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Abstract Background When a pregnant mother finds out she has a fetus with a congenital defect, the parents feel profound worry, anxiety, and melancholy. Anomalies can happen in singleton or twin pregnancies, though they are more common in twin pregnancies. In twins, several congenital defects are typically discordant. Case summary We present a rare case of concordant fatal anomaly in twin pregnancy in a 22-year-old African patient primigravida mother from Western Ethiopia who presented for routine antenatal care. An obstetric ultrasound scan showed anencephaly, meningomyelocele, and severe ventriculomegaly. After receiving the counseling, the patient was admitted to the ward, and the pregnancy was terminated with the medical option. Following a successful in-patient stay, she was given folic acid supplements and instructed to get preconception counseling before getting pregnant again. Conclusion The case demonstrates the importance of early obstetric ultrasound examination and detailed anatomic scanning, in twin pregnancies in particular. This case also calls for routine preconceptional care.

Introduction: Neural Tube Defects (NTDs) are one of the common congenital anomalies leading to miscarriages and serious disabilities in newborns. NTDs are the second most common type of birth defects. Even though the aetiology of NTDs is multifactorial, Folic Acid (FA) deficiency is the most common cause. There are limited Indian studies on awareness of FA usage in the general public. Aim: To assess the awareness and usage of FA to prevent NTDs in young ladies of Mangaluru, Dakshina Kannada (DK) district, Karnataka, India. Materials and Methods: It was a community-based cross-sectional study conducted at Father Muller Medical College in Dakshina Kannada district, Mangaluru, Dakshina Kannada (DK) district, Karnataka, India from August 2023 to October 2023. A total of 300 young Indian females aged 18-35 years, residing in the study district, were randomly chosen as participants. Data were collected by an interviewer using a semistructured questionnaire with two components. Part 1 focused on socio-demographic details, while Part 2 gathered information on the awareness of FA supplements, dietary sources of FA, the best time, and dosage of FA supplements to prevent NTDs. Descriptive analysis of the data was done. Results: The study included 90 married and 210 unmarried females. The average age of the participants was 23.7±5.7 years. The study results observed that only 103 (34%) of the participants had heard about FA supplements. A total of 240 (80%) of them said they were not aware of the preferred time for FA. Only 9 (3%) females could mention the correct dose of FA. Conclusion: The study results indicate a gross lack of awareness about FA supplements to prevent NTDs in the general population of the region.

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.

Acalvaria is a rare congenital malformation of unknown etiopathogenesis that affects the development of the skull and surrounding muscular structures. There is scant literature regarding the pathophysiology, and no standardized guidelines exist for patient management. Herein, we present a case of acalvaria in a newborn and our multidisciplinary approach from diagnosis to 1 year of age. [ABSTRACT FROM AUTHOR]

Background: When a pregnant mother finds out she has a fetus with a congenital defect, the parents feel profound worry, anxiety, and melancholy. Anomalies can happen in singleton or twin pregnancies, though they are more common in twin pregnancies. In twins, several congenital defects are typically discordant. Case summary: We present a rare case of concordant fatal anomaly in twin pregnancy in a 22-year-old African patient primigravida mother from Western Ethiopia who presented for routine antenatal care. An obstetric ultrasound scan showed anencephaly, meningomyelocele, and severe ventriculomegaly. After receiving the counseling, the patient was admitted to the ward, and the pregnancy was terminated with the medical option. Following a successful in-patient stay, she was given folic acid supplements and instructed to get preconception counseling before getting pregnant again. Conclusion: The case demonstrates the importance of early obstetric ultrasound examination and detailed anatomic scanning, in twin pregnancies in particular. This case also calls for routine preconceptional care. [ABSTRACT FROM AUTHOR]

