Congenital anomalies and risk factors in Africa: a systematic review and meta-analysis.

OBJECTIVE: To evaluate the pooled prevalence and identify risk factors of congenital anomalies among neonates in Africa. METHODS: The pooled birth prevalence of congenital anomalies was the first outcome of this review, and the pooled measure of association between congenital anomalies and related risk factors in Africa was the second. We conducted a thorough search of the databases PubMed/ Medline, PubMed Central, Hinary, Google, Cochrane Library, African Journals Online, Web of Science and Google Scholar up to 31 January 2023. The JBI appraisal checklist was used to evaluate the studies. STATA V.17 was used for the analysis. The I2 test and Eggers and Beggs tests were used to measure study heterogeneity and publication bias respectively. The pooled prevalence of congenital anomalies was calculated using DerSimonian and Laird random-effect model. Subgroup analysis, sensitivity analysis and meta-regression were also performed. RESULT: This systematic review and meta-analysis includes 32 studies with a total of 626 983 participants. The pooled prevalence of congenital anomalies was 23.5 (95% CI 20 to 26.9) per 1000 newborns. Not taking folic acid (pooled OR=2.67; 95% CI (1.42 to 5.00)), history of maternal illness (pooled OR=2.44, 95% CI (1.2 to 4.94)), history of drug use (pooled OR=2.74, 95% CI (1.29 to 5.81)), maternal age (>35 years.) (Pooled OR=1.97, 95% CI (1.15 to 3.37)), drinking alcohol (pooled OR=3.15, 95% CI (1.4 to 7.04)), kchat chewing (pooled OR=3.34, 5% CI (1.68 to 6.65)) and urban residence (pooled OR=0.58, 95% CI (0.36 to 0.95)) were had significant association with congenital anomalies. CONCLUSION: The pooled prevalence of congenital abnormalities in Africa was found to be substantial, with significant regional variation. Appropriate folate supplementation during pregnancy, proper management of maternal sickness, proper antenatal care, referring healthcare personnel before using drugs, avoiding alcohol intake and kchat chewing are all important in lowering the occurrence of congenital abnormalities among newborns in Africa.

Maternal traditional Chinese medicine exposure and risk of congenital malformations: a multicenter prospective cohort study.

INTRODUCTION: The potential teratogenic risk of traditional Chinese medicine (TCM) is of widespread concern; however, related evidence is largely absent in humans. This study aimed to compare the prevalence of congenital malformations between pregnant women with and without TCM exposure. MATERIAL AND METHODS: This was a multicenter prospective cohort study of 17 713 women who participated in a survey on periconceptional TCM exposure. Primary outcome was congenital malformations diagnosed from a survey conducted on the day 42 after delivery. RESULTS: A total of 16 751 pregnant women with 273 congenital malformations were included in the analysis. Fetuses exposed to TCM had an increased risk of congenital malformations compared to those without exposure (odds ratio [OR] 2.10; 95% confidence interval [CI] 1.09-4.02) after controlling for potential confounders. There were significant associations with congenital malformations in women with early pregnant exposure (OR 2.04, 95% CI 1.00-4.20) and for those who received ≥2 TCM formulas (OR 5.84, 95% CI 1.44-23.65). Pre-pregnancy TCM exposure was significantly associated with an increased risk of congenital heart defects (OR 12.69; 95% CI 3.01-53.51). CONCLUSIONS: Periconceptional TCM exposure is associated with an increased risk of congenital malformation. This effect was cumulative and sensitive to periconceptional age. Therefore, TCM deserves more attention and should be used cautiously for pregnant women and those trying to become pregnant.

Prevalence, Pattern, and Outcome of Congenital Anomalies Admitted to a Neonatal Unit in a Low-Income Country-a Ten-Year Retrospective Study.

OBJECTIVE: The incidence of congenital abnormalities is highest in low-and-middle-income countries. However, the prevalence, spectrum, trends of neonatal congenital anomalies and their admission outcomes have not been well explored. This study was a 10 year retrospective hospital-based research in a low-income country to address the above. METHODS: All infants hospitalized in the Special Care Baby Unit at the Cape Coast Teaching Hospital in Ghana, between 1st January 2010 and 31st December 2019, had their demographic, obstetric, and clinical data recorded. RESULTS: Over the decade, 236 neonates with congenital abnormalities were admitted to the unit, accounting for 2.8% of total neonatal admissions and 8.6 per 1000 births. Mortality occurred in 33.2% of neonates with congenital abnormalities, corresponding to 4.6% of all neonatal deaths. Mortality was significantly associated with place of delivery and gravidity of more than five. The commonest anomalies were in the nervous system, particularly neural tube defects, followed by suspected chromosomal abnormalities and then cardiac defects. Neonates with cardiac defects had a higher chance of dying. Health center/clinic delivery proffered a better survival than hospital delivery, but this should be interpreted with caution. CONCLUSION: Neural tube defects were the most predominant anomalies; hence, intensification of preconception and antenatal folic acid supplementation is pivotal towards their reduction. Making prenatal screening for early detection of fetal anomalies an integral part of routine antenatal care is also essential. This research was conducted in a single center and did not include stillbirths and abortions so cannot give an accurate estimation of the number of congenital abnormalities in the population. A national registry of congenital anomalies is recommended.

