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BMJ Open May 2024To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube...
OBJECTIVE
To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube defects during Pradhan Mantri Surakshit Matritva Abhiyan sessions.
DESIGN
A population-based cross-sectional study with a household survey for neural tube defects using pictorial card as well as a hospital-based study for antenatal ultrasonography data.
SETTING
The sample population was selected through multistage random sampling. In the first stage, one district from each zone was selected randomly. In the second stage, using simple random sampling, one community health centre and one urban primary health centre were selected from each district. In the third stage, the population from a block and ward were picked from the selected rural and urban settings, respectively.
PARTICIPANTS
All married women in the reproductive age group (18-49 years) residing in these cluster villages in the selected districts were enrolled.
RESULTS
The study surveyed 49 215 women and recorded 50 196 birth outcomes, including 49 174 live births, 890 stillbirths and 132 medical terminations of pregnancy. A total of 30 neural tube defect cases were detected. The overall prevalence rate of neural tube defect was 0.59 per 1000 birth outcomes. Spina bifida was the most prevalent neural tube defect with the prevalence of, followed by anencephaly and encephalocele. Despite 26 860 mothers receiving antenatal ultrasonography Pradhan Mantri Surakshit Matritva Abhiyan session, data on neural tube defects and other birth defects detected through these scans is unavailable.
CONCLUSION
This study found a low prevalence of neural tube defect in Odisha, which is far lower compared with the older studies from India. There is an urgent need to strengthen the quality of antenatal care services provided under Pradhan Mantri Surakshit Matritva Abhiyan through better training regarding anomaly scans and better data keeping at public healthcare facilities.
TRIAL REGISTRATION NUMBER
CTRI/2021/06/034487.
Topics: Humans; Cross-Sectional Studies; Female; India; Pregnancy; Adult; Neural Tube Defects; Prevalence; Young Adult; Adolescent; Middle Aged; Ultrasonography, Prenatal; Anencephaly; Encephalocele; Spinal Dysraphism
PubMed: 38760039
DOI: 10.1136/bmjopen-2023-083057 -
Acta Medica Philippina 2024We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a...
We report the case of a 33-week-old female fetus born with craniorachischisis to a gravida 5, para 4 (3104) mother with no previous history of conceiving a child with a neural tube defect. Craniorachischisis is characterized by anencephaly and an open defect extending from the brain to the spine and is the most severe and fatal type of neural tube defect. Although the cause of neural tube defects is hypothesized to be multifactorial and is usually sporadic, the risk is increased in neonates born to mothers with a family history or a previous pregnancy with neural tube defect, both of which are not present in the index case. This case is unique in that only during the fifth pregnancy did the couple conceive a child with a neural tube defect, emphasizing that folic acid supplementation, the sole preventive measure proven to decrease the risk of neural tube defects, remains to be important in the periconceptual period for all women of childbearing age.
PubMed: 38846167
DOI: 10.47895/amp.vi0.6712 -
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 -
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 -
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 -
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 -
Annals of Medicine and Surgery (2012) Jan 2024Neural tube defect occurs as a result of failure of spontaneous closure of the neural tube between the third and fourth weeks of foetal life. Exencephaly is a rare...
INTRODUCTION AND IMPORTANCE
Neural tube defect occurs as a result of failure of spontaneous closure of the neural tube between the third and fourth weeks of foetal life. Exencephaly is a rare malformation of the neural tube characterized by a large amount of protruding brain tissue in the absence of the calvarium.
CASE PRESENTATION
The authors report a 29-year-old female, non-compliant to iron, calcium and folic acid tablets due to nauseating and itchy sensation after intake for 2 weeks, was admitted in ward Obstetrics ward in view of twin pregnancy. After proper counselling, she was advised for caesarean section, which revealed gross malformation in the form of cleft lip, cleft palate and exposed brain tissue covered by thin layer of membrane with incompletely formed cranial vault and multiple-haematoma and ulcerations in the exposed brain tissue suggestive of Exencephaly. The deformed baby survived for 2 days after birth while the other baby was grossly healthy.
CLINICAL DISCUSSION
Exencephaly is said to be the embryological precursor anomaly of anencephaly. Exencephaly is a type of cranial malformation that characteristically involves a large disorganized mass of brain tissue. The flat bones of calvaria are absent and the brain mass is left uncovered. This condition is incompatible with life.
CONCLUSION
Each and every pregnant lady must be advised to undergo ultrasonography in every trimester, especially second trimester scan (anomaly scan) to diagnose any gross congenital malformations. Each pregnant lady is suggested to take the necessary vitamins (like folic acid) to avoid any Neural tube defects.
PubMed: 38222692
DOI: 10.1097/MS9.0000000000001589 -
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 -
Radiology Case Reports Jul 2024Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet...
Multiple pregnancies are infrequently encountered, with the incidence of spontaneous triplet pregnancies estimated at approximately 1 in 7000 pregnancies. Triplet gestations are recognized for their propensity to bring about a spectrum of pregnancy related complexities, encompassing fetal structural abnormalities, neurological anomalies, disturbances in amniotic fluid levels, preterm labor, and suboptimal neonatal outcomes. Anencephaly is a serious congenital defect where the brain and skull do not fully develop, often leading to a poor prognosis. It's a preventable neural tube defect (NTD) with timely intake of folic acid, is caused by the incomplete closure of the neural tube during fetal development, resulting in the absence of the cerebrum (responsible for thinking and coordination) and the front part of the brain (forebrain) in affected infants. While anencephaly in a triplet is scarcely reported, spontaneous reabsorption of an anencephalic fetus in utero is a rare and unexpected event, with no documented cases in triplet pregnancies until now. We report a case of anencephaly in a triplet pregnancy where the mother presented late during her third trimester, the reabsorption of the anencephalic fetus in utero is an unprecedented event, highlighting the unique nature of this triplet pregnancy.
PubMed: 38689815
DOI: 10.1016/j.radcr.2024.03.063