Central Nervous System Anomalies Research Articles

MRI Evaluation of Vasculopathy and Additional Intracranial Manifestations in Morning Glory Disc Anomaly

Morning glory disc anomaly (MGDA) is rare, but its fundoscopic findings are well documented in the ophthalmologic literature. It is sporadic, without sexual predisposition, and usually unilateral. Furthermore, it is associated with numerous central nervous system anomalies, including vasculopathy. This case series reports four pediatric patients over a 3-year period in whom ophthalmologic evaluation identified MGDA. Magnetic resonance imaging and magnetic resonance angiography were subsequently performed to assess for associated intracranial vascular anomalies. This report is of significance because it demonstrates the spectrum of intracranial vasculopathy in this rare entity.

Use of Artificial Intelligence in Ultrasound Diagnosis of Fetal Central Nervous System Anomalies Between 19 and 22 Weeks’ Gestation

Use of Artificial Intelligence in Ultrasound Diagnosis of Fetal Central Nervous System Anomalies Between 19 and 22 Weeks’ Gestation

Incidence of neural tube defects and associated anomalies in a tertiary care hospital

Abstract Background: Neural tube defects (NTDs) are the second most common congenital malformations after cardiac anomalies. The rate of associated malformation is reported to be 17%–80%. NTDs could also be a component of syndromic process. Objective: The objective of the study was to study the incidence of NTDs and associated anomalies. Methods: A hospital-based observational study was carried out among 6934 pregnant women referred for ultrasound. Pregnant women with NTDs were included. Detailed maternal history and clinical data were recorded. All ultrasound examinations were performed transabdominally by a radiologist using a 1–5 MHz convex array transducer (Voluson S8). Results: During this period of study, a total of 6934 pregnant women were screened and 47 cases of NTDs were detected and included, giving an incidence of 6.7 in 1000 conceptions (95% confidence interval = 5.02–8.92). NTDs were more common in mothers of age group 20–30 years. Spina bifida was the most common type of NTD in 53% of the cases. The most common type of spina bifida was meningomyelocele in 56%. The most common associated central nervous system (CNS) anomaly was Chiari II malformation. Conclusion: The most common NTD was spina bifida. CNS anomalies are more commonly associated with NTDs, followed by extremity defects.

Encephalocraniocutaneous Lipomatosis: A Case Report.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome and subclassification of oculoectodermal syndrome. Encephalocraniocutaneous lipomatosis may be associated with postzygotic mutations. However, absence of an identifiable mutation does not preclude a diagnosis of ECCL. Encephalocraniocutaneous lipomatosis commonly causes skin, eye, and central nervous system anomalies. Diagnosis can be made through genetic sequencing or standardized clinical criteria. One clinically apparent major criterion for the diagnosis of ECCL is nevus psiloliparus (NP), a fatty nevus with overlying nonscarring alopecia. In this case, a 50-day-old female infant with uncomplicated birth history presented to dermatology clinic for evaluation of 2 superficial cranial masses that had been present since birth without regression or evolution. One of the masses was located within the hairline and demonstrated overlying nonscarring alopecia, suspicious of NP. Because of concern for ECCL, brain magnetic resonance imaging was ordered and revealed 2 intracranial lipomas. Genetic testing was inconclusive. Excision of the masses was performed at the request of the parents for cosmetic purposes. Histologic evaluation of the surgical specimens confirmed the diagnosis of NP and ECCL. A suspected NP should raise concern for ECCL and prompt further evaluation for systemic involvement. In particular, patients with suspected ECCL should be screened for ocular and CNS involvement. Early identification and diagnosis are important for prognostication because patients with ECCL are at increased risk of developing neoplasms of the head and neck and may require more frequent screening examinations.

Frequency of major congenital malformations in neonates born in three tertiary care hospitals of Pakistan.