Intervenções psicológicas necessárias: a prática como residente no serviço de medicina fetal / Necessary psychological interventions: the practice as a resident in the fetal medicine service / Intervenciones psicológicas necesarias: la práctica como residente en el servicio de medicina fetal

Com os avanços tecnológicos e o aprimoramento da prática médica via ultrassonografia, já é possível detectar possíveis problemas no feto desde a gestação. O objetivo deste estudo foi analisar a prática do psicólogo no contexto de gestações que envolvem riscos fetais. Trata-se de um estudo qualitativo sob formato de relato de experiência como psicólogo residente no Serviço de Medicina Fetal da Maternidade Escola da Universidade Federal do Rio de Janeiro (UFRJ). Os registros, feitos por observação participante e diário de campo, foram analisados em dois eixos temáticos: 1) intervenções psicológicas no trabalho em equipe em consulta de pré-natal, exame de ultrassonografia e procedimento de amniocentese; e 2) intervenções psicológicas em casos de bebês incompatíveis com a vida. Os resultados indicaram que o psicólogo nesse serviço é essencial para atuar de forma multiprofissional na assistência pré-natal para gravidezes de alto risco fetal. Ademais, a preceptoria do residente é relevante para sua formação e treinamento para atuação profissional no campo da psicologia perinatal.(AU)

Face to the technological advances and the improvement of medical practice via ultrasound, it is already possible to detect possible problems in the fetus since pregnancy. The objective of this study was to analyze the psychologist's practice in the context of pregnancies which involve fetal risks. It is a qualitative study based on an experience report as a psychologist trainee at the Fetal Medicine Service of the Maternity School of UFRJ. The records, based on the participant observation and field diary, were analyzed in two thematic axes: 1) psychological interventions in the teamwork in the prenatal attendance, ultrasound examination and amniocentesis procedure; and 2) psychological interventions in cases of babies incompatible to the life. The results indicated that the psychologist in this service is essential to work in a multidisciplinary way at the prenatal care for high fetal risk pregnancies. Furthermore, the resident's preceptorship is relevant to their education and training for professional performance in the field of Perinatal Psychology.(AU)

Con los avances tecnológicos y la mejora de la práctica médica a través de la ecografía, ya se puede detectar posibles problemas en el feto desde el embarazo. El objetivo de este estudio fue analizar la práctica del psicólogo en el contexto de embarazos de riesgos fetal. Es un estudio cualitativo basado en un relato de experiencia como residente de psicología en el Servicio de Medicina Fetal de la Escuela de Maternidad de la Universidade Federal do Rio de Janeiro (UFRJ). Los registros, realizados en la observación participante y el diario de campo, se analizaron en dos ejes temáticos: 1) intervenciones psicológicas en el trabajo en equipo, en la consulta prenatal, ecografía y los procedimientos de amniocentesis; y 2) intervenciones psicológicas en casos de bebés incompatibles con la vida. Los resultados señalaron como fundamental la presencia del psicólogo en este servicio trabajando de forma multidisciplinar en la atención prenatal en el contexto de embarazos de alto riesgo fetal. Además, la tutela del residente es relevante para su educación y formación para el desempeño profesional en el campo de la Psicología Perinatal.(AU)

Percepção sobre o cuidado à perda gestacional: estudo qualitativo com casais brasileiros / Perceptions on pregnancy loss care: a qualitative study with brazilian couples / Percepción sobre la atención a la pérdida del embarazo: estudio cualitativo con parejas brasileñas

