Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India.

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.

The role of the "beret" sign and other markers in ultrasound diagnostic of the acrania-exencephaly-anencephaly sequence stages.

INTRODUCTION: Neural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania-exencephaly-anencephaly sequence (AEAS). In AEAS, the cerebral tissue is not protected and is gradually destroyed due to exposure to the harmful effect of amniotic fluid and mechanical injuries. These lead to exencephaly and then into anencephaly. In contrast to primary anencephaly (NTDs), this type of anencephaly authors suggests calling secondary anencephaly. OBJECTIVE: Analysis of the known prenatal ultrasonography (US) signs associated with AEAS. Simultaneously, the authors propose a new sign in the differentiation of acrania from exencephaly and anencephaly, called the "beret" sign. METHODS: It is a two-centre retrospective observational study. As part of the study, 4060 US scans were analyzed. RESULTS: In 10 cases, the absence of calvarium was diagnosed, allowing recognition of either AEAS stages or primary anencephaly. In 5 cases, cerebral structures were enclosed by an inertial rippled thin membrane, with a smooth outer contour. Between the described membrane and the brain structures, a thin anechoic space corresponding to cerebrospinal fluid was observed. This sign was defined as the "beret" sign. In these cases, acrania was diagnosed. In three cases calvarium was missing. The brain structures had an irregular appearance, did not wave and remained motionless. The outer contour was unequal as if divided into lobes. Amniotic fluid was anechoic. Exencephaly was diagnosed in these cases. In two cases calvarium, brain structures, and meninges were missing. The "frog eyes" sign and slightly echogenic amniotic fluid were visible. In this case, anencephaly was diagnosed. CONCLUSIONS: The "beret" sign seems to be a promising tool in the diagnosis of acrania. Furthermore, echogenicity of amniotic fluid could be useful during differentiation between primary and secondary anencephaly.

Neural tube defect diagnosis and outcomes at a tertiary South African hospital with intensive case ascertainment.

BACKGROUND: Neural tube defects (NTDs) are an important category of birth defect, but surveillance remains inadequate in South Africa. OBJECTIVES: To assess the identification of NTDs at a tertiary hospital using a range of prenatal, perinatal and postnatal data sources, and to estimate the impact of prenatal diagnosis and birth prevalence for the referral area. METHODS: Cases of anencephaly, encephalocele and spina bifida (SB) in a 6-year period were retrospectively identified from 5 data sources covering prenatal, perinatal and postnatal care. These were cross-correlated to avoid duplicate entries and to determine the contribution of different data sources. Details of prenatal diagnosis and termination of pregnancy (TOP) were obtained for 10 years, and birth prevalence over 2 years. RESULTS: During a 6-year period 195 NTDs were identified at a Western Cape Province tertiary hospital. These included 59 (30%) cases of anencephaly, 28 (14%) of encephalocele and 108 (55%) of SB. The majority of NTDs (71%) were detected prenatally, although SB was less commonly diagnosed prenatally than cranial defects (56% v. 88%; p<0.001). Of SB cases ascertained pre- or postnatally, 57% of patients were born alive and 50% discharged alive, but 72% of survivors had not been diagnosed prenatally. Women receiving prenatal diagnosis of any type of NTD before 24 weeks' gestation were nearly always offered TOP, and the majority accepted termination after non-directive counselling. For SB, later prenatal diagnosis was associated with much lower termination rates because the option was less often offered (51% v. 100%; p<0.001), and perhaps less often accepted (57% v. 78%; p=0.06). The estimated NTD birth prevalence for the referral area was 0.76 - 0.80 per 1 000 live births, but perhaps up to 1.18 per 1 000 when considering under-referral of lethal cranial lesions from rural areas. CONCLUSIONS: A substantial number of NTDs can be ascertained from a tertiary hospital environment if multiple data sources are used, even though adding data from the Perinatal Problem Identification Program for outlying health facilities increases detection of lethal defects. Hospital-based surveillance can be considered, especially for SB. Prenatal diagnosis was fairly common and pregnancy termination was often offered and accepted if detected before 24 weeks' gestation. A regional prenatal ultrasound programme, predominantly based in primary care but with ready access to a tertiary centre, can be quite effective, although limited or delayed access to prenatal diagnosis must be addressed.

Gangliosidome of human anencephaly: A high resolution multistage mass spectrometry study.

