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BMC Women's Health Dec 2023Neural tube defects (NTDs) are severe birth defects caused by nutritional, genetic or environmental factors. Because NTDs continue to have a significant health and...
INTRODUCTION
Neural tube defects (NTDs) are severe birth defects caused by nutritional, genetic or environmental factors. Because NTDs continue to have a significant health and economic impact on children and community at large, it is crucial to investigate potential risk factors in order to develop novel approaches to NTDs prevention. Determinants for the development of NTDs differ by country, region as well as within the country. The objective of this study was to identify the determinants of NTDs among newborns delivered in three hospitals found in eastern Ethiopia.
METHODS
A hospital-based matched case-control study was conducted among 138 cases and 138 control women who delivered in three teaching hospitals in Eastern Ethiopia in 2021. Data were collected using a structured and pre-tested interviewer-administered questionnaire. Cases were mothers who delivered a neonate with any type of NTDs regardless of gestational age or fetal viability, whereas controls were mothers who delivered an apparently healthy newborn. Chi-square was used to assess the significant difference between the two groups. Conditional logistic regression model was used to generate adjusted odds ratio with its corresponding 95% confidence intervals and compare the two groups.
RESULTS
Anencephaly (51.4%) and spinal bifida (34.1%) were the most frequently observed NTDs. None of study participants took preconception folic acid supplementation. Being a non-formal mothers (AOR = 0.34, 95% CI: 0.12-0.92, P = 0.034), rural residence, (AOR = 3.4, 95% CI: 1.18-9.78, P = 0.023), history of spontaneous abortion (AOR = 2.95, 95% CI: 1.15-7.55, P = 0.023), having severe anemia (AOR = 3.4, 95% CI: 1.17-9.87, P = 0.024), history of fever or cold (AOR = 2.75; 95% CI: 1.05-7.15, P = 0.038), and an exposure to various agro-chemicals (AOR = 3.39, 95% CI: 1.11-10.3, P = 0.032) were independent determinants of NTDs.
CONCLUSION AND RECOMMENDATION
In this study, NTDs were associated to several determinant factors in the area, including residential area, history of spontaneous abortion, severe anemia, fever/cold, antibiotic use before or during early pregnancy, and exposure to agrochemicals. Addressing the identified determinants is critical in averting the incidence of NTDs in the study area. Moreover, more research is needed to investigate women's dietary practices as well as the practice of preconception folic acid supplementation for pregnant women in Ethiopia's current health care system.
Topics: Child; Female; Humans; Infant, Newborn; Pregnancy; Case-Control Studies; Abortion, Spontaneous; Ethiopia; Neural Tube Defects; Folic Acid; Hospitals; Anemia
PubMed: 38071290
DOI: 10.1186/s12905-023-02796-0 -
Radiology Case Reports Jan 2024We report a case of acalvaria diagnosed prenatally via ultrasound and MRI. Acalvaria is a rare, fatal congenital condition characterized by the absence of flat bones of...
We report a case of acalvaria diagnosed prenatally via ultrasound and MRI. Acalvaria is a rare, fatal congenital condition characterized by the absence of flat bones of the cranial vault, dura mater, and its associated muscles with an intact central nervous system. A 41-year-old gravida 5, para 2 + 2A, presented to us at 26 weeks gestation age (GA) with ultrasound findings of a fragile and hypomineralized skull in the fetus. The patient was not keen on whole-axon sequencing. Fetus magnetic resonance imaging (MRI) revealed large cutaneous/skull nonvisualization of the fetus skull, possibly acrania without anencephaly. She delivered via cesarean section at 37 weeks because of two previous cesarean sections. A female infant weighing 2650 g was born with an intact sac to minimize excessive external pressure to the brain tissue. A diagnosis of acalvaria with bilateral lateral cleft lip and palate was made postdelivery. The infant was managed conservatively per multidisciplinary discussion and expired 3 weeks later.
PubMed: 38033668
DOI: 10.1016/j.radcr.2023.10.036 -
BMJ Open Nov 2023This study aims to estimate the prevalence of neural tube defects (NTDs) and to identify potential risk factors in the Ethiopian context. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This study aims to estimate the prevalence of neural tube defects (NTDs) and to identify potential risk factors in the Ethiopian context.
STUDY DESIGN
Systematic review and meta-analysis.
STUDY PARTICIPANTS
A total of 611 064 participants were included in the review obtained from 42 studies.
METHODS
PubMed (Medline), Embase and Cochrane Library databases in combination with other potential sources of literature were systematically searched, whereby studies conducted between January 2010 and December 2022 were targeted in the review process. All observational studies were included and heterogeneity between studies was verified using Cochrane Q test statistics and I test statistics. Small study effects were checked using Egger's statistical test at a 5% significance level.