Objective: To assess the frequency of major congenital anomalies in newborns delivered in three different hospitals of Pakistan. Study Design: Cross Sectional study. Setting: Department of Pediatrics Hameed Latif Teaching Hospital, Lahore, Ittefaq Hospital Lahore and HITEC-IMS Taxilla. Period: Jan 2023 to November 2023. Methods: 205 neonates who met the inclusion criteria were included in the study from labour room of Hameed Latif Teaching Hospital Lahore, Ittefaq Hospital Lahore and HITEC-IMS Taxilla. Informed consent was obtained from parents. Demographic variables (name of mother, gender, birthweight and gestational age at birth) were recorded. Then neonates were admitted in NICU and evaluated for presence of congenital malformations including cardiovascular system defects, limbs anomalies, genitourinary system, central nervous system and chromosomal anomalies. All data was entered in specially designed performa. Results: We found that overall gestational age was greater than 32 weeks with mean age of 37.190±2.00 weeks. Mean birth weight was 2.938±0.31 Kg. Frequency and %age of patients according to gender was 60% males and 40% females. Major congenital malformation was seen in 2.9% patients. Among infants with major congenital malformations, cardiovascular system defects were seen in 33.3% infants, limb anomalies 16.7%, genitourinary system 16.7% and central nervous system defects were 33.3%. Parents of 67.7% of cases were cousins. It was observed that only 32.3% of the mothers had taken the recommended daily dose of folic acid in antenatal period. Conclusion: Central nervous system and cardiovascular system defects were the most prominent anomalies detected. Prenatal diagnosis may be helpful in decreasing mortality by offering early termination.

Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis.

Prenatal Exome (pES) or Genome (pGS) Sequencing analysis showed a significant incremental diagnostic yield over karyotype and chromosomal microarray analysis (CMA) in fetal structural anomalies. Optimized indications and detection rates in different fetal anomalies are still under investigation. The aim of this study was to assess the incremental diagnostic yield in prenatally diagnosed Central Nervous System (CNS) anomalies. A systematic review on antenatal CNS anomalies was performed according to PRISMA guidelines, including n = 12 paper, accounting for 428 fetuses. Results were pooled in a meta-analysis fitting a logistic random mixed-effect model. The effect of interest was the incremental diagnostic rate of pES over karyotype/CMA in detecting likely pathogenic/pathogenic Single Nucleotide Variants (SNVs). A further meta-analysis adding the available pGS studies (including diagnostic coding SNVs only) and submeta-analysis on three CNS subcategories were also performed. The pooled incremental diagnostic yield estimate of pES studies was 38% (95% C.I.: [29%;47%]) and 36% (95% C.I.: [28%;45%]) when including diagnostic SNVs of pGS studies. The point estimate of the effect resulted 22% (95% C.I.: [15%;31%]) in apparently isolated anomalies, 33% (95% C.I.: [22%;46%]) in CNS-only related anomalies (≥1) and 46% (95% C.I.: [38%;55%]) in non-isolated anomalies (either ≥ 2 anomalies in CNS, or CNS and extra-CNS). Meta-analysis showed a substantial diagnostic improvement in performing Prenatal Genome-Wide Sequencing analysis (Exome or Genome) over karyotype and CMA in CNS anomalies.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.

Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome

PurposeBiallelic variants in FIG4 or VAC14 are associated with Yunis-Varón syndrome (YVS), which is characterized by multisystem involvement including skeletal findings, craniofacial dysmorphisms and central nervous system anomalies. Pathogenic variants in those same genes have also been associated with a predominantly neurological phenotype and with nonsyndromic conditions, such as Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. By describing 5 new cases of FIG4-associated YVS and reviewing the literature, we better delineate the clinical phenotype associated with loss of function of those genes. We also explored osteopenia mechanisms by assessing bone physiologic parameters in a mouse model. MethodsExome sequencing or Sanger sequencing was performed in 5 unrelated individuals. Bone histomorphometry was performed in Fig4plt/plt mice and compared with wild type. Relevant literature from the last 10 years was reviewed. ResultsAll individuals presented a phenotype overlapping the typical YVS and the brain anomalies and neurologic syndrome. Clinical features included developmental delay, structural brain malformations, and skeletal anomalies, such as osteopenia. Biallelic FIG4 variants were identified in each individual. In mice, bone histomorphometry parameters suggested that osteopenia might be secondary to reduced bone formation rather than increased bone degradation. ConclusionThis study contributes to a better understanding of the phenotypic variability related to pathogenic variants in FIG4 or VAC14 and suggests an important overlap between previously described phenotypes. The brain anomalies and neurologic syndrome is likely in the same spectrum as classical YVS. Further studies are still needed to clarify the effects of partial loss-of-function variants and to identify genotype-phenotype correlations.