Simple Summary: Simple Summary: This article focuses on conjoined twins in mammals, the theories that account for their development, their various clinical presentations, and the possible molecular implications of their development. We also present two different cases of monocephalic thoracopagus conjoined twin piglets. In both cases, the piglets also had other congenital malformations. The cases are described using necropsy and computed tomography scanning. Conjoined twins are rare congenital malformations that have been reported in mammals. Two different cases are presented in this study. Case No. 1 features monocephalic, thoracopagus-conjoined twin piglets with anencephaly and palatoschisis of the Pietrain breed, and case No. 2 features monocephalic, thoracopagus conjoined twin piglets with palatoschisis and bifid root tongue of a mixed breed. These cases were examined using post-mortem and computed tomography (CT) examinations. In both cases, the conjoined symmetrical twins had a single head, one neck, and fused thoracic cavities, while the abdominal cavities were separated. Similarly, in both cases, they had four forelimbs and four hindlimbs and duplicated foramen magnum. During CT examination, in case No. 1, severe abnormalities were observed in the skull and vertebral column. In the left twin, occult dysraphism was seen from the C2 vertebra until the end of the vertebral column, and in the right twin, from the C3 vertebra until the end of the state vertebral level. In case No. 2, the oral cavity contained a tongue with a bifid root connected with one hyoid bone, and the soft palate presented a small cleft. During CT examination, the parietal bone and the occipital bones were partially duplicated. This case also presented occult dysraphism, but only in the cervical vertebrae, C1–C6 for the left twin and C1–C5 for the right twin. In both cases, abnormalities of the internal organs were revealed during necropsy. Conjoined twins with multiple congenital anomalies presented here enhance our understanding of the various clinical forms of conjoined cases in veterinary medicine. [ABSTRACT FROM AUTHOR]

Anencephaly, a fatal anomaly of the central nervous system, belongs to the group of defects of the neural tube (NTDs). It is considered the most common congenital NTD, characterized by concurrent absence of a significant portion of the brain and cranial vault. This deformity occurs between days 23 and 26 after fertilization due to improper closure of the neural tube at its cranial end. Many genetic, epigenetic, and nongenetic factors (nutritional, environmental and geographical factors, parental socioeconomic status) contribute to the etiology of this disease. Despite significant advances in treatment and preventive measures, NTDs continue to pose a significant health and financial burden on patients and society as a whole. This study aimed to examine the incidence of anencephaly in Slovakia compared to the Czech Republic between 2012 and 2020. The authors seek to elucidate the reasons behind the higher incidence of this disease in Slovakia as compared to the Czech Republic, explore the male predominance of anencephaly in Slovakia, and investigate whether the prevention standards used in Slovakia differ from those employed in other countries (Tab. 1, Fig. 2, Ref. 129). Text in PDF www.elis.sk [ABSTRACT FROM AUTHOR]

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Background: On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, "Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification." The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate‐sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024. The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030. Methods: This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations. Results: WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership. Conclusion: The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health. [ABSTRACT FROM AUTHOR]

Background: Associations between maternal periconceptional exposure to disinfection by‐products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification. Methods: Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000–2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual‐level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied. Results: Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8–1.5 for all NTDs combined, 0.6–2.0 for spina bifida, and 0.7–1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7–1.1, 0.5–1.5, and 0.6–1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null. Conclusions: Using community‐ and individual‐level data from a large, US, population‐based, case–control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes. [ABSTRACT FROM AUTHOR]

Anencephaly is a congenital disease manifesting with the absence of the brain due to the failure of the cranial part of the neural tube to close during the embryonic stage. The disease may be accompanied by other anomalies and usually results in premature death. A stillborn puppy of a 2-year old female Pomeranian dog is examined in this case. The lack of brain tissue and accompanying abnormal skull formation was noted macroscopically. The eyes were protruding out of their normal position (protrusion), and a bifid tongue together with a secondary cleft palate was present. On serial sections stained with Haematoxylin-Eosin, only the medulla spinalis among the central nervous system structures could be inspected microscopically. Immunohistochemistry staining revealed GFAP immunoreactivity in the astrocytic glial cells. NeuN immunoreactivity was detected in the neurons in the medulla spinalis and spinal ganglions. Incomplete retinal layers were observed on the eye sections stained with Haematoxylin-Eosin and NeuN. The case was concluded to be coherent with skull and nervous system congenital malformations rarely observed in dogs. To the best of our knowledge, this represents the first description of a dog with anencephaly, bifid tongue and cleft palate. [ABSTRACT FROM AUTHOR]

