nervioso Central (SNC) constituyeron el 16% de la mortalidad por anomalías congénitas, una tasa de sobrevida alta que genera cronicidad en el manejo del paciente y aumento en la carga socioeconómica.&#x0D; Objetivo describir las características clínicas y prevalencia de las anomalías del SNC en Bogotá y Cali del 2001 al 2016.&#x0D; Métodos La información se obtuvo de los Programas de Vigilancia y Seguimiento de Anomalías Congénitas de Bogotá y Cali, realizando un análisis retrospectivo basado en casos y controles del ECLAMC. Se clasificaron los casos por grupos: aislados, polimalformados y sindrómicos. La proporción de casos y controles fue 1:4 respectivamente. Se analizó la distribución de frecuencias y las variables cuantitativas con prueba t de Student.&#x0D; Resultados Se encontraron 924 anomalías del SNC de 488 521 nacimientos y 3696 controles, para una tasa de 18.91/10 000 nacidos vivos. Las malformaciones más frecuentes fueron hidrocefalia (4.24/10 000), microcefalia (3.95/10 000) y defectos del tubo neural (DTN) (3.54/10 000). Se encontró diferencia estadísticamente significativa entre peso, talla y edad gestacional entre casos y controles.&#x0D; Conclusión Colombia continúa presentando una alta prevalencia de anomalías del SNC, sin embargo, se observa una tendencia a la reducción cuando se compara con las tasas de otros países. Se pudo concluir además la fuerte asociación de las anomalías congénitas del SNC con el parto pretérmino y prematuro, lo que tiene un alto impacto en la morbimortalidad y discapacidad.

Fetal Santral Sinir Sistemi Anomalilerinin Değerlendirilmesi; Referans Merkez Perinatoloji Konsey Verileri

INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn’t give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99±6.50 (14-42) years, the mean gestational age was 22.63±7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones.

Audit of level II scans in a tertiary center of a middle-income country (MIC).

Context:Significant anomalies are those that are lethal or those that require prolonged follow-up and unaffordable treatments. Detection of these anomalies allows early termination or the support systems necessary for pregnancies with these diagnoses. Anxiety associated with overdiagnosis makes the woman a victim of modern imaging technology. However, accurate detection of significant anomalies in a busy scan room of a developing country with the need to cater to large numbers is particularly challenging.Aims:The aim was to audit the diagnostic accuracy in a busy scan room.Settings and Design:Retrospective cohort in a tertiary center.Methods and Materials:Audit of significant anomalies identified at the 20-week scan was performed after the expected date of confinement. Anomalies that were missed or overdiagnosed were noted.Statistical Analysis Used:All the categorical variables in this research were summarized using counts and percentages.Results:Twenty-eight thousand women underwent morphology ultrasound during the study period. 963 (3.4%) women were detected to have anomalies at birth. Multiple anomalies were seen in 285 (30%) cases and isolated ones in 678 (70%) cases. Anomalies of the genitourinary system were the commonest followed by the anomalies of central nervous system. Only 53 (0.2%) anomalies were missed. They were mainly syndromes and anomalies of the cardiovascular system. The most significant anomalies that were identified could be diagnosed with a basic ultrasound machine.Conclusions:910/963 (95%) of significant anomalies can be identified even in busy centers if a systematic assessment approach is ensured.

Demographic characteristics of cases diagnosed with cleft palate

Aim: The aim of this study is to retrospectively evaluate the cleft palate cases in our neonatal clinic and to examine the associated clinical features, predisposing factors, accompanying anomalies, additional findings, treatment approaches and follow-up results.Material and Methods: The study included babies that were diagnosed with cleft palate in our Neonatal Intensive Care Unit between January 2014 and December 2018. The etiological risk factors, demographic characteristics, clinical features and concomitant malformations of the patients included in the study were retrospectively recorded from the patient files and the database system of our hospital.Results: A total of 70 cleft palate patients were observed over a five year period. Of these, 30 (42.9%) were female and 40 (57.1%) were male. The mean gestational age was 38 ± 2.9 weeks and the mean birth weight was 2845 ± 700 grams. 77.1% of the patients were found to additionally have cleft lips. 27 patients (38.5%) had cardiac defects, 18 (25.7%) had central nervous system anomalies and 4 (5.7%) had hypothyroidism. 24 (34.3%) of the parents were consanguineous. The median age at the time of the initial operation was 13 months for cleft palate cases and 5 months for cleft lip cases.Conclusion: As a result, treatment and follow-up of patients with cleft palate defect requires a multidisciplinary approach. These patients should undergo a thorough examination and evaluation. Since many syndromes or malformations may accompany the palate defects, these cases should be investigated with respect to genetic disease and other system anomalies.