Widely dispersed throughout the entire body tissues, gangliosides (GGs) are essential components of neuronal cell membranes, where exhibit a vital role in neuronal function and brain development, directly influencing the neural tube formation, neurogenesis, neurotransmission, etc. Due to several factors, partial or complete closing faults of the fetal neural tube may occur in the first trimester of pregnancy, generating a series of neural tube defects (NTD), among which anencephaly. The absence in anencephaly of the forebrain and skull bones determines the exposure to the amniotic fluid of the remaining brain tissue and the spinal cord, causing the degeneration of the nervous system tissue. Based on the previously achieved information related to the direct alteration of neural development with deficient concentration of several GGs, a systematic and comparative mass spectrometry (MS) mapping assay on GGs originating from fetuses in different intrauterine developmental stages, i.e. the 29th (denoted An29), 35th (An35) and the 37th (An37) gestational weeks was here conducted. Our approach, based on Orbitrap MS under high sensitivity, resolution and mass accuracy conditions, enabled for the first time the nanoelectrospray ionization, detection and identification of over 150 glycoforms, mainly novel, polysialylated species. Such a pattern, specific for incipient developmental stages reliably documents the brain development stagnation, characteristic for anencephaly. Further, the fragmentation MS2-MS3 experiments by collision induced dissociation (CID) confirmed the incidence in all three samples of GT2(d18:1/16:2) as a potential biomarker. Therefore, this fingerprinting of the anencephalic gangliosidome may serve in development of approaches for routine screening and early diagnosis.

Anencefalia: conhecimento e opinião dos médicos ginecologistas-obstetras e pediatras de Goiânia / Anencephaly: knowledge and opinion of gynecologists, obstetricians and pediatricians in Goiânia / La anencefalia: conocimiento y opinión de los ginecólogos, obstetras y pediatras en Goiânia

Objetivando analisar o grau de conhecimento e opinião dos médicos sobre anencefalia, foi realizado estudo transversal com 70 ginecologistas-obstetras e pediatras de dois hospitais de Goiânia. Os entrevistados responderam a questionário com 20 perguntas fechadas, com opções "verdadeiro" ou "falso", abrangendo cinco temas distribuídos em 31 afirmações com respostas em escala tipo Likert. A maioria dos entrevistados afirmou ter assistido a aula sobre anencefalia (70%), e a média de acertos foi de 13,17 questões. As afirmações com mais acertos versavam sobre a gestação do anencéfalo (80%) e que anencefalia não significa morte encefálica (72%). As questões com menor número de acertos abordavam doação de órgãos de anencéfalo nascido vivo (35%) e a legislação que permite a interrupção da gestação perante diagnóstico inequívoco de anencefalia (47,1%). Dos profissionais ouvidos, 30,41% concordaram que o anencéfalo tem vida. Conclui-se que a anencefalia ainda é tema polêmico e necessita ser mais conhecida entre médicos.

In order to analyze the knowledge and opinion of physicians about anencephaly, a cross-sectional study was performed, including 70 obstetrician-gynecologists and pediatricians of two hospitals in Goiania, Brazil. The interviewees answered a survey of 20 true or false closed questions. Their opinions were evaluated through a 5-subject questionnaire, with 31 affirmations with a Likert-type response scale. Most of the interviewees (70%) affirmed to have attended classes on anencephaly. The average of correct answers was 13.17. The assertive questions with the highest percentage of correct answers were on anencephalic pregnancy (80%) and the distinction between anencephaly and brain death (72%). The questions with the lowest number of correct answers were about the donation of anencephalic born alive babies' organs (35%) and about the legislation that permits pregnancy termination when anencephaly had been unequivocally diagnosed (47.1%). Among those heard, 30.41% agreed on the fact that anencephalic babies have life. In conclusion, anencephaly is still a controversial topic and physicians need to acquire more knowledge on the subject.