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.

To determine the incremental diagnostic yield of exome sequencing (ES) after negative chromosomal microarray analysis (CMA) in cases of prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify the associated genes and variants. A systematic search was performed to identify relevant studies published up until June 2022 using four databases: PubMed, SCOPUS, Web of Science and The Cochrane Library. Studies in English reporting on the diagnostic yield of ES following negative CMA in prenatally diagnosed partial or complete ACC were included. Authors of cohort studies were contacted for individual participant data and extended cohorts were provided for two of them. The increase in diagnostic yield with ES for pathogenic/likely pathogenic (P/LP) variants was assessed in all cases of ACC, isolated ACC, ACC with other cranial anomalies and ACC with extracranial anomalies. To identify all reported genetic variants, the systematic review included all ACC cases; however, for the meta-analysis, only studies with ≥ three ACC cases were included. Meta-analysis of proportions was employed using a random-effects model. Quality assessment of the included studies was performed using modified Standards for Reporting of Diagnostic Accuracy criteria. A total of 28 studies, encompassing 288 prenatally diagnosed ACC cases that underwent ES following negative CMA, met the inclusion criteria of the systematic review. We classified 116 genetic variants in 83 genes associated with prenatal ACC with a full phenotypic description. There were 15 studies, encompassing 268 cases, that reported on ≥ three ACC cases and were included in the meta-analysis. Of all the included cases, 43% had a P/LP variant on ES. The highest yield was for ACC with extracranial anomalies (55% (95% CI, 35-73%)), followed by ACC with other cranial anomalies (43% (95% CI, 30-57%)) and isolated ACC (32% (95% CI, 18-51%)). ES demonstrated an incremental diagnostic yield in cases of prenatally diagnosed ACC following negative CMA. While the greatest diagnostic yield was observed in ACC with extracranial anomalies and ACC with other central nervous system anomalies, ES should also be considered in cases of isolated ACC. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

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

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

Prenatal diagnosis and molecular cytogenetic characterization of fetuses with central nervous system anomalies using chromosomal microarray analysis: a seven-year single-center retrospective study

Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal the pathogenic CNVs (pCNVs) that were associated with fetal CNS anomalies. We enrolled 5,460 pregnant women with different high-risk factors who had undergone CMA. Among them, 57 subjects with fetal CNS anomalies were recruited. Of the subjects with fetal CNS anomalies, 23 were given amniocentesis, which involved karyotype analysis and CMA to detect chromosomal abnormalities. The other 34 cases only underwent CMA detection using fetal abortive tissue. In this study, we identified five cases of chromosome aneuploid and nine cases of pCNVs in the fetuses, with a chromosomal aberration detection rate of 24.56% (14/57). In the 23 cases that were given both karyotype and CMA analysis, one case with trisomy 18 was detected by karyotyping. Moreover, CMA revealed a further three cases of pCNVs, including the 1p36.33p36.31, 7q11.23, and 1q21.1q21.2 microdeletions, with a 13.04% (3/23) increase in CMA yield over the karyotype analysis. Additionally, three cases of trisomy 13, one case of trisomy 21, and six cases of pCNVs were detected in the other 34 fetuses where only CMA was performed. Furthermore, a higher chromosomal aberration detection rate was observed in the extra CNS anomaly group than in the isolated CNS anomaly group (40.91% vs 14.29%). In conclude, several pathogenic CNVs were identified in the fetuses with CNS anomalies using CMA. Among the detected CNVs, ZIC2, GNB1, and NSUN5 may be the candidate genes that responsible for fetal CNS anomalies. Our findings provides an additional reference for genetic counseling regarding fetal CNS anomalies and offers further insight into the genotype–phenotype relationship.