Introduction: Neural Tube Defects (NTDs) are one of the common congenital anomalies leading to miscarriages and serious disabilities in newborns. NTDs are the second most common type of birth defects. Even though the aetiology of NTDs is multifactorial, Folic Acid (FA) deficiency is the most common cause. There are limited Indian studies on awareness of FA usage in the general public. Aim: To assess the awareness and usage of FA to prevent NTDs in young ladies of Mangaluru, Dakshina Kannada (DK) district, Karnataka, India. Materials and Methods: It was a community-based crosssectional study conducted at Father Muller Medical College in Dakshina Kannada district, Mangaluru, Dakshina Kannada (DK) district, Karnataka, India from August 2023 to October 2023. A total of 300 young Indian females aged 18-35 years, residing in the study district, were randomly chosen as participants. Data were collected by an interviewer using a semistructured questionnaire with two components. Part 1 focused on sociodemographic details, while Part 2 gathered information on the awareness of FA supplements, dietary sources of FA, the best time, and dosage of FA supplements to prevent NTDs. Descriptive analysis of the data was done. Results: The study included 90 married and 210 unmarried females. The average age of the participants was 23.7±5.7 years. The study results observed that only 103 (34%) of the participants had heard about FA supplements. A total of 240 (80%) of them said they were not aware of the preferred time for FA. Only 9 (3%) females could mention the correct dose of FA. Conclusion: The study results indicate a gross lack of awareness about FA supplements to prevent NTDs in the general population of the region. [ABSTRACT FROM AUTHOR]

Purpose: Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features. Methods: It was a retrospective observational study; data of infants was obtained from medical records and analysis was done. Results: Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair. Conclusion: This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs. [ABSTRACT FROM AUTHOR]

Abstract Acalvaria is a very rare congenital anomaly; thus, it is considered to be an orphan disease and is characterized by complete or partial absence of flat calvaria bones, lax skull, dura mater, and associated muscles. In this report, we describe a case of female neonate with primary acalvaria finding on neuroimaging associated with cleft palate. Keywords: Acalvaria, orphan disease, skull reconstruction, Author(s): Raza Faizan [1]; Munesh Tomar [2]; Yasmeen Usmani [3] Case Report A just-born female baby, product of natural conception with nonconsanguineous marriage, born to a 28-year-old mother via preterm [...]

Conjoined twins are rare congenital malformations that have been reported in mammals. Two different cases are presented in this study. Case No. 1 features monocephalic, thoracopagus-conjoined twin piglets with anencephaly and palatoschisis of the Pietrain breed, and case No. 2 features monocephalic, thoracopagus conjoined twin piglets with palatoschisis and bifid root tongue of a mixed breed. These cases were examined using post-mortem and computed tomography (CT) examinations. In both cases, the conjoined symmetrical twins had a single head, one neck, and fused thoracic cavities, while the abdominal cavities were separated. Similarly, in both cases, they had four forelimbs and four hindlimbs and duplicated foramen magnum. During CT examination, in case No. 1, severe abnormalities were observed in the skull and vertebral column. In the left twin, occult dysraphism was seen from the C2 vertebra until the end of the vertebral column, and in the right twin, from the C3 vertebra until the end of the state vertebral level. In case No. 2, the oral cavity contained a tongue with a bifid root connected with one hyoid bone, and the soft palate presented a small cleft. During CT examination, the parietal bone and the occipital bones were partially duplicated. This case also presented occult dysraphism, but only in the cervical vertebrae, C1–C6 for the left twin and C1–C5 for the right twin. In both cases, abnormalities of the internal organs were revealed during necropsy. Conjoined twins with multiple congenital anomalies presented here enhance our understanding of the various clinical forms of conjoined cases in veterinary medicine.

Abstract Background: Malformations of the central nervous system (CNS) include a wide range of disorders characterized by neurodevelopmental delay and seizures. They are multifactorial in etiology. There is a lack of data in India; hence, this study was planned to study the clinical profile and type of CNS malformations in children. Materials and Methods: This is a retrospective chart review of CNS malformation between January 2018 and December 2018. Details of clinical and laboratory data were analyzed. Results: Of 110 cases, males were 65. The most common age group was 1-5 years accounting for 50%. Various clinical features were developmental delay (72), seizures (58), microcephaly (57), and dysmorphism (28). History of birth asphyxia was present in 12 cases. The various malformations were neuronal migration defects (36.36%); congenital hydrocephalus (24.54%), with aqueductal stenosis being the most common etiology; neural tube defects (13, 11.8%); and posterior fossa malformation (10 of which two were Joubert syndrome). Others were five cases of agenesis of corpus callosum, one case each of hemimegalencephaly and arteriovenous malformation, and four cases of complex mixed malformations. Conclusion: The most common presentation was global developmental delay and seizures. The most common malformation of CNS observed was neuronal migration defect followed by hydrocephalus. They can present as birth asphyxia. Keywords: Central nervous system malformation, developmental delay, neural tube defects, seizures, Author(s): Vykuntaraju K. Gowda [1]; Kiruthiga Sugumar [2]; Dhananjaya K. Vamyanmane [3]; Sanjay K. Shivappa [2] Introduction Congenital malformation of the central nervous system (CNS) is due to the abnormal [...]