Con el objetivo de analizar el grado de conocimiento y opinión de los médicos sobre la anencefalia, fué hecho estudio transversal con 70 médicos ginecólogos/obstetras y pediatras de los hospitales de Goiânia, Brasil. Los entrevistados respondieron un cuestionario de 20 preguntas de verdadero o falso, y se evaluaron sus opiniones a través de un cuestionario con cinco preguntas que contenían 31 opciones de respuestas en escala tipo Likert. La mayoría (70%) participó en clases sobre anencefalia. El promedio de respuestas correctas fue del 13. 17 preguntas. Las afirmaciones con mayor número de respuestas correctas se registraron en relación a la gestación del anencéfalo (80%) y sobre que no existe en este caso muerte encefálica (72%). Las preguntas con menores números de respuestas correctas se relacionaron a la donación de órganos del anencéfalo nacido vivo (35%) y sobre la legislación que permite la interrupción de la gestación frente al diagnóstico inequívoco de anencefalia (47,1%). El 30,41% estuvo de acuerdo que el anencéfalo tiene vida. A la conclusión se verfiicó que la anencefalia es aún un tema polémico y necesita un mayor conocimiento entre los médicos.

Quantification of plasma myo-inositol using gas chromatography-mass spectrometry.

BACKGROUND: Myo-inositol (MI) deficiency is associated with an increased risk for neural tube defects (NTDs), mental disorders and metabolic diseases. We developed a gas chromatography-mass spectrometry (GC-MS) method to detect MI in human plasma, which was accurate, relatively efficient and convenient for clinical application. METHODS: An external standard method was used for determination of plasma MI. Samples were analyzed by GC-MS after derivatization. The stable-isotope labeled internal standard approach was used to validate the method's accuracy. Alpha fetal protein (AFP) was detected by chemiluminescence immunoassay. RESULTS: The method was validated by determining the linearity, sensitivity and recovery rate. There was a good agreement between the internal standard approach and the present method. The NTD-affected pregnancies showed lower plasma MI (P=0.024) and higher AFP levels (P=0.001) than control. Maternal MI level showed a better discrimination in spina bifida subgroup, while AFP level showed a better discrimination in anencephaly subgroup after stratification analysis. CONCLUSIONS: We developed a sensitive and reliable method for the detection of clinical plasma MI, which might be a marker for NTDs screening, and established fundamental knowledge for clinical diagnosis and prevention for the diseases related to disturbed MI metabolism.

Comparación de resultados perinatales entre gestaciones gemelares espontáneas y las provenientes de técnicas de reproducción asistida / Comparison between spontaneous twin pregnancy and ivf twin pregnancy perinatal outcomes

OBJETIVO: Evaluar si las técnicas de reproducción asistida influyen sobre los resultados perinatales del embarazo gemelar. Sujetos y métodos: Estudio de revisión de resultados perinatales en embarazos gemelares en una clínica privada en el que se incluyen todos los embarazos gemelares espontáneos y por técnicas de reproducción asistida (TRA) que acuden a su atención obstétrica excluyendo aquellas mujeres con enfermedades preexistentes que supongan un resultado perinatal adverso. Se analizan 95 casos. RESULTADOS: No hubo diferencia estadística en términos de diabetes gestacional, presencia de preeclampsia, práctica de cesárea, peso promedio del recién nacido e ingreso a unidad de cuidados intensivos neonatales. Hubo diferencia estadística en los casos de anemia gestacional (61,29 % del grupo de gemelar espontáneo versus un 31,25 % del gemelar por TRA, p= 0,0075) y en el grupo de semanas de edad gestacional al momento del parto: 32-36,6 semanas (32,25 % para gemelar espontáneo y 65,62 % para gemelar por TRA, p = 0,0039) y en el de >37 semanas de gestación (58,08 % para gemelar espontáneo y 26,57 % para gemelar por TRA, p = 0,0059). CONCLUSIONES: Las técnicas de reproducción asistida se asocian con una mayor prevalencia de parto pretérmino

OBJECTIVE: To evaluate if assisted reproductive techniques affect perinatal outcomes of twin pregnancies. Subject and method: This is a review of perinatal outcomes of twin pregnancies in a private institution. All twin pregnancies detected were included and classified in two groups: spontaneous pregnancy and assisted reproduction (AR) pregnancy. Those women who had a preexistent condition that could represent an adverse outcome were excluded. 95 cases were included. RESULTS: There was no statistical difference in terms of gestational diabetes, preeclampsia, c-section, newborn weight and in those who required neonatal intensive care. There was statistical difference in gestational anemia (61.29 % vs 31.25 % for spontaneous twin pregnancy and assisted reproduction twin pregnancy respectively, p = 0.0075) and in two groups according to gestational weeks at delivery: 32-36.6 weeks (32.25 % for spontaneous twin pregnancy and 65.62 % for AR twin pregnancy, p = 0.0039) and >37 weeks at delivery (58.08 % for spontaneous twin pregnancy and 26.57 % for AR twin pregnancy, p = 0.0059). CONCLUSION: Assisted reproductive techniques associate with a higher prevalence of preterm labor

Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population.