Gender-related differences in etiology of organic central precocious puberty

Central precocious puberty (CPP) is idiopathic in 90% of girls and 60% of boys, while some cases are caused by lesions of central nervous system (CNS), a condition often referred to as organic CPP. We aimed to analyze the etiology of organic CPP in a large cohort of girls and boys and determine gender-related differences. Medical files of 256 girls and 120 boys diagnosed and treated for CPP in a single center in the last two decades were reviewed. Patients were classified into four groups with respect to previous history and MRI findings: (1) previously established CNS pathology at the time of diagnosis, (2) novel CNS pathology previously asymptomatic, (3) incidentalomas considered to be unrelated to CPP, and (4) completely normal MRI. Group 1 and 2 were considered as organic CPP whereas group 3 and 4 were considered as idiopathic CPP. Prevalence of CNS pathology was significantly higher in boys than girls (21.7% vs 6.2%). Previous CNS pathologies such as developmental anomaly of CNS, parenchymal injury, necrotic lesions and hydrocephalus were present in 3.5% of girls and 8.3% of boys. Prevalence of novel CNS pathology as determined by imaging among neurologically asymptomatic patients was 2.8% in girls and 14.5% in boys. The most common novel CNS pathologies in boys were hamartomas (5%) and suprasellar arachnoid cysts (3.3%); which were significantly lower in girls (0.8 and 0.8% respectively). Onset of organic CPP was before six years in girls, and seven years in boys. Organic CPP was 3.5 times more common in boys compared to girls. It is possible to detect an underlying CNS pathology in one out of every five boys with CPP. Frequency and distribution of organic etiology also differ between girls and boys, hypothalamic hamartomas and suprasellar arachnoid cysts being more common in boys than girls. The likelihood of novel intracranial pathology associated with CPP is quite low in girls with an onset after six years of age and in boys with an onset after seven years of age.

Congenital anomalies: Occurrence and potential risk factors

Background/Aim: Congenital malformations still represent one of the most important causes of prenatal and infant death. The study goal was to analyze occurrence and outcomes of different types of congenital anomalies from the tertiary referral center during a ten-year period. Moreover, study aimed at examining potential predictors of congenital anomalies based on patients? characteristics and medical history data. Methods: Study included all pregnant women directed to Clinic of Obstetrics and Gynecology Clinical Center of Serbia due to prenatally diagnosed congenital fetal anomalies during past ten years. Upon admission to our clinic a detailed general medical and obstetrical history were taken from every patient. All women underwent genetic testing. Ultrasonography and magnetic resonance were diagnostic methods for fetal malformations confirmation. Results: Study included 773 pregnant women aged from 18 to 46 years. Out of registered nine different groups of fetal anomalies/malformations, the most common were malformations of the central nervous system, while majority of fetuses had combined multiple anomalies. Genetic cause for congenital anomalies was present in 25.2% of pregnancies. Medical pregnancy abortion was performed in 71.8% of cases. Only 10.2% of pregnancies ended in term. The best outcome for children was obtained in case of gastrointestinal anomalies (52% live-born). Contrary only one child with neck and thorax malformations could be saved. According to logistic regression the most important predictor of having a child with combined multiple anomalies was mother?s age, while predictor of central nervous system anomalies was gestational diabetes. The significant predictor of genetic anomalies was mother?s age. Conclusion: In our sample neurological congenital anomalies were the most common, although abnormalities of all organ systems were registered. Majority of pregnancies had to be discontinued due to combined multiple anomalies caused by genetic disorders. Older mother?s age and diabetes can imply on the increased risk for fetal malformations.

