Risk factors associated with congenital central nervous system abnormalities in the National Hospital of Zinder, Niger.

INTRODUCTION: Congenital malformations of the central nervous system (CNS) are morphological abnormalities of the brain and spinal cord that occur during fetal development. They constitute the second most common congenital disability, after congenital cardiac defects. Many risk factors have been identified; however, these studies included various types of congenital abnormality. Furthermore, there is a lack of information on risk factors for congenital CNS malformation, and notably in the Zinder region of Niger. OBJECTIVE: This study aimed to identify the risk factors associated with congenital CNS malformations in the Zinder region. METHODS: In a case-control design, patients with congenital CNS malformation were enrolled between June 2022 and April 2023 in the Department of Neurosurgery of the National Hospital of Zinder. RESULTS: Family history of malformation (aOR:3.31, 95% CI:1.25-8.78) and consanguine marriage (aOR:2.28, 95% CI:1.23-4.20) were significantly associated with congenital CNS malformation. In contrast, folic acid supplementation (aOR:0.34, 95% CI:0.13, 0.89), multiparity (aOR:0.34, 95% CI:0.13, 0.89), and grand multiparity (aOR, 0.47; 95% CI:0.23, 0.97) had a protective effect. CONCLUSION: Risk factors such as family malformation history and consanguine marriage increased the risk of developing congenital malformations of the central nervous system. In contrast, folic acid supplementation in the index period and multiparity had a significant protective effect.

Epidemiology of congenital anomalies of the central nervous system in children in Enugu, Nigeria: A retrospective study.

BACKGROUND: Congenital anomalies, including those of the central nervous system (CNS), are among the leading causes of morbidity, mortality, and fetal loss. OBJECTIVE: To determine the prevalence and associated factors of CNS congenital anomalies in children. METHODS: A cross-sectional retrospective study of children managed with CNS anomalies was undertaken. Relevant clinical data of identified cases based on standard case definitions were retrieved from their case record files. Data were analyzed using SPSS 20.0 while the level of statistical significance was set at P < 0.05. RESULTS: Seventy-two cases of CNS anomalies were identified over the period under review; out of 7329 total pediatric admissions giving a prevalence of 0.98%. Spina bifida cystica, 49 (68.0%) was the most common of the five anomalies seen followed by congenital hydrocephalus 11 (15.3%). Fifty-seven (79.2%) of the mothers did not take periconceptional folic acid supplementation (P < 0.05) whereas 25 (34.7%), 6 (8.3%), and 1 (1.4%) reported history of febrile illness in the first trimester of pregnancy, alcohol use, and diabetes mellitus in pregnancy, respectively. Majority of the cases of spina bifida cystica (30 [61.2%]) seen had corrective surgeries while the overall case fatality rate was 1 (1.4%). CONCLUSIONS: Spina bifida cystica was the most common anomaly of the CNS seen in this study and majority of the mothers of affected children did not take periconceptional folic acid supplementation (P < 0.05). Efforts should be made to create awareness and apply adequate preventive health education models including the use of periconceptional folic acid supplementation as well as the provision of access to standard prenatal care to at risk mothers.

Midline Brain Abnormalities Across Psychotic and Mood Disorders.

Patients with schizophrenia are known to have increased prevalence of abnormalities in midline brain structures, such as a failure of the septum pellucidum to fuse (cavum septum pellucidum) and the absence of the adhesio interthalamica. This is the first study to investigate the prevalence of these abnormalities across a large multidiagnostic sample. Presence of cavum septum pellucidum and absence of the adhesio interthalamica was assessed in 639 patients with chronic schizophrenia, delusional disorder, schizoaffective disorder, bipolar disorder, major depressive disorder, or a first episode of psychosis, mania or unipolar depression. This was compared with 223 healthy controls using logistic-regression-derived odds ratios (OR). Patients with psychotic or mood disorders showed an increased prevalence of both abnormalities (OR of cavum septum pellucidum = 2.1, OR of absence of the adhesio interthalamica = 2.6, OR of both cavum septum pellucidum and absence of the adhesio interthalamica = 3.8, all P < .001). This increased prevalence was separately observed in nearly all disorders as well as after controlling for potential confounding factors. This study supports a general increased prevalence of midline brain abnormalities across mood and psychotic disorders. This nonspecificity may suggest that these disorders share a common neurodevelopmental etiology.

Pattern and factors associated with congenital anomalies among young infants admitted at Bugando medical centre, Mwanza, Tanzania.