Este artigo analisou a percepção e os sentimentos de casais sobre o atendimento recebido nos serviços de saúde acessados em função de perda gestacional (óbito fetal ante e intraparto). O convite para a pesquisa foi divulgado em mídias sociais (Instagram e Facebook). Dos 66 casais que contataram a equipe, 12 participaram do estudo, cuja coleta de dados ocorreu em 2018. Os casais responderam conjuntamente a uma ficha de dados sociodemográficos e uma entrevista semiestruturada, realizada presencialmente (n=4) ou por videochamada (n=8). Os dados foram gravados em áudio e posteriormente transcritos. A Análise Temática indutiva das entrevistas identificou cinco temas: sentimento de impotência, iatrogenia vivida nos serviços, falta de cuidado em saúde mental, não reconhecimento da perda como evento com consequências emocionais negativas, e características do bom atendimento. Os achados demonstraram situações de violência, comunicação deficitária, desvalorização das perdas precoces, falta de suporte para contato com o bebê falecido e rotinas pouco humanizadas, especialmente durante a internação após a perda. Para aprimorar a assistência às famílias enlutadas, sugere-se qualificação profissional, ampliação da visibilidade do tema entre diferentes atores e reorganização dos serviços, considerando uma diretriz clínica para atenção ao luto perinatal, com destaque para o fortalecimento da inserção de equipes de saúde mental no contexto hospitalar.(AU)

This study analyzed couples' perceptions and feelings about pregnancy loss care (ante and intrapartum fetal death). A research invitation was published on social media (Instagram and Facebook) and data collection took place in 2018. Of the 66 couples who contacted the research team, 12 participated in the study by filling a sociodemographic questionnaire and answering a semi-structured interview in person (n=04) or by video call (n=08). All interviews were audio recorded, transcribed, and examined by Inductive Thematic Analysis, which identified five themes: feelings of impotence, iatrogenic experiences in health services, lack of mental health care, not recognizing pregnancy loss as an emotionally overwhelming event, and aspects of good healthcare. Analysis showed experiences of violence, poor communication, devaluation of early losses, lack of support for contact with the deceased baby, and dehumanizing routines, especially during hospitalization after loss. Professional qualification, extended pregnancy loss visibility among different stakeholders, and reorganization of health services are needed to improve the care offered to grieving families, considering a clinical guideline for perinatal grief care with emphasis on strengthening the insertion of mental health teams in the hospital context.(AU)

Este estudio analizó las percepciones y sentimientos de parejas sobre la atención recibida en los servicios de salud a los que accedieron debido a la pérdida del embarazo (muerte fetal ante e intraparto). La invitación al estudio se publicó en las redes sociales (Instagram y Facebook). De las 66 parejas que se contactaron con el equipo, 12 participaron en el estudio, cuya recolección de datos se realizó en 2018. Las parejas respondieron un formulario de datos sociodemográficos y realizaron una entrevista semiestructurada presencialmente (n=4) o por videollamada (n=08). Los datos se grabaron en audio para su posterior transcripción. El análisis temático inductivo identificó cinco temas: Sentimiento de impotencia, experiencias iatrogénicas en los servicios, falta de atención a la salud mental, falta de reconocimiento de la pérdida como un evento con consecuencias emocionales negativas y características de buena atención. Los hallazgos evidenciaron situaciones de violencia, comunicación deficiente, desvalorización de las pérdidas tempranas, falta de apoyo para el contacto con el bebé fallecido y rutinas poco humanizadas, especialmente durante la hospitalización tras la pérdida. Para mejorar la atención a las familias en duelo, se sugiere capacitación profesional, ampliación de la visibilidad del tema entre los diferentes actores y reorganización de los servicios, teniendo en cuenta una guía clínica para la atención del duelo perinatal, enfocada en fortalecer la inserción de los equipos de salud mental en el contexto hospitalario.(AU)

Atuação da psicologia em unidade neonatal no contexto da pandemia da covid-19 / The work of psychology in a neonatal unit in the covid-19 pandemic / Actuación de la psicología en una unidad neonatal en el contexto de la pandemia de la covid-19

A pandemia de covid-19 provocou intensas mudanças no contexto do cuidado neonatal, exigindo dos profissionais de saúde a reformulação de práticas e o desenvolvimento de novas estratégias para a manutenção da atenção integral e humanizada ao recém-nascido. O objetivo deste artigo é relatar a atuação da Psicologia nas Unidades Neonatais de um hospital público de Fortaleza (CE), Brasil, durante o período de distanciamento físico da pandemia de covid-19. Trata-se de estudo descritivo, do tipo relato de experiência, que ocorreu no período de março a agosto de 2020. No contexto pandêmico, o serviço de Psicologia desenvolveu novas condutas assistenciais para atender às demandas emergentes do momento, como: atendimento remoto; registro e envio on-line de imagens do recém-nascido a seus familiares; visitas virtuais; e reprodução de mensagens de áudio da família para o neonato. Apesar dos desafios encontrados, as ações contribuíram para a manutenção do cuidado centrado no recém-nascido e sua família, o que demonstra a potencialidade do fazer psicológico.(AU)