Simple Summary: A stillborn male kitten from an accidental inbreeding was examined through different paraclinical methods, such as radiographic, CT, and cytohistological examination, due to the existence of severe neural tube defects associated with other congenital defects. The malformations observed included exencephaly–anencephaly, closed cranial spina bifida at the level of cervical vertebrae, maxillary brachygnathia, kyphoscoliosis, palatoschisis, and partial intestinal atresia. These severe malformations have a multifactorial cause in which both genetic and environmental factors can intervene. Inbreeding increases the possibilities of genetic defects to be expressed in the phenotype. Anencephaly, a severe neural tube defect characterized by the absence of major parts of the brain and skull, is a rare congenital disorder that has been observed in various species, including cats. Considering the uncommon appearance of anencephaly, this paper aims to present anencephaly in a stillborn male kitten from an accidental inbreeding using various paraclinical methods. Histological examination of tissue samples from the cranial region, where parts of the skull were absent, revealed the presence of atypical nerve tissue with neurons and glial cells organized in clusters, surrounded by an extracellular matrix and with an abundance of blood vessels, which are large, dilated, and filled with blood, not characteristic of nerve tissue structure. In CT scans, the caudal part of the frontal bone, the fronto-temporal limits, and the parietal bone were observed to be missing. CT also revealed that the dorsal tubercle of the atlas, the dorsal neural arch, and the spinal process of the C2–C7 bones were missing. In conclusion, the kitten was affected by multiple congenital malformations, a combination of exencephaly–anencephaly, maxillary brachygnathism, closed cranial spina bifida at the level of cervical vertebrae, kyphoscoliosis, palatoschisis, and partial intestinal atresia. The importance of employing imaging techniques cannot be overstated when it comes to the accurate diagnosis of neural tube defects. [ABSTRACT FROM AUTHOR]

The central concern of this article is whether early induction of labor for an anencephalic fetus can ever be morally justified, particularly by a Catholic healthcare ethics committee. By revisiting and refining arguments in articles by Drane (1992) and Bole (1992) published in this journal, a revised argument – consistent with the Catholic moral tradition – can seemingly be constructed that a Catholic healthcare ethics committee might use to justify early induction of labor in some pregnancies involving an anencephalic fetus. Such a revised argument depends upon two central claims; first, that the anencephalic fetus in question is necessarily in the process of dying when early induction of labor occurs, and second, that the fetus is judged to be undergoing extraordinary or disproportionate means of preserving their life as a result of receiving ongoing maternal support of a mother's womb. The revised argument developed in this article aims to utilize the doctrine of double effect in conjunction with these two central claims to justify early induction of labor for anencephalic fetal persons in some circumstances. Unfortunately, the revised argument – if successful – would be at odds with a stance taken in the United States Conference of Catholic Bishops (USCCB) 1996 statement "Moral Principles Concerning Infants with Anencephaly." However, there is reason to believe the revised argument offered in this article is well aligned with other guidance from the USCCB, contained in the publication Ethical and Religious Directives for Catholic Healthcare Services (2018). This article concludes by noting some important limitations of the argument and offering hope that consideration of the argument ultimately helps to strengthen the Catholic moral tradition. [ABSTRACT FROM AUTHOR]