BACKGROUND: Congenital anomalies or birth defects are among the leading causes of infant mortality and morbidity around the world. The impact of congenital anomalies is particularly severe in middle- and low-income countries where health care resources are limited. The prevalence of congenital anomalies varies in different parts of the world, which could reflect different aetiological factors in different geographical regions. METHODS: Between October 2012 and January 2013, a cross-sectional study was conducted involving young infants below 2 months of age, admitted at a university teaching hospital in Tanzania. Face-to-face interviews with parents/caretakers of young infants were carried out to collect socio-demographic and clinical information. Physical examinations were performed on all young infants. Echocardiography, X-ray, cranial as well as abdominal ultrasonographies were performed when indicated. RESULTS: Analysis of the data showed that among 445 young infants enrolled in the study, the prevalence of congenital anomalies was 29%, with the Central Nervous System (CNS) as the most commonly affected organ system. Maternal factors that were significantly associated with congenital anomalies included the lack of peri-conceptional use of folic acid (OR = 3.1; 95% CI = 1.4-6.7; p = 0.005), a maternal age of above 35 years (OR = 2.2; 95% CI = 1.1-4.3; p = 0.024) and an inadequate attendance to antenatal clinic (OR = 2.1; 95% CI = 1.4-3.3; p < 0.001). Infant factors that were significantly associated with congenital anomalies were female sex, a birth weight of 2.5 kg or more, singleton pregnancy and a birth order above 4. CONCLUSIONS: Due to the high prevalence of congenital anomalies observed in this particular context, the hospital should mobilize additional resources for an optimal and timely management of the patients with congenital anomalies. In this study, the proportion of women taking folic acid supplements during early pregnancy was very low. Efforts should be made to ensure that more women use folic acid during the peri-conceptional period, as the use of folic acid supplement has been linked by several authors to a reduced occurrence of some congenital anomalies.

Annual trends in use of periconceptional folic acid and birth prevalence of major congenital malformations.

BACKGROUND: Recent evidence suggests that periconceptional folic acid use could not only prevent neural tube defects but also other malformations. The objectives of this study were to assess trends in dispensed high dose periconceptional folic acid (5 mg) and birth prevalence of major congenital malformations. METHODS: The Quebec Pregnancy Registry, an administrative database with information on periconceptional prescribed medication and diagnostic codes was used to conduct this study. All pregnant women insured by the Quebec public drug plan between January 1(st) 1998 and December 31(st) 2008 were included. The exposure was defined as the use of high dose periconceptional folic acid 30 days before, and during the first 70 days of pregnancy. The outcome measured was the birth prevalence of major congenital malformations among live births. RESULTS: We identified 152,392 pregnancies and babies. The annual prevalence of high dose periconceptional folic acid use increased from 0.17% to 0.80% (p<0.05) during the study period; birth prevalence of congenital malformations increased by 15% (3.35% to 3.87%, p<0.05). More specifically, a 23% increase in the prevalence of cardiac malformation and 23% increase in musculoskeletal defects were observed, whereas there was no change in the prevalence of malformations of the nervous system. CONCLUSIONS: Although there was an increase in the use of periconceptional high dose folic acid over the past decade, there was no decrease in the prevalence of major congenital malformations. A limitation of this study is the absence of data on low dose folic acid use, available over the counter, in our administrative database.

Polymorphisms in folate-metabolizing genes and risk of having an offspring with congenital anomalies in the West Siberian region of Russia: a case-control study.

OBJECTIVE: Periconceptional folate supplementation prevents a number of congenital anomalies (CA). The aim of our study was to investigate the association of 11 polymorphisms in the folate-metabolizing genes with the risk of having an offspring with CA in the Russian ethnic group. METHOD: We genotyped 280 mothers having a CA-affected pregnancy and 390 control mothers. The most common malformations among the cases were CA of the nervous, urinary, and cardiovascular systems, and these groups were analyzed separately. RESULTS: In the whole group of CA, we revealed the associations of MTHFR C677T and MTR A2756G loci with increased risk of CA-affected pregnancy. In the group of CA of the cardiovascular system, we observed an association of MTHFR A1298C with decreased risk and an association of MTR A2756G with increased risk of CA. After the Bonferroni correction, only the association between the genotype MTR 2756GG and the risk of having a fetus with CA of the cardiovascular system remained statistically significant (OR = 4.99, P = 0.03). CONCLUSION: These findings indicate that locus A2756G in the MTR gene may play a role in susceptibility to CA of the cardiovascular system in West Siberia, but further research is necessary to confirm the association.

Central nervous system congenital malformations in a developing country: issues and challenges against their prevention.