Congenital Anomalies in Yemeni Newborns: A Retrospective Study at a Tertiary Care Hospital in Sana’a City

Background: Congenital anomalies (CAs) are major causes of morbidity and mortality among newborns worldwide. Therefore, the present study aimed to determine the prevalence and types of CAs in Sana’a city, Yemen.
 Methods: This retrospective, cross-sectional study was conducted among newborns admitted to Al-Thawra Modern General Hospital in Sana’a from January to December 2017. Data were collected from 1100 medical records of newborns, besides data about their mothers, using a predesigned data collection sheet. Data were then analyzed, and the results were presented as frequencies and proportions.
 Results: Of 1100 newborns, 164 (14.9%; 95% confidence interval: 12.9–17.1) newborns had CAs. Of these, 74.4% had single-system CAs, and 25.6% had multiple-system CAs. Gastrointestinal tract anomalies (43.9%) were the most frequent CAs, followed by anomalies of the central nervous system (CNS) (18.9%), musculoskeletal system (17.1%), chromosomes (15.2%) and cardiovascular system (14%). However, orofacial anomalies of cleft lip and cleft palate (2.4%) were the least frequent CA, followed by urogenital anomalies (8.5%). Esophageal atresia (33.3%) and imperforated anus (25%) were the most frequent gastrointestinal CAs. On the other hand, meningocele (35.4%) was the most frequent CNS anomaly. Of musculoskeletal anomalies, limb defects were the most frequent (96.4%), while achondroplasia was observed among 3.6% of newborns with CAs. Congenital heart disease was the most frequent cardiovascular anomaly (95.7%), while dextrocardia was observed among 4.3% of newborns. Hypospadias (57.2%) was the most frequent urogenital anomaly, followed by ureteropelvic junction obstruction (21.5%). More than half of newborns with CAs died, while 35.4% of them were discharged from hospital without correction of CAs. On the other hand, CAs were corrected for 11.6% of newborns before discharge.
 Conclusion: The prevalence of CAs among Yemeni newborns is relatively high and can be observed in more than one in ten newborns. The majority of CAs usually affect a single system, most frequently affecting the gastrointestinal tract, followed by the CNS, musculoskeletal system, chromosomes and cardiovascular system. Half of newborns with CAs usually die in hospital before discharge. Therefore, it is necessary to educate parents and conduct regular antenatal screening by a pediatrician to detect these anomalies and manage them appropriately and in a timely manner.

Goldenhar syndrome: An ephialte for the anesthesiologist – What we saw was just the tip of the iceberg

Goldenhar syndrome, also called oculoauriculovertebral dysplasia, is characterized by craniofacial, central nervous system, cardiac, renal, and vertebral anomalies. It occurs due to the faulty unilateral development of vertebral arches. Patients presenting for surgery are usually in the pediatric age group. General anesthesia is the preferred mode of anesthesia considering the type of surgery, age of the patient, and vertebral anomaly in this patient group. The first and foremost consideration while anesthetizing these patients is the anticipated difficult airway. Frequently encountered airway abnormalities in these patients are micrognathia, retrognathia, mandibular dysplasia, craniovertebral anomalies leading to limited neck flexion and cervical spine instability, decreased thyromental distance, fascial asymmetry, cleft lip and palate, high arched palate, dental abnormalities, and temporomandibular joint abnormalities. Difficult airways often come disguised as syndromes, and thorough pre-operative evaluation along with preparation for the worst scenarios is a must. We have a myriad of alternative airway management equipment at our disposal. Adequate knowledge is a must for their best use.