BACKGROUND: After years of periconceptional folic acid supplementation, the prevalence of neural tube defects (NTDs) remains stable following the remarkable reduction observed immediately after the fortification practice. There is accumulating evidence that folate receptor (FR) autoimmunity may play a role in the etiology of folate-sensitive NTDs. METHODS: From 2011 to 2013, 118 NTD cases and 242 healthy controls were recruited from a population-based birth defects surveillance system in Northern China. Enzyme-linked immunosorbent assay was used to measure FR autoantibodies in maternal and cord blood. Logistic regression models were used to estimate the odds ratios (OR) and 95% confidence intervals (95% CI). RESULTS: Plasma FR autoantibodies levels were significantly elevated in mothers of infants with NTDs compared with mothers of healthy controls. Using the lowest tertile as the referent group, 2.20-fold (95% CI, 0.71-6.80) and 5.53-fold increased odds (95% CI, 1.90-16.08) of NTDs were observed for the second and third tertile of immunoglobulin G (IgG), respectively, and the odds of NTDs for each successive tertile of IgM was 0.98 (95% CI, 0.35-2.75) and 3.49 (95% CI, 1.45-8.39), respectively. A dose-response relationship was found between FR autoantibodies levels and risk of NTDs (P < 0.001 for IgG, P = 0.002 for IgM). The same pattern was observed in both subtypes of spina bifida and anencephaly. No significant difference in levels of cord blood FR autoantibodies was observed. CONCLUSION: Higher levels of FR autoimmunity in maternal plasma are associated with elevated risk of NTDs in a dose-response manner. Birth Defects Research (Part A) 106:685-695, 2016. © 2016 Wiley Periodicals, Inc.

Anencephaly: An Ongoing Investigation in Washington State.

: In the spring of 2012, a nurse in Washington State detected a cluster of babies born with anencephaly-a fatal condition in which infants are born without parts of the brain or skull. The resulting investigation initially confirmed a rate of anencephaly between January 2010 and January 2013 of 8.4 per 10,000 live births-more than four times the national average. As of November 2015, cases of anencephaly in Washington State have continued to increase, with the current rate estimated at 9.5 per 10,000 live births. While no distinct cause has yet been determined, neural tube defects-including anencephaly-are known to have multiple causes, including folic acid deficit, genetic variants in the folate pathway, and exposure to a variety of environmental and occupational toxins. This article describes many of these risk factors and explores the findings of Washington's ongoing investigation.

Folic acid supplementation influences the distribution of neural tube defect subtypes: A registry-based study.

Periconceptional folic acid (FA) reduces neural tube defect (NTD) risk, but seems to have a varying effect per NTD subtype. We aimed to study the effect of FA supplementation on NTD subtype distribution using data from EUROCAT Northern Netherlands. We included all birth types with non-syndromal NTDs born in 1997-2012. By Fisher's exact test we analyzed possible differences in NTD subtype distribution between a correct FA supplementation group and incorrect FA supplementation group. We found proportionally fewer cervical/thoracic spina bifida cases and more lumbar/sacral spina bifida cases in the correct FA supplementation group, irrespective of the presence of the main NTD risk factors. The effect on NTD subtype distribution was only seen when FA supplementation was started before conception. We conclude that FA not only prevents the occurrence of a significant proportion of NTDs, but might also decrease the severity of NTDs, as long as supplementation is started before conception.

Prenatal evaluation of atelencephaly.

Atelencephaly is a rare lethal congenital brain malformation characterized by underdevelopment of the prosencephalon and is often accompanied by the facial features seen in some cases of holoprosencephaly, such as cyclopia. We report a case of atelencephaly in the fetus with characteristic ultrasound findings. In addition, we report the findings on fetal MRI, which have not been previously described in the literature.

Elective ventilation to facilitate organ donation in infants with anencephaly: perinatal professionals' views and an ethical analysis.