BACKGROUND: Little efforts are geared towards prevention of CNS anomalies in the developing countries. METHODS: A 1-year prospective cross-sectional analysis of the cases of CNS congenital anomalies seen in a Nigerian neurosurgical unit. This included both the children's and parents' sociodemographics, the profiles of the CNS anomalies, and the maternal obstetric health behaviors toward primary and/or secondary prevention of the anomalies. Statistical analysis was done with the Pearson's chi-square (or Fishers' exact) test. Level of significance set at P < 0.05. RESULTS: There were 54 cases of cranial and spinal gross CNS anomalies, including 32 neural tube defects; two thirds of the parents were low-income earners, and half had only basic education. Thirty percent of the pregnancies were unbooked; the mean gestational age (GA) at booking and commencement of obstetric micronutrient supplementation was 4.6 months. No case had periconceptional folic acid supplementation. Obstetric ultrasonography was performed late in pregnancy (mean GA 6 months), made positive diagnosis of CNS anomaly in only 14%, and was performed mainly in unsupervised private clinic settings in 98%. CONCLUSIONS: Little or no attention is currently paid to the prevention of CNS congenital anomalies in much of the low- and middle-income countries of the world. There is a great need to regulate the practice of obstetric ultrasonography in Nigeria. There is even a much greater, more fiercely urgent need to ensure periconceptional folic acid supplementation for all women of childbearing age through appropriate food fortification in these societies.

[Risk of recurrence in major craniospinal malformations between 1976 and 2005]. / A jelentosebb craniospinalis rendellenességek ismétlodési kockázatának alakulása 1976-2005 között.

INTRODUCTION: Craniospinal malformations are among the commonest developmental disorders. Due to its incidence the knowledge of the risk of recurrence is very important not only for the geneticist but also for the married couples. METHOD: In the period between January 1st, 1976 and December 31st, 2005, among the 75320 documented cases at the Genetic Counselling Units of the Departments of Obstetrics and Gynecology of the University of Debrecen and Semmelweis University Budapest, consultations were requested due to previous craniospinal malformations in the patients' history in 3030 cases (4.2%). This paper contains the most important informations about these cases of craniospinal malformations. The greatest risk of non-central nervous system developmental anomalies was associated with holoprosencephaly. RESULTS: In approximately two thirds of the cases (65.1%), the couples sought counselling because of malformation in a previous pregnancy. In these cases, the risk of recurrence was thought to be 5.2%, while in the case of two affected children this figure stood at 21.9%. When the risk of recurrence was analysed according to the various types, much lower figures (3.8%) were found for neural tube defects compared to other anomalies in this study. CONCLUSION: Analysing the values for the risk of recurrence in five-year periods, neural tube defects (particularly anencephaly and spina bifida) showed detectable decrease, which could be attributed to a widening use of folic acid supplementation around about the time of conception and during pregnancy.

Herbal medicines used during the first trimester and major congenital malformations: an analysis of data from a pregnancy cohort study.

BACKGROUND: Major congenital malformations place a considerable burden on the affected child, the family and society. Any kind of medicine used during pregnancy might have a harmful impact; therefore, such practice has raised concerns. The objective of the current study was to explore the relationship between the use of herbal medicines by pregnant women during the first trimester of pregnancy and the risk of major congenital malformation in their live born infants. METHODS: This was a cross-sectional analysis of data from a prospective pregnancy cohort, which was established between 1984 and 1987. To assemble the cohort, pregnant women of >or=26 weeks of gestation who came to the Taipei Municipal Maternal and Child Hospital in Taiwan for prenatal care were enrolled in the study and interviewed using a structured questionnaire. Detailed information, including herbal medicine use during different periods of pregnancy, was obtained during the interview. Past medical history, current obstetric data and details on conventional medicines used during pregnancy were abstracted from medical records. Data on birth weight, gestational duration and characteristics of live born infants were gathered from the Taiwan national birth register. Congenital malformation information was obtained from multiple sources: the newborn examination record (1984-7); the national death register (1984-2003); and Taiwan National Health Insurance data (1996-2000). Multiple logistic regression was used to estimate the odds ratio [OR] of major congenital malformation by herbal medicines used during the first trimester. RESULTS: A total of 14,551 live births were analysed. After adjustment for confounding factors, taking huanglian during the first trimester of pregnancy was found to be associated with increased risk of congenital malformations of the nervous system (adjusted OR 8.62, 95% CI 2.54, 29.24). An-Tai-Yin was associated with an increased risk of congenital malformations of the musculoskeletal and connective tissues (adjusted OR 1.61, 95% CI 1.10, 2.36) and the eye (adjusted OR 7.30, 95% CI 1.47, 36.18). CONCLUSION: We found evidence for a possible link between the use of specific herbal medicines during the first trimester of pregnancy and increased risks of specific groups of congenital malformations. We could not investigate whether the adverse effects were related to direct toxicity from the herbal medicines, or were from misuse, contamination or uncontrolled confounding. Nonetheless, we would advise caution regarding use of herbal medicines during pregnancy, and we suggest that further investigation of these findings is warranted.