RESULT
The pooled prevalence of all NTDs per 10 000 births in Ethiopia was 71.48 (95% CI 57.80 to 86.58). The between-study heterogeneity was high (I= 97.49%, p<0.0001). Birth prevalence of spina bifida (33.99 per 10 000) was higher than anencephaly (23.70 per 10 000), and encephalocele (4.22 per 10 000). Unbooked antenatal care (AOR 2.26, 95% CI (1.30 to 3.94)), preconception intake of folic acid (AOR 0.41, 95% CI (0.26 to 0.66)), having chronic medical illness (AOR 2.06, 95% CI (1.42 to 2.99)), drinking alcohol (AOR 2.70, 95% CI (1.89 to 3.85)), smoking cigarette (AOR 2.49, 95% CI (1.51 to 4.11)), chewing khat (AOR 3.30, 95% CI (1.88 to 5.80)), exposure to pesticides (AOR 3.87, 95% CI (2.63 to 5.71)), maternal age ≥35 (AOR 1.90, 95% CI (1.13 to 3.25)), maternal low educational status (AOR 1.60, 95% CI (1.13 to 2.24)), residing in urban areas (AOR 0.75, 95% CI (0.58 to 0.97))and family history of NTDs (AOR 2.51, 95% CI (1.36 to 4.62)) were associated with NTD cases.
CONCLUSION
The prevalence of NTDs in Ethiopia is seven times as high as in other Western countries where prevention measures are put in place. Heredity, maternal and environmental factors are associated with a high prevalence of NTDs. Mandatory fortification of staple food with folic acid should be taken as a priority intervention to curb the burden of NTDs. To smoothen and overlook the pace of implementation of mass fortification, screening, and monitoring surveillance systems should be in place along with awareness-raising measures.
PROSPERO REGISTRATION NUMBER
CRD42023413490.
Topics: Female; Pregnancy; Humans; Prevalence; Ethiopia; Neural Tube Defects; Folic Acid; Risk Factors; Food, Fortified
PubMed: 37940152
DOI: 10.1136/bmjopen-2023-077685 -
Annals of Medicine and Surgery (2012) Nov 2023Acalvaria is a rare congenital malformation in which the flat bones of the cranial vault, dura mater, and associated muscles are absent while the central nervous system...
INTRODUCTION AND IMPORTANCE
Acalvaria is a rare congenital malformation in which the flat bones of the cranial vault, dura mater, and associated muscles are absent while the central nervous system usually remains unaffected. It is an extremely rare congenital anomaly with only a handful of cases being reported in literature.
CASE PRESENTATION
The authors report a case of a 2-month-old male infant with acalvaria who was delivered at home and brought to our centre with the complaint of an abnormally soft skull. He was evaluated in a primary centre in rural Nepal. Parietal bones were missing bilaterally but no other abnormalities were found during the physical examination and investigations. Major differential diagnoses like anencephaly, cephalocele, osteogenesis imperfecta type II, and hypophosphatasia were ruled out with the help of history, physical examination, and available investigations and the case was diagnosed as acalvaria.
CLINICAL DISCUSSION
Acalvaria is a post-neurulation defect which is associated with anomalies of various organ systems. Radiological diagnosis, with supportive laboratory investigations, is the most reliable method of antenatal diagnosis.
CONCLUSION
Acalvaria is known to have a dismal prognosis and all the living cases with long-term follow-up are mentally retarded and physically disabled. Early and reliable antenatal diagnosis can reduce the economic, physical, and psychological burden associated with this fatal disease, especially in low-income countries.
PubMed: 37915700
DOI: 10.1097/MS9.0000000000001339 -
Archives of Disease in Childhood Jan 2024To determine the baseline trends in the total birth prevalence of neural tube defects (NTDs) in England (2000-2019) to enable the impact of folic acid fortification of... (Observational Study)
Observational Study
OBJECTIVES
To determine the baseline trends in the total birth prevalence of neural tube defects (NTDs) in England (2000-2019) to enable the impact of folic acid fortification of non-wholemeal wheat flour to be monitored.
DESIGN
Population-based, observational study using congenital anomaly (CA) registration data for England curated by the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).
SETTING
Regions of England with active registration in the time period.
PARTICIPANTS
Babies that were liveborn or stillborn and pregnancies that resulted in a termination of pregnancy or a late miscarriage (20-23 weeks' gestation) with an NTD.
MAIN OUTCOME MEASURES
Total birth prevalence of anencephaly, spina bifida and all NTDs in England. Poisson regression analysis was used to evaluate time trends with regional register as a random effect. The progress of national registration across England was assessed.