Evaluation of Fetal Central Nervous System Anomalies Diagnosed Prenatally: Prenatal and Postnatal Outcomes

Evaluation of Fetal Central Nervous System Anomalies Diagnosed Prenatally: Prenatal and Postnatal Outcomes

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities. Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model. Thirty studies were included (n=1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%-36%; I2 =72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%-34%; I2 =74%]; (b) single CNS anomaly; 16% [95% CI 10%-23%; I2 =41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%-40%; I2 =56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%-57%; I2 =68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus. Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.

The effect of hypertension in pregnancy and central nervous system anomalies on fetal brain development

Objectives: The aim of this study was to investigate whether maternal hypertension affects fetal brain maturation, and to examine whether treatment with magnesium sulfate has a protective effect on the fetal brain. Methods: A total of 26 fetuses, including 11 dead fetuses of pregnant women who were found to have hypertension and whose pregnancy was terminated due to this reason, and 15 fetuses who did not have this risk factor but died for various reasons as the control group, were included in the study. Brain tissue samples were evaluated for the presence of morphological and histopathological changes, as well as apoptotic cells. The morphologies of the samples were examined in sections stained with hematoxylin-eosin (H&E), and apoptosis was examined with light microscopy by the terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) method. Results: In the control group, it was observed that the brain tissue had a morphological structure compatible with the development weeks. In the hypertension group, there were no bleeding foci and brain tissues mostly preserved morphological features similar to control patients. While edema was detected in 45.4% of the infants in the hypertension group, no edema was observed in 54.6%. In the hypertension group, Grade 1 necrosis was observed in 63.6% of the samples, Grade 2 necrosis was observed in 9.1%, and no necrosis was observed in 27.3% of the samples. Conclusions: Based on the findings of this study, it can be concluded that maternal hypertension increases neurological maturation by causing vasodilation in the fetal brain, increasing blood flow, and decreasing cell death.

Prenatal exome sequencing analysis in fetuses with central nervous system anomalies.

To evaluate the utility of prenatal exome sequencing (pES) in fetuses with central nervous system (CNS) abnormalities. This was a retrospective cohort study of fetuses identified to have CNS abnormality on prenatal ultrasound and/or magnetic resonance imaging. All fetuses were first analyzed by chromosomal microarray analysis (CMA). Fetuses with a confirmed aneuploidy or causal pathogenic copy-number variant (CNV) on CMA did not undergo pES analysis and were excluded, while those with a negative CMA result were offered pES testing. Of the 167 pregnancies included in the study, 42 (25.1%) were identified to have a pathogenic or likely pathogenic (P/LP) variant. The diagnostic rate was significantly higher in fetuses with a non-isolated CNS abnormality than in those with a single CNS abnormality (35.7% (20/56) vs 14.5% (8/55); P = 0.010). Moreover, when a fetus had three or more CNS abnormalities, the positive diagnostic rate increased to 42.9%. A total of 25/42 (59.5%) cases had de-novo mutations, while, in the remaining cases, mutations were inherited and carried a significant risk of recurrence. Families whose fetus carried a P/LP mutation were more likely to choose advanced pregnancy termination than those with a variant of uncertain significance, secondary/incidental finding or negative pES result (83.3% (25/30) vs 41.3% (38/92); P < 0.001). pES improved the identification of genetic disorders in fetuses with CNS anomalies without a chromosomal abnormality or CNV identified on CMA, regardless of the number of CNS anomalies and presence of extracranial abnormality. We also demonstrated that pES findings can significantly impact parental decision-making. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