AIM: Following the elective ventilation and referral for organ donation of an infant with anencephaly, we sought local perinatal professionals' views of this practice. METHODS: Anonymous online survey: demographics, ethical viewpoints and potential public/maternal perceptions (standard 5-part Likert scale and free text). DEMOGRAPHICS: 49 replies (38 female): 4 obstetricians, 14 neonatologists, 6 foetal clinicians, 23 nurses, 1 anaesthetist and 1 reproductive specialist. EXPERIENCE: 0.5-33 years (average 12). Twenty-one had experience of anencephalic delivery, and 10 reported pregnancy continued for religious reasons. ETHICS: (i) 73% thought anencephalic donation acceptable, of which 64% supported elective ventilation, 20% neutral and 16% disagreed. (ii) Provision of treatments not in infant's strict best interest to facilitate donation: 22% strongly agreed, 36% agreed, 33% neutral and 9% disagreed. (iii) Accept ventilation to permit donation if societal benefit: 53% agreed, 33% neutral and 13% disagreed. (iv) Public opinion: 59% disagreed anencephalic donation would harm public opinion about donation and 19% agreed. CONCLUSION: We found a supportive local environment for donation in the setting of anencephaly, including support for elective ventilation. Given this, and our ethical analysis, we recommend provision of organ donation information as part of palliative care counselling for women carrying a foetus with a condition likely to be fatal in infancy.

PATTERNS OF NEURAL TUBE DEFECTS AT TWO TEACHING HOSPITALS IN ADDIS ABABA, ETHIOPIA A THREE YEARS RETROSPECTIVE STUDY.

BACKGROUND: Neural tube defects (NTDs), one of the most common congenital malformations, are potentially preventable cause of perinatal morbidity and mortality. OBJECTIVES: To give baseline description of NTDs and their outcome at two teaching hospitals in Addis Ababa, Ethiopia. MATERIALS AND METHODS: A retrospective cross sectional descriptive study conducted from September 2009 to August 2012. RESULTS: During the study period out of 28,961 deliveries 177 cases of NTDs were identified, giving an overall NTD prevalence of 6.1/1000. Only 12% (21/177) were diagnosed before 28 weeks of gestation. The mean gestational age at diagnosis of NTDs was 33.8 weeks (±5.5). Majority, 93.2% (165/177), had antenatal care (ANC) follow-up. Most, 72% (127/177), were diagnosed by ultrasound before delivery while 28% (50/177) were identified at the time of delivery or expulsion. Majority, 85.3% (151/177), never received folic acid supplementation. Only less than 1% (2/177) of the mothers started taking folic acid supplementation pre-conceptionally. Only a third, 33.3% (59/177), of the fetuses were born alive while only 13.6% (24/177) were discharged alive. Myelomeningocele, identified in 51.4% (91/177), was the commonest NTD in this study. CONCLUSION AND RECOMMENDATIONS: The proportion of NTDs in this study is among the highest globally reported rates. The practice of periconceptional folic acid supplementation is negligible. And although most had ANC follow-up the vast majority of NTDs were diagnosed late in the third trimester. It is, therefore, highly recommended to consider implementing national preventive strategies to reduce the prevalence of NTDs in Ethiopia.

Feto Anencefálico: presentación de un caso y revisión de la entidad / Anencephalic fetus. A case p resentation and entity revision

Según la clasificación internacional de enfermedades, las malformaciones congénitas del Sistema Nervioso se pueden clasificar en: Anencefalia y malformaciones congénitas similares, Encefaloceles, Microcefalias, Hidrocefalias, Espina Bífida y otras malformaciones congénitas de la médula espinal. La Anencefalia se puede definir como un cierre defectuoso del neuroporo anterior durante la 4ta semana de gestación. En el momento de nacer, se denota como una masa de tejido degenerado que queda al descubierto. Esta afección es mortal en cuestión de horas o en algunas situaciones especiales días. Se presenta el caso del nacimiento de un feto anencefálico, en el Hospital Integral Comunitario en Caranavi, La Paz, Bolivia el 7 de Mayo del 2014, con el objetivo de identificar los factores asociados a esta entidad y hacer una revisión en la literatura reportada, para lo que se tomó en cuenta los artículos relacionados que circulan en la red en idioma Inglés y Español. Se concluye que hubo varios factores de riesgo relacionados con este tipo de malformación, reconocidos en la literatura revisada como: edad materna avanzada, no ingestión de acido fólico y factores ambientales adversos (manipulación de fertilizantes químicos). En la actualidad no existe cura ni tratamiento para esta entidad, solo la optimización de los servicios de atención prenatal incluyendo el programa de genética de detección precoz de malformaciones fetales, logrará disminuir el nacimiento de estos infantes(AU)