Antioxidant and cytotoxic activities of curly dock (Rumex crispus L., Polygonaceae) fruit extract

Background/Aim. Congenital malformations still represent one of the most important causes of prenatal and infant death. The study aim was to analyze occurrence, outcomes and risk factors of different types of congenital anomalies. Methods. The study included all pregnant women directed to Clinic of Obstetrics and Gynecology, Clinical Center of Serbia, Belgrade due to prenatally diagnosed congenital fetal anomalies during past ten years (January 1, 2008?December 31, 2017). Upon admission to our Clinic a detailed general medical and obstetrical history were taken from every patient. All women underwent genetic testing. Ultrasonography and magnetic resonance were diagnostic methods for fetal malformations confirmation. Results. The study included 773 pregnant women aged from 18 to 46 years. Out of registered nine different groups of fetal anomalies/malformations, the most common were malformations of the central nervous system, while majority of fetuses had combined multiple anomalies. Genetic cause for congenital anomalies was present in 25.2% of pregnancies. Medical pregnancy abortion was performed in 71.8% of cases. Only 10.2% of pregnancies ended in term. The best outcome for children was obtained in case of gastrointestinal anomalies (52% live born). Contrary, only one child with neck and thorax malformations could be saved. According to logistic regression the most important predictor of having a child with combined multiple anomalies was mother?s age, while predictor of central nervous system anomalies was gestational diabetes. The significant predictor of genetic anomalies was mother?s age. Conclusion. In our sample neurological congenital anomalies were the most common, although abnormalities of all organ systems were registered. Majority of pregnancies had to be discontinued due to combined multiple anomalies caused by genetic disorders. Older mother?s age and diabetes can imply on the increased risk for fetal malformations.

Prevalence and Spectrum of Fetal Congenital Anomalies: A Hospital Based Study from Mid-Western Part of Nepal

Introduction: To estimate the prevalence and pattern of congenital anomalies through obstetric ultrasound on pregnant women visiting Rapti sub-regional hospital, Ghorahi, Dang, Nepal.&#x0D; Methods: A descriptive cross sectional study was conducted among 10,380 pregnant women visiting Radiology department of Rapti sub-regional hospital from January 2016 to July 2017. The findings of transabdominal ultrasonography (USG) performed by Radiologist and information regarding women’sage and gestational age were recorded. The images of any significant cases were also saved. Data wereanalyzed based on study objectives using descriptive statistics such as frequency, percentage, mean, rangeand standard deviation. The classification of the malformation was done based on the anatomical system.&#x0D; Results: Out of 10,380 ultrasound performed during the study period, 106 (1.02%) pregnant women presented with different congenital anomalies. The antenatal prevalence of congenital anomalies was 10.21 per 1000 pregnant women. The mean maternal age was 25.9 ± 4.80 years. Regarding gestation age, 87 (82.1%) anomalies were detected at second trimester of pregnancy. Most commonly involved body system was central nervous system 51 (48.1%), followed by cardiovascular system 12 (11.3%), musculoskeletal system 10 (9.4%), gastrointestinal system 5 (4.7%), respiratory system 5 (4.7%), genitourinary system 4 (3.8%). Other anomalies were cystic hygroma 9 (8.4%), hydrops fetalis 4 (3.8%), cleft lip 3 (2.8%), pelvic cystic lesion 2 (1.8%) and conjoined twins 1 (0.9%).&#x0D; Conclusion: The prevalence of congenital anomalies is high in mid-western part of Nepal. Central nervous system anomalies were more common than other anomalies.