RESULTS
There were 4541 NTD pregnancies out of 3 637 842 births in England; 1982 anencephaly and 2127 spina bifida. NTD prevalence was 12.5 (95% CI 12.1 to 12.9) per 10 000 total births. NTD prevalence per 10 000 total births was significantly higher in 2015-2019 (13.6, 95% CI 12.9 to 14.4) compared with 2010-2014 (12.1, 95% CI 11.7 to 12.5). An increasing trend in NTDs overall was detected (incidence rate ratio (IRR) 1.01, 1.00 to 1.02), although further analysis determined this effect was confined to 2015-2019 (compared against 2000-2004, IRR 1.14, 1.04 to 1.24). The birth prevalence of anencephaly reflected this pattern. The prevalence of spina bifida remained relatively stable over time.
CONCLUSIONS
Baseline NTD prevalence for England has been established. National and standardised CA registration is in place, facilitating the systematic and consistent monitoring of pre-fortification and post-fortification NTD trends and evaluating the impact of fortification on NTD prevalence.
Topics: Pregnancy; Female; Humans; Folic Acid; Flour; Prevalence; Anencephaly; Cohort Studies; Triticum; Food, Fortified; Neural Tube Defects; Spinal Dysraphism
PubMed: 37875332
DOI: 10.1136/archdischild-2023-325856 -
Cureus Oct 2023Fetal ventriculomegaly, the most commonly identified abnormality of the fetal central nervous system (CNS), has been associated with elevated levels of the modified...
INTRODUCTION
Fetal ventriculomegaly, the most commonly identified abnormality of the fetal central nervous system (CNS), has been associated with elevated levels of the modified myocardial performance index (mMPI). However, the impact of other CNS pathologies on mMPI has not yet been evaluated. This study aimed to investigate whether there were changes in the myocardial performance index of fetuses with CNS pathologies without congenital heart diseases.
METHODS
A total of 126 singleton pregnant women were included in this study. Sixty-three fetuses had fetal CNS abnormalities of acrania, anencephaly, encephalocele, Dandy-Walker malformation, hydrocephalus, and meningocele. The control group consisted of 63 healthy and gestational age-matched fetuses. All ultrasonographic examinations were done in the second trimester of gestation. The data related to the characteristics of pregnant women were evaluated, and fetal left ventricular mMPI was obtained by ultrasound scan.
RESULTS
The study and the control group participants were not significantly different by means of pregnancy characteristics. The mean mMPI was higher in the fetal CNS malformation group compared to the control groups (0.39±0.02 vs. 0.45±0.04, P<0.001). The mean mMPI value was similar for fetuses with both closed and open calvarium defects of fetal CNS malformation.
CONCLUSION
Fetal CNS anomalies may be associated with prenatal cardiac dysfunction. Moreover, this relationship might be independent of the type of fetal CNS malformation, whether a closed or open calvarium defect.
PubMed: 37859680
DOI: 10.7759/cureus.47287 -
BMC Medical Education Oct 2023Limited diagnostic capabilities, resources and health worker skills have deterred the advancement of birth defects surveillance systems in most low- and middle-income...
BACKGROUND
Limited diagnostic capabilities, resources and health worker skills have deterred the advancement of birth defects surveillance systems in most low- and middle-income countries (LMICs). Empowering health workers to identify and diagnose major external birth defects (BDs) is crucial to establishing effective hospital-based BD surveillance. Makerere University-Johns Hopkins University (MU-JHU) Research Collaboration BD Surveillance System consists of three diagnostic levels: (1) surveillance midwives, (2) MU-JHU clinical team, and (3) U.S. Centers for Disease Control and Prevention (CDC) birth defects subject matter experts (SMEs) who provide confirmatory diagnosis. The diagnostic concordance of major external BDs by surveillance midwives or MU-JHU clinical team with CDC birth defects SMEs were estimated.
METHODS
Study staff went through a series of trainings, including birth defects identification and confirmation, before surveillance activities were implemented. To assess the diagnostic concordance, we analyzed surveillance data from 2015 to 2021 for major external BDs: anencephaly, iniencephaly, encephalocele, spina bifida, craniorachischisis, microcephaly, anophthalmia/microphthalmia, anotia/microtia, cleft palate alone, cleft lip alone, cleft lip with cleft palate, imperforate anus, hypospadias, talipes equinovarus, limb reduction, gastroschisis, and omphalocele. Positive predictive value (PPV) as the proportion of BDs diagnosed by surveillance midwives or MU-JHU clinical team that were confirmed by CDC birth defects SMEs was computed. PPVs between 2015 and 2018 and 2019-2021 were compared to assess the accuracy of case diagnosis over time.