The COVID-19 pandemic brought intense changes to neonatal care and required health professionals to reformulate practices and develop new strategies to ensure comprehensive and humanized care for newborn. This study aims to report the experience of the Psychology Service in the Neonatal Units of a public hospital in Fortaleza, in the state of Ceará, Brazil, during the social distancing period of the COVID-19 pandemic. This descriptive experience report study was conducted from March to August 2020. During the pandemic, the Psychology Service developed new care practices to meet the emerging demands of that moment, such as remote care, recordings and online submission of newborns' pictures and video images for their family, virtual tours, and reproduction of family audio messages for the newborns. Despite the challenges, the actions contributed to the maintenance of a care that is centered on the newborns and their families, which shows the potential of psychological practices.(AU)

La pandemia de la COVID-19 ha traído cambios intensos en el contexto de la atención neonatal, que requieren de los profesionales de la salud una reformulación de sus prácticas y el desarrollo de nuevas estrategias para asegurar una atención integral y humanizada al recién nacido. El objetivo de este artículo es reportar la experiencia del Servicio de Psicología en las Unidades Neonatales de un hospital público de Fortaleza, en Ceará, Brasil, durante el periodo de distanciamiento físico en la pandemia de la COVID-19. Se trata de un estudio descriptivo, un reporte de experiencia, que se llevó a cabo de marzo a agosto de 2020. En el contexto pandémico, el servicio de Psicología desarrolló nuevas conductas asistenciales para atender a las demandas emergentes del momento, tales como: atención remota; grabación y envío em línea de imágenes del recién nacido; visitas virtuales; y reproducción de mensajes de audio de la familia para el recién nacido. A pesar de los desafíos encontrados, las acciones contribuyeron al mantenimiento de la atención centrada en el recién nacido y su familia, lo que demuestra el potencial de la práctica psicológica.(AU)

Hopes expressed in birth plans by women diagnosed with fetal anomalies: a qualitative study in Japan.

BACKGROUND: Recent advances in prenatal screening and diagnosis have resulted in an increasing number of women receiving a diagnosis of fetal anomalies. In this study, we aimed to clarify the hopes for childbirth and parenting of women diagnosed with fetal anomalies and to suggest a family-centered care tailored for this situation in perinatal settings. METHODS: A descriptive qualitative study was performed. We recruited women diagnosed with fetal anomalies who were over 22 years old, beyond 22 weeks of gestation, and had scheduled pregnancy and delivery management at a tertiary perinatal medical center specializing in neonatal and pediatric care in a metropolitan area of Japan from April 2019 to December 2019. Women who were willing to participate received support from a midwife to create birth plans. Data were collected from the documented birth plans submitted by 24 women and analyzed using content analysis. RESULTS: We identified three themes of women's hopes based on the descriptions of the submitted birth plans: (1) Hopes as women who are expecting childbirth, (2) Hopes as mothers of a baby, (3) Hopes of being involved in the family needs. Several distinctive hopes were clarified in the context of the women's challenging situations. In describing their hopes, the women were neither overoptimistic or overstated their actual situations, nor caused embarrassment to the healthcare providers. The importance of supporting their involvement in baby matters in the way each family wants also emerged. However, several barriers to fulfilling the women's hopes were identified including the babies' conditions and hospital regulations against family visits or presence. CONCLUSION: All three themes identified in the study provide important insights for analyzing more deeply ways of implementing a family-centered care for women diagnosed with fetal anomalies in perinatal settings. To improve women's engagement in decision-making as a team member, women's hopes should be treated with dignity and respect, and included in the perinatal care of women with abnormal fetuses. Further research is needed to improve the inclusion of women's hopes in their care in clinical settings. TRIAL REGISTRATION: UMIN Clinical Trials Registry: UMIN000033622 (First registration date: 03/08/2018).

Could ultrasound midwifery training increase antenatal detection of congenital anomalies in Ghana?

BACKGROUND: As part of World Health Organization (WHO) 2016 updated antenatal care (ANC) guidelines routine ultrasonography is recommended, including to detect congenital anomalies. The Ghana Health Service (GHS) developed an in-service midwifery ultrasound training course in 2017, which includes fetal anomaly detection. Training rollout has been very limited. We sought to determine proportions of anomalies among neonates presenting to Tamale Teaching Hospital (TTH) that should be prenatally detectable by course-trained midwives in order to determine training program potential utility. METHODS: We analyzed data from a registry of neonates admitted to TTH with congenital anomaly diagnoses in 2016. We classified ultrasonographic detectability of anomalies at ≤13 and 14-23 weeks gestation, based on GHS course content and literature review. Secondary analysis included 2011-2015 retrospective chart review data