A prospective observational study of associated anomalies in hirschsprung’s disease

Background: Hirschsprung’s Disease (HSCR) is the commonest congenital gut motility disorder and is characterized by the absence of ganglion cells in a variable length of the distal gut. According to literature , HRSCD may be associated with a chromosomal abnormality or other congenital anomalies in approximately 20% of cases HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the a ganglionic segment, suggesting the involvement of one or more gene (s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance. The objective of this study was to collect and study personal and family history and any information regarding known associated anomalies in patients diagnosed as Hirschsprung's disease.Methods: Here author present a series of 89 consecutive HSCR patients who were admitted or attended the Pediatric Surgery OPD of in a tertiary care Government medical college, who were evaluated for associated malformations with the help of available non-invasive investigation.Results: Congenital heart diseases and Down’s syndrome were the two most common associated anomalies. Genitourinary anomalies, Limb anomalies and central nervous system anomalies were other associated anomalies. Conclusions: This study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as CNS anomalies. Based on the results of this study, in addition to meticulous general examination author suggest performing cardiologic assessment in patients diagnosed with Hirschsprung’s disease based on clinical features and according to the standards of care adopted for the general population.

Pre- and Postnatal Diagnosis of Congenital Central Nervous System Anomalies in Iceland in 1992-2016

The incidence of congenital anomalies of the central nervous system (CNS) in Iceland during 1992-2016 was examined along with timing of diagnosis, maternal residence, known risk factors and perinatal outcomes. This was a retrospective study of all fe-tuses and newborns diagnosed with a CNS anomaly during the study period and their mothers. Information was obtained from the Icelandic Birth Registry and from maternal and neonatal medical records. Descriptive and inferential statistics were used in data analyzing. Annually, 3-12 cases of congenital CNS anomalies were diagnosed. Five year period incidence ranged from 1.4-2.4/1000 newborns, highest in 2012-2016. Over 89% were diagnosed -prenatally, of those 80% were terminated. The average gestational age at diagnosis of anencephaly was 19,3 weeks 1992-1996 vs. 11.6 weeks 2012-2016 (p=0,006). Urban area prenatal diagnosis was higher (94%) than rural (80%) (p=0.006). Known risk factors among mothers were uncommon, except for maternal obesity during the period 2012-2016 (23%). Of 57 live born children with CNS anomalies 37 (65%) were alive at the time of the study. The incidence of congenital anomalies of the CNS is stable and maternal risk factors are infrequent. Around 90% were diagnosed prenatally. Fetal anencephaly was diagnosed earlier at the end of the study period, after the introduction of a 11-14 week ultrasound scan in 2003, along with increased training among -healthcare professionals and improved ultrasound equipment. Higher prenatal detection rate in urban areas compared with rural may be explained by fewer ultrasound examinations being performed in less populated health districts, staff consequently receiving less training and experience and also with less advanced equipment.

Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis.

Background:Reports of systemic associations in patients with Isolated Sagittal Synostosis (ISS) are sparse. Craniofacial surgeons, and other providers, should be aware that a significant proportion of patients with ISS may have syndromic or systemic involvement. This study investigates the incidence of systemic disease and syndromic diagnosis in a cohort of patients presenting with ISS (ie, patients with sagittal synostosis without other sutural involvement).Methods:This study consists of a retrospective review of patients diagnosed with ISS between 2007 and 2017 at a single institution. Patients were divided according to onset (early <1 year, late >1 year) of ISS. Patient notes were examined for congenital anomalies, systemic conditions, and molecular testing. Only patients with isolated sagittal fusion—meaning, patients with sagittal synostosis and no other sutural involvement—were included.Results:Three hundred seventy-seven patients met the inclusion criteria: systemic conditions were identified in 188/377 (50%) of them. One hundred sixty-one patients with early onset (Group A), and 216 patients with late onset ISS (Group B) were identified. Systemic involvement was identified in 38% of Group A and 60% of Group B, which was statistically significant (P < 0.001). Forty-eight of 377 (13%) of patients had a syndromic diagnosis, and 79% of these were confirmed via genetic testing. Thirty-five percent of patients were diagnosed with central nervous system anomalies and 16% had craniofacial anomalies.Conclusions:Nearly 50% of the patients initially diagnosed with ISS were found to have some form of systemic involvement. This supports affording full pediatric and genetic evaluation with molecular testing to these children.