RESULTS
Of the 204,332 infants examined during 2015-2021, 870 infants had a BD. Among the 1,245 BDs identified, 1,232 (99.0%) were confirmed by CDC birth defects SMEs. For surveillance midwives, PPV for 7 of 17 BDs was > 80%. For the MU-JHU clinical team, PPV for 13 of 17 BDs was > 80%. Among surveillance midwives, PPV improved significantly from 2015 to 2018 to 2019-2021, for microcephaly (+ 50.0%), cleft lip with cleft palate (+ 17.0%), imperforate anus (+ 30.0%), and talipes equinovarus (+ 10.8%). Improvements in PPV were also observed among MU-JHU clinical team; however, none were significant.
CONCLUSION
The diagnostic accuracy of the midwives and clinical team increased, highlighting that BD surveillance, by front-line health care workers (midwives) in LMICs is possible when midwives receive comprehensive training, technical support, funding and continuous professional development.
Topics: Male; Humans; Cleft Palate; Cleft Lip; Clubfoot; Anus, Imperforate; Microcephaly; Uganda; Hospitals
PubMed: 37833686
DOI: 10.1186/s12909-023-04760-w -
Journal of Korean Medical Science Oct 2023In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term...
BACKGROUND
In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies.
METHODS
Korean National Health Insurance claim data were obtained for neonates born in 2013-2014 and admitted within one-year-old. Sixty-seven major congenital anomalies were defined by medical diagnoses classified by International Classification of Diseases-10 codes according to the EUROCAT definition version 2014. Mortality and surgery were defined if any death or surgery claim code was confirmed until 2020. Poisson distribution was used to calculate the 95% confidence interval of the congenital anomaly prevalence.
RESULTS
The total prevalence of the 67 major anomalies was 433.5/10,000 livebirths. When compared with the prevalence of each major anomaly in EUROCAT, the prevalence of spina bifida, atrial septal defect (ASD), congenital megacolon, hip dislocation and/or dysplasia and skeletal dysplasia were more than five times higher in Korea. In contrast, the prevalence of aortic atresia/interrupted aortic arch and gastroschisis was less than one-fifth in Korea. The proportion of preterm births was 15.7%; however, more than 40% of infants with anencephaly, annular pancreas and gastroschisis were preterm infants. Additionally, 29.2% of the major anomalies were admitted to the neonatal intensive care units at birth, and 25.6% received surgical operation. The mortality rate was 1.7%, and 78.2% of the deaths occurred within the first year of life. However, in neonates with tricuspid valve atresia and stenosis, duodenal atresia or stenosis, and diaphragmatic hernia, more than half died within their first month of life. ASD and ventricular septal defect were the most common anomalies, and trisomy 18 and hypoplastic left heart syndrome were the most fatal anomalies. All infants with aortic atresia/interrupted aortic arch and conjoined twins received surgery.
CONCLUSION
The proportion of surgeries, preterm births and mortality was high in infants with major congenital anomalies. The establishment of a national registry of congenital anomalies and systematic support by national medical policies are needed for infants with major congenital anomalies in Korea.
Topics: Infant; Female; Infant, Newborn; Humans; Child; Gastroschisis; Premature Birth; Constriction, Pathologic; Infant, Premature; Republic of Korea; Aortic Diseases; Congenital Abnormalities; Registries; Prevalence
PubMed: 37821084
DOI: 10.3346/jkms.2023.38.e304 -
Genes Aug 2023In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally...
In 1990, Gorlin et al. described four types of craniofacial duplications: (1) single mouth with duplication of the maxillary arch; (2) supernumerary mouth laterally placed with rudimentary segments; (3) single mouth with replication of the mandibular segments; and (4) true facial duplication, namely diprosopus. We describe a newborn born with wide-spaced eyes, a very broad nose, and two separate mouths. Workup revealed the absence of the corpus callosum and the presence of a brain midline lipoma, wide sutures, and a Chiari I malformation with cerebellar herniation. We conducted a systematic review of the literature and compared all the cases described as diprosopus. In 96% of these, the central nervous system is affected, with anencephaly being the most commonly associated abnormality. Other associated anomalies include cardiac malformations (86%), cleft palate (63%), diaphragmatic hernia (13%), and disorder of sex development (DSD) (13%). Although the facial features are those that first strike the eye, the almost obligate presence of cerebral malformations suggests a disruptive event in the cephalic pole of the forming embryo. No major monogenic contribution has been recognized today for this type of malformation.
Topics: Infant, Newborn; Humans; Cleft Palate; Face; Brain; Central Nervous System
PubMed: 37761885
DOI: 10.3390/genes14091745