A Newborn Spina Bifida Case Report

In North America, over seventy thousand cases of disability are attributed to central nervous system anomalies, with the majority of these cases resulting from neural tube defects. Among these defects, meningomyelocele is the most commonly observed condition. Meningomyelocele is characterized by the protrusion of spinal structures outside the skin, leading to deficits in motor function of the lower limbs and challenges related to urinary and fecal elimination. The severity of these clinical symptoms can vary depending on the location of the defect along the neural tube.&#x0D; The root cause of meningomyelocele is associated with the incomplete closure of the neural tube during fetal development. In our specific case, the diagnosis of spina bifida was made prenatally by the perinatology clinic, and the family received comprehensive information about the condition well before the delivery. Despite being informed, the family made the decision to proceed with the birth, and necessary arrangements were made to support this choice. Following the delivery, the newborn underwent an examination confirming the presence of spina bifida, in line with the previous ultrasound diagnosis.

The Prevalence and Pattern of Congenital Anomalies Among Neonates Admitted in a Tertiary Care Hospital in the Andaman and Nicobar Islands: A Retrospective Study.

Introduction Congenital anomalies (CAs) constitute a significant determinant of neonatal mortality in India, and past studies have elucidated their diverse clinical presentations across different geographic regions. Given the limited availability of region-specific data in our locale, this study was initiated to elucidate the prevalence and phenotypic manifestations of congenital anomalies in live births within the distinctive setting of the Andaman and Nicobar Islands, India. Methods This retrospective observational study was conducted at the Department of Pediatrics of the Andaman and Nicobar Islands Institute of Medical Sciences (ANIIMS), located in Port Blair, during a defined one-year period extending from June 2022 to May 2023. All live births presenting with congenital anomalies within this stipulated timeframe were systematically enrolled in the study, and data was meticulously extracted from their respective medical records. The study data was methodically collated and organized utilizing the EpiData software (EpiData Association, Odense, Denmark), followed by a comprehensive descriptive analysis executed through the application of the PSPP software (GNU Project, Boston, MA). Results Among the 1661 neonates admitted during the study's defined period, a total of 61 neonates (3.7%) were identified as having congenital anomalies. Among these anomalies, cardiovascular anomalies were found to be the most prevalent, succeeded by gastrointestinal and central nervous systemanomalies. Notably, major congenital anomalies were discerned in 20 out of 61 neonates, constituting approximately 33% of the neonatal population with anomalies. Neonates afflicted with congenital anomalies displayed a mortality rate of 11.5%. Conclusion The effects of congenital anomalies on individuals, families, and the society are far-reaching. Early identification and timely referraland intervention are the key factors in decreasing the mortality and morbidity associated with congenital anomalies.

Three-Year Post-Neonatal Intensive Care Unit Health Care Utilization Among Infants with Congenital Anomalies

ObjectiveTo describe three-year post-NICU healthcare utilization among children with congenital anomalies discharged home from a level IV NICU Study DesignRetrospective chart review of children with congenital anomalies enrolled in a prior prospective cohort study from 2016-2020. We assessed hospital readmission rate, number of surgeries, and durable medical equipment (DME) use by type of anomaly. ResultsAmong 166 infants enrolled in the original study, 158 survived to NICU discharge. One-third of the cohort had a genetic anomaly. Six out of 158 patients (4%) died before age three. More than half the children were readmitted within the first two years of life and a third were readmitted in the third year of life. Readmissions were highest for those with multiple, musculoskeletal (MSK), and central nervous system (CNS) anomalies, and lowest for abdominal wall defects. About half the children underwent surgeries and this proportion remained constant over the 3-year time. Sixty-two percent of patients received DME at discharge, with gastrostomy tubes (G-tubes) being the most common. G-tubes were still present in 75% of the patients at three years of age. ConclusionChildren with congenital anomalies are at risk for increased healthcare utilization during early childhood. Those with multiple anomalies, a genetic syndrome, MSK, and CNS anomalies and those discharged with DME are at highest risk while those with abdominal wall defects are at lowest risk. Provider awareness, high-quality discharge training, parent psychological support, greater assimilation of families in the NICU, and telehealth may be some strategies to better support these families.