According to the international classification of diseases, the congenital malformations of the nervous system can be classified into: Anencephaly and similar congenital malformations, Encephalocele, Microcephalias, Hydrocephalias, Bifid Spina and other congenital malformations of the spinal cord. The Anencephalia can be defined as a defective closure of the previous neuropore during the 4th week of gestation. It is denoted at birth as a degenerate mass of tissue exposed. This condition is lethal in a few hours and in some special situations it can take days. It is presented the case of an anencephalic fetus, at the Community Integral Hospital in Caranavi, La Paz, Bolivia on May 7, 2014, with the aim of identifying the factors associated with this condition and making a literature revision, for which it was taken into account the related articles circulating on the net in English and Spanish language. It is concluded that there are several risk factors associated with this type of malformation, and they are recognized in the revised literatureas: the advanced maternal age, the non-taking of folic acid and the adverse environmental factors (handling of chemical fertilizers). There is no cure for this condition yet, only the optimization of prenatal care services,including the genetic program of early detection of fetal malformations will decrease these births(EU)

When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.

Neural tube defects (NTDs) are the most common of the severe malformations of the brain and spinal cord. Increased maternal intake of folic acid (FA) during the periconceptional period is known to reduce NTD risk. Data from 1046 NTD cases in South Carolina were gathered over 20 years of surveillance. It was possible to determine maternal periconceptional FA use in 615 NTD-affected pregnancies. In 163 occurrent (26.9%) and two recurrent (22%) NTD cases, the mothers reported periconceptional FA use. These women were older and more likely to be white. Maternal periconceptional FA usage was reported in 40.4% of cases of spina bifida with other anomalies but in only 25.2% of isolated spina bifida cases (P = 0.02). This enrichment for associated anomalies was not noted among cases of anencephaly or of encephalocele. Among the 563 subsequent pregnancies to mothers with previous NTD-affected pregnancies, those taking FA had a 0.4% NTD recurrence rate, but the recurrence without FA was 8.5%. NTDs with other associated findings were less likely to be prevented by FA, suggesting there is a background NTD rate that cannot be further reduced by FA. Nonetheless, the majority (73.9%) of NTDs in pregnancies in which the mothers reported periconceptional FA use were isolated NTDs of usual types. Cases in which FA failed in prevention of NTDs provide potential areas for further study into the causation of NTDs. The measures and techniques implemented in South Carolina can serve as an effective and successful model for prevention of NTD occurrence and recurrence.

Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome.

OBJECTIVE: The aim of the article is to examine the psychological impact, specifically symptoms of grief, post-traumatic stress and depression, in women and men who either terminated or continued a pregnancy following prenatal diagnosis of a lethal fetal defect. METHOD: This project investigated a diagnostically homogeneous group composed of 158 women and 109 men who lost a pregnancy to anencephaly, a lethal neural tube defect. Participants completed the Perinatal Grief Scale, Impact of Event Scale - Revised and Beck Depression Inventory-II, which measure symptoms of grief, post-traumatic stress and depression, respectively. Demographics, religiosity and pregnancy choices were also collected. Gender-specific analysis of variance was performed for instrument total scores and subscales. RESULTS: Women who terminated reported significantly more despair (p = 0.02), avoidance (p = 0.008) and depression (p = 0.04) than women who continued the pregnancy. Organizational religious activity was associated with a reduction in grief (Perinatal Grief Scale subscales) in both women (p = 0.02, p = 0.04 and p = 0.03) and men (p = 0.047). CONCLUSION: There appears to be a psychological benefit to women to continue the pregnancy following a lethal fetal diagnosis. Following a lethal fetal diagnosis, the risks and benefits, including psychological effects, of termination and continuation of pregnancy should be discussed in detail with an effort to be as nondirective as possible.

