Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases (original) (raw)
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Comprehensive Study of Neural Tube Defects in 1000 Foetuses with Clinical Spectrum
International Journal of Anatomy and Research, 2015
A variety of malformations are included under the description of Neural tube defects (NTDs). These are abnormalities of the embryonic neuralization process. The congenital malformations of human structure and are of great interest to anatomists, obstetricians, pediatricians and radiologists. NTDs are among the commonest and most severe disorders, affecting 0.5-2 per 1000 established pregnancies, and are second commonest group of birth defects, after congenital heart defects. A valuable contribution of this study, the neural tube defects aimed at clinical methods and refined for the prenatal diagnosis in utero. Materials and Methods: This comprehensive study was undertaken to know the incidence of detail knowledge of neural tube defects in KIMS Narketpally and KAMS & RC Hyderabad, among 1000 births during the period of two years. We found seven fetuses with neural tube defects involving brain and spinal cord. A detailed study was done emphasizing on embryology and genetic and non-genetic concepts. Results & Conclusion: The seven fetuses were stillbirths and aborted babies between 20 to 40 weeks, presented with neural tube defects (0.7%). Five fetuses were females and two fetuses were males. The spinal defects were 0.4%, cranial defects 0.2% and complete neural tube defects is 0.1%. This review article discusses the classification, clinical research and epidemiological understanding of NTDs and correlated with the available literatures.
The Fetal Study on Cranial and Spinal Dysraphism of Neural Tube
Neural tube defects (NTD) are more common congenital birth defect affecting the babies all over the world. .It is one of the causes of fetal mortality and morbidity .Defective neurulation process during embryonic period leads to this condition. Based on the level of neural tube involvement the defects are divided as cranial dysraphism and spinal dysraphism.Cranial dysraphism include lethal anencephaly ,encephalocele and iniencephaly .In spinal dysraphism ,failure in the fusion of caudal end of neural tube leads to meningocele and myelomeningocele.These conditions are associated with mesodermal involvement leading to bony defects .The present study was done on 50 human fetuses that were collected for development of museum in Anatomy.In this processmore number of fetuses with neural tube defects were identified. The fetuses were separated based on the level of neural tube involvement. In anencephaly,encephalocele and rare iniencephaly in which the cranial end of neural tube is involved and in meningocele and myelocele the caudal end neural tube is involved. All these fetuses were studied further. Manifestation of NTD is multifactorial that have genetic or environmental basis with high recurrence rate. Neural tube defects are usually diagnosed in early weeks of intrauterine life by ultrasound examination .In the various forms of neural tube defects,anencephaly is incompatible with life and depending on the level of exposure of neural tissue ,open spinal defects will survive with permanent disability.Folic acid is given as a supplement to prevent the neural tube defects and the role of folic acid in NTD's was studied by authors and they expressed that folic acid is important in nucleic acid formation and in the metabolic activity of enzymes. The deficiency of folic acid blocks all this process and leads to formation of neural tube defect. So pregnant woman with previous history of neural tube defect are advised to take folic acid before planning the pregnancy and continue for three months after conception to prevent the recurrence of neural tube defects..
Teratology, 1991
In the period 1980-1987, neural tube defects were two to three times more prevalent in populations covered by EUROCAT registries in the United Kingdom and Ireland (UKI) than in Continental Europe and Malta (CEM). 1864 NTD cases in a total population of 580,000 births in UKI and 455 cases in a population of 380,000 births in CEM were analysed to find if there were differences in the ratio of prevalence rates between UKI and CEM according to site of the defect and association with non-central nervous system (CNS) anomalies. The prevalence rate ratio was high for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida, and low for encephalocele, lower spina bifida, and anencephaly without other neural tube defects. There was a greater female excess for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida than for other defects in both geographic areas. There was a female excess for encephalocele in UKI but a male excess in CEM. Certain sites (anencephaly with accompanying spina bifida, iniencephaly, and encephalocele) were more likely to have accompanying non-CNS anomalies. The prevalence rate ratio of multiply malformed NTD was in general lower than for isolated NTD but showed the same pattern by site. The prevalence rate ratio was high for multiply malformed anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida. The sex ratio was similar between isolated and multiply malformed cases when site of the defect is taken into account. It is concluded that the geographic prevalence pattern and sex ratio differ according to site of NTD but do not differ substantially according to whether NTD is isolated or associated with non-CNS anomalies.
Introduction: Several congenital malformations affect developing fetuses, among which Neural tube defect (NTD) is most common. Folic acid supplementation brought decline in the incidence of NTDs. The present study aims at finding the incidence of NTDs in a tertiary care hospital and compares the results with the similar Indian studies published earlier. Materials and Methods: The study was done at Chettinad Hospital & Research Institute (CHRI), Kelambakkam. The total number of deliveries was recorded for a period of five years from 2009 to 2013. Fetuses which were still born with neural defect were collected and observed in detail externally for the sex, type of NTD and other associated anomalies. Indian studies published between 1987 and 2014 reporting the incidence of NTDs among the births occurred were retrieved from the Internet and their various observations were used for comparison. R esults: The number of deliveries conducted between 2009 and 2013 at CHRI was 3220. Of these, babies born with NTDs were nine (5 males and 4 females). The incidence of fetuses with meroanencephaly, holoanencephaly, craniorachischisis, encephalocele and myelocele were 0.62, 0.62, 0.93, 0.31 and 0.31 per 1000 births respectively. Overall incidence of NTDs in the present study was 2.79/1000 births. Fetuses with NTDs also had the following anomalies – Club foot, cleft lip and palate and exomphalos. C onclusion: Comparing the results with the previous studies it is clearly evident that the incidence of NTDs have significantly reduced from 11.42/1000 births to 2.79/1000 births. In most of the previous studies NTDs had a female preponderance whereas present study has a male preponderance.In older studies, spina bifida was the most common NTDs followed by anencephaly. But in the present study anencephaly was the common NTD than spina bifida. Incidence of NTDs has reduced due to various reasons like prenatal screening for fetal anomalies and folic acid supplementation.
Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey
Birth Defects Research, 2019
Background: Additional congenital anomalies have often been found in patients with neural tube defect (NTD). We aimed to find out the clinical features, short term prognosis, treatment approaches, and systemic anomalies of NTD patients in the Konya region. Method: A total of 186 newborn babies with NTD were retrospectively included in the study and all were assessed in detail for congenital anomalies and clinical features. Results: When the application month of the patients was examined, it was seen that the most frequent month was July. Of 186 babies, 101(54.3%) had meningomyelocele, 53 (28.5%) had meningocele, 13 (7.0%) had encephalocele, 16 (8.6%) had spina bifida occulta, and 4 (2.1%) had anencephaly. Of these patients, 97 (52.2%) were male and 89 (47.8%) were female. Hydrocephalus was an almost constant finding and was found in 140 (75.3%) patients. 51 (27.4%) patients had congenital heart disease (CHD). The most common CHD was atrial septal defect 22.3%. Orthopedic anomaly was detected in 51 (27.4%) patients, nephrological anomaly was found in 47 (25.3%) of the cases, congenital hypothyroidism was diagnosed in 14 (7.5%) patients with NTD. The mortality rate of patients diagnosed with NTD was 7.5%. The rates of premature delivery and consanguinity between parents were higher in patients with NTD. Conclusions: Our results indicate that at least one congenital anomaly is also present in about two-thirds of newborn babies with NTD, and these anomalies significantly increase their morbidity and mortality. All newborn babies with NTD should be screened for additional congenital anomalies and evaluated with more organized, multidisciplinary methods. K E Y W O R D S congenital anomalies, congenital hypothyroidism, folic acid, hydrocephalus, neural tube defect 1 | INTRODUCTION Neural tube defect (NTD) constitutes the most important ratio of congenital central nervous system malformations and develops due to non-closure of the neural tube between the third and fourth weeks of intrauterine period (Altaş et al., 2012; Greene & Copp, 2014). Its prevalence in the world varies between 0.57 and 13.87% (Nikkilä, Rydhström, & Källén, 2006). Although the incidence in Turkey varies from 3 to 5.8 per 1000 by region, it is considered to be 3 per 1000 on average (Tunçbilek, 2004). The closure of the neural tube starts from the cervical region and continues through a continuous process toward the cranial and caudal area (ACOG, 2017). Various NTD occur according to the region where the closure of the neural tube is affected. The neural tube closure
Fetal diagnosis and therapy, 2015
Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally dia...
A Profile on Neural Tube Defects
2009
Division of human genetics is a referral and counselling centre to couples, who have had the pregnancy outcome with neural tube defects. In this article is reported the findings from a total of 98 couples, whose off springs were af- fected with neural tube defects. Material from the proforma have been classified and analyzed. Upper neural tube defects have occurred in 79.6% (78) of the cases; lower in 3.1% (3) and the grouping of the neural tube defects was not known in 17(17.3%). Sex of the proband was not known in 44 cases; 37 (37.76%) were females and males were 17(17.3%). 45.92% (45) were first born. Anencephaly condition has occurred in 40.8% of the cases (40). In addition, the malformations observed were: congenital heart disease, talipes, lower limb paralysis, limb defects, polydactyly, Meckel's syndrome, atresia of biliary duct, omphalocoele, atelectasis of the lungs, hydramnios, dwarfism and renal mass. Seven of the fourteen hydro- cephalic patients have had surgery an...
Human neural tube defects: Developmental biology, epidemiology, and genetics
Neurotoxicology and Teratology, 2005
Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are the second most common type of birth defect after congenital heart defects. The most common presentations of NTD are spina bifida and anencephaly. The etiologies of NTDs are complex, with both genetic and environmental factors implicated. In this manuscript, we review the evidence for genetic etiology and for environmental influences, and we present current views on the developmental processes involved in human neural tube closure.
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital
Italian Journal of Pediatrics
Background: Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period. Methods: The medical records of 7 newborns (5 males and 2 females) admitted, over a 10-year period from January 2010 to March 2020, to our Department on the first day of life were reviewed. Analyzed data were related to familiar and/or maternal risk factors (consanguinity, maternal preexisting and/or gestational diseases, exposure to teratogen/infectious agents, lack of preconception folic acid supplement), demographic (ethnicity/origin, residence) and clinical features (eventual use of assisted reproduction techniques, prenatal diagnosis, gestational age, fetal presentation, type of delivery, birth weight, preoperative imaging, antibiotics and analgesics use, description of the surgery intervention, length of hospital stay, comorbidities, complications), and follow-up. Results: In our sample we observed a wide spectrum of NTDs: 3 newborns had open NTDs, namely myelomeningocele (2 lumbosacral, one of which associated with extradural lipoma, and 1 sacral), and 4 closed ones, including 2 with meningocele (occipital), 1 filar lipoma associated with dermal sinus, and 1 terminal myelocystocele. Our patients were discharged between 8 and 22 days of life. The neurodevelopmental follow-up showed a favorable outcome for 4 of the 7 patients, and the appearance over time of neurological impairment (motor and/or autonomic) in the newborns with open NTDs. Conclusions: This study describes familiar and/or maternal risk factors and demographic and clinical features of a single-center series of newborns with NTDs. It may provide a further outline of the actual phenotypic spectrum of these malformations, and new insights into epidemiological aspects and comprehensive management of the patients, including diagnostic work-up and follow-up evaluations.