Aims and objectives: Globally congenital anomalies affect 2-3% of births and constitute the fifth largest cause of neonatal death. It is difficult to ascertain a single cause for defects as most of them have multifactorial etiology. They have a consequential impact on affected parents, their families, the health care system, and society as they are associated with long-term disability. In this study, efforts are made to determine the incidence of congenital anomalies, patterns, and epidemiological features in these mothers and to help develop strategies for patient counseling and management in our setting. Materials and methods: Medical records of one year were reviewed and all women who delivered after 12 weeks of gestation with congenital anomalies were studied. Their demographic data, significant history, investigations, and management details were documented and analyzed. Results: In 63 cases congenital anomalies were noted among 8,529 birth records. Incidence was 7.3 per 1,000 live births 54% were 12-28 weeks, central nervous system (CNS) anomalies were most common (42.5%), followed by cardiovascular system (CVS) anomalies (17.8%). Among CNS anomalies neural tube defects form the major proportion followed by hydrocephalus. Anencephaly is the most common neural tube defect. Conclusion: Survivors of congenital anomalies might have lifelong physical, mental, visual, and auditory disabilities if not managed appropriately, which can negatively affect the human and economic life of the person concerned, as well as their families and communities. Clinical significance: It is important to promote national programs for mitigating congenital anomalies, research to discover etiology, and maintain of national registry for formulating protocols for better counseling and management options. Strengthening the community-level strategies to decrease the incidence of NTD by way of folic acid supplementation. [ABSTRACT FROM AUTHOR]

Open spina bifida (OSB) is a common neural tube defect. Medical and surgical care involves addressing the baseline orthopedic, urologic, and neurological dysfunction as well as the changes or declines that may occur as the patient ages. Given the complexity of this disease, coordinated, multidisciplinary care involving specialists in neurosurgery, orthopedics, urology, rehabilitation and physical medicine, pediatrics, and psychology is necessary to establish and optimize baseline function. Traditionally in the US, pediatric multispecialty spina bifida clinics have provided the patient with a coordinated medical support system. Unfortunately, this coordinated, medical home has been difficult to establish during the transition from pediatric to adult care. Medical professionals must have a strong understanding of OSB to properly manage the disease and detect and prevent associated complications. In this manuscript, we (1) describe the changing needs and challenges of people living with OSB over a lifespan, (2) delineate current practices in the transition of care for people with OSB from childhood to adulthood, and (3) provide recommendations for best practices in navigating the transition process for clinicians who provide care for those afflicted with this most complex congenital abnormality of the nervous system compatible with long term survival. [ABSTRACT FROM AUTHOR]

Background: Individual measures of socioeconomic status (SES) have been associated with an increased risk of neural tube defects (NTDs); however, the association between neighborhood SES and NTD risk is unknown. Using data from the National Birth Defects Prevention Study (NBDPS) from 1997 to 2011, we investigated the association between measures of census tract SES and NTD risk. Methods: The study population included 10,028 controls and 1829 NTD cases. We linked maternal addresses to census tract SES measures and used these measures to calculate the neighborhood deprivation index. We used generalized estimating equations to calculate adjusted odds ratios (aORs) and 95% confidence intervals (CIs) estimating the impact of quartiles of census tract deprivation on NTDs adjusting for maternal race-ethnicity, maternal education, and maternal age at delivery. Results: Quartiles of higher neighborhood deprivation were associated with NTDs when compared with the least deprived quartile (Q2: aOR = 1.2; 95% CI = 1.0, 1.4; Q3: aOR = 1.3, 95% CI = 1.1, 1.5; Q4 (highest): aOR = 1.2; 95% CI = 1.0, 1.4). Results for spina bifida were similar; however, estimates for anencephaly and encephalocele were attenuated. Associations differed by maternal race-ethnicity. Conclusions: Our findings suggest that residing in a census tract with more socioeconomic deprivation is associated with an increased risk for NTDs, specifically spina bifida. [ABSTRACT FROM AUTHOR]

Background: Fetal deaths are a major source of information on the epidemiology of neural tube defects (NTDs; anencephaly and myelomeningocele). We analyzed NTDs prevalence and secular trend using fetal death records between 1994 and 2019 in Argentina. Materials and Methods: Data were obtained from the Department of Statistics and Information of the Ministry of Health (DEIS). Using the number of fetal deaths due to anencephaly and myelomeningocele, we estimated the proportion of all fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) during pre‐ and post‐fortification period in Argentina. We also estimated the ratio of fetal deaths due to anencephaly, myelomeningocele, and NTDs (anencephaly + myelomeningocele) to 10,000 live births. Secular trend in the outcomes was analyzed using a Poisson model and Joinpoint regression analysis. Results: In the entire period analyzed, the NTD proportion on fetal deaths was 1.32. In 1994, NTDs accounted for 34.7% of congenital malformations fetal deaths (CM) and 1.7% of all fetal deaths, whereas in 2019, these percentages were 9.4% and 0.5%, respectively. NTDs present a negative secular trend (p <.05). The risk of fetal death due to anencephaly and myelomeningocele decreases between 2005 and 2019 by 67% and 51% respectively (p <.05) in comparison to the period between 1994 and 2004 before the effective fortification of wheat flour used in the food industry destined for the domestic market. Discussion and Conclusion: We found a significant decrease in the risk of all fetal deaths due to NTDs, particularly anencephaly, in Argentina over the study period, with most reduction observed during the mandatory flour fortification era (introduced in Argentina in 2002). The inclusion of fetal deaths in NTD surveillance, coupled or uncoupled with other pregnancy outcomes, is essential for monitoring preventive supplementation measures. [ABSTRACT FROM AUTHOR]

This article is a case report about a pregnant woman with COVID-19 who was found to have anencephaly, a severe congenital malformation of the central nervous system. Anencephaly is characterized by the absence of the cranium and brain. The report emphasizes the importance of early detection through ultrasound examinations and discusses the high mortality rate associated with anencephaly. It also mentions risk factors and the option of terminating the pregnancy for medical reasons. The article highlights the need for adequate folic acid intake and early detection of abnormalities during pregnancy as preventive measures. [Extracted from the article]

A series of birth defects known as neural tube defects (NTDs) appear when the neural tube fails to fully or partially close during fetal development. In nations without folic acid supplementation, their incidence ranges from 0.5 to 2 per 1,000 births. The purpose of our study is to estimate the prevalence of NTDs and define the workup for newborn infants with an open neural tube in Al-Qadissiyah, Iraq. This 18-year descriptive retrospective analysis included all babies with NTD diagnoses at the Maternity and Child Teaching Hospital in Al-Qadissiyah Governorate, Iraq. Over the research period, 187 cases of NTDs were evaluated. NTDs presented a male predominance and an incidence rate of 9.4 per 1,000 births, with spina bifida (67.9%), encephalocele (24.02%), and anencephaly (8.02%) being the most prevalent defects. The typical gestational age was 36±5, whereas the typical maternal age was 30±5. It should be noted that 29.9% of women did not take folic acid supplements during the first trimester, while one-third of moms did not benefit from medical supervision during pregnancy. In 65.2% of instances, an antenatal diagnosis was made, and cesarean section was the mode of delivery in 87.8% of cases. Other than that, 64.7% of women lived in low socioeconomic conditions, and 67.9% were from rural areas. The relevance of reinforcing and maximizing folic acid measures throughout the periconceptional phase is emphasized by the fact that NTDs require high intensity and advanced care. [ABSTRACT FROM AUTHOR]

Background: Congenital malformations remain a common cause of perinatal deaths accounting for 10-15% in developing countries like India. They are the most severe disorders of the central nervous system. Although antenatal screening for congenital anomalies has been improved over the years, fetal autopsy remains the gold standard for the identification and confirmation of congenital malformations. The present study emphasizes the importance of perinatal autopsy for understanding the cause of death and also conformation of the antenatal diagnosis of the spectrum of various congenital CNS malformations. Methods: We studied 644 perinatal autopsies conducted in our hospital. The duration of the study was 5 years, from 1st August 2015 to 31st July 2020 that included all perinatal autopsies with gestational age of 22 weeks to less than 7 days. Results: Out of 644 perinatal autopsies 125 cases (19.4%) had congenital anomalies, of which 62 cases (9.6%) showed CNS malformations. The most common CNS anomalies encountered were anencephaly 14 cases (22.6%) followed by 10 cases (16.1%) each of spina bifida and meningocele, and 8 cases (12.9%) of meningomyelocele. In the present study, 6 (9.7%) cases of CNS malformations were associated with known syndromes namely Edward syndrome, Potter’s syndrome, and KlippelFeil syndrome. Along with CNS in 21 (33.9%) cases we observed associated malformations of other systems with 7 cases involving the musculoskeletal system, 3 cases involving the genitourinary system, and 5 (8.1%) cases showing multisystem involvement. Conclusion: Antenatal screening for congenital anomalies has been improved over the years. Even then fetal autopsy remains the gold standard for the identification and confirmation of congenital malformations. Understanding this gives valuable information that can be further helpful in the genetic counseling of the parents.