Anencefalia e anomalias congênitas: contribuição do patologista ao Poder Judiciário / Anencephaly and congenital abnormalities: the pathologist’s contribution to Judiciary

O Supremo Tribunal Federal, em 2012, proferiu decisão histórica no bojo da Arguição de Descumprimento de Preceito Fundamental 54, baseando-se na premissa de que somente o feto com capacidade de ser pessoa pode ser sujeito passivo do crime de aborto. O tema é dos mais importantes, pois envolve dignidade, liberdade, autodeterminação e direitos individuais. Decidiu-se que a antecipação terapêutica do parto, nessa situação, não constitui aborto, uma vez que esse tipo penal pressupõe potencialidade de vida extrauterina. Ressalta-se a existência de numerosas síndromes malformativas, também incompatíveis com a vida extrauterina, que devem ser objeto de regulamentação, com base na isonomia. É fundamental o diagnóstico intraútero, além do estudo minucioso do produto da concepção, mediante necropsia realizada por equipe especializada. Importa, ainda, privilegiar o debate e conferir tratamento jurídico semelhante a condições fetais que, embora não tão conhecidas como a anencefalia, acarretam o mesmo impacto social e condições jurídicas análogas...

The Federal Supreme Court of Brazil in 2012 issued a historical decision in the context of Arguição de Descumprimento de Preceito Fundamental – ADPF 54, based on the premise that only the fetus that has the capacity to be a person can be the victim of the crime of abortion. The topic is important because it involves dignity, liberty, self-determination and individual rights. It was decided that performing the delivery earlier, in this situation, is not abortion, because this crime supposes potential for extra-uterine life. In this context, several malformation syndromes are underlined, also incompatible with extra-uterine life, which must be topics for regulations, anchored in isonomy. Intra-uterine diagnosis is essential, as well as the thorough study of the fetus, by the means of necropsy performed by pathologists. It is important, still, to grant equal judicial treatment to fetal conditions which, although not as well known as anencephaly, carry the same social impact and have analogous judicial situation...

La Suprema Corte brasileña ha proferido decisión histórica en el ámbito de Arguição de Descumprimento de Preceito Fundamental – ADPF 54, con basis en la premisa de que solamente el feto con capacidad de ser persona puede ser sujeto pasivo del crimen de aborto. El tema es importante porque envuelve cuestiones como libertad, autodeterminación y derechos individuales. Se ha decidido que la anticipación terapéutica del parto, en esa situación, no constituye aborto, ya que ese tipo penal presupone la potencialidad de vida extrauterina. Se resalta la existencia de diversas síndromes malformativas, incompatibles con la vida extrauterina, que deben tornarse objeto de regulación. Es fundamental hacer diagnóstico intraútero, a parte de un estudio del producto de la concepción, a través de necropsia realizada por equipo de expertos. Es necesario que se haga una discusión del tema y que se de tratamiento jurídico similar a condiciones fetales que resultan en el mismo impacto social y en condiciones jurídicas análogas...

Anencefalia: presentación de 1 caso / Anencephaly. Presentation of a case

La anencefalia es una de las anomalías del tubo neural más comunes. Estas anomalías son defectos congénitos que afectan el tejido que crece en el cerebro y la médula espinal, el objetivo de la presente investigación es describir un caso de anencefalia que es un defecto congénito poco frecuente en el neonato en la fusión de varios sitios de cierre del tubo neural. Defecto en la fusión de varios sitios de cierre del tubo neural ocurre cuando el extremo encefálico o cabeza del tubo neural no logra cerrarse, generalmente entre el 23º y el 26º día del embarazo, dando como resultado una malformación cerebral congénita caracterizada por la ausencia parcial o total del cerebro, cráneo, y cuero cabelludo; su frecuencia varía entre 0.5 y 2 por cada 1 000 nacimientos. Se presenta un caso de un primer gemelar que nace con ausencia de cráneo, con puntuación de apgar bajo que a pesar de las medidas de sostén fallece a las 20 horas de edad(AU)

The anencephaly is one of the most common anomalies of the neural tube. These anomalies are congenital defects that affect the tissues that grow in the brain and the spinal cord, the objective of this investigation is to describe a case of anencephaly that is an infrequent congenital defect in the newborns in the fusion of several closing places of the neural tube. The defect in the fusion of several closing places of the neural tube occurs when the encephalic extreme or head of the neural tube does not close, generally between the 23º and the 26º day of the pregnancy, causing a congenital cerebral malformation characterized by the partial or total absence of the brain, skull, and scalp; its frequency varies between 0.5 and 2 per 1000 births. It is presented a case of a first twin who comes to the world with absence of skull, with a low apgar, and in spite of the ways to keep him alive, he died after 20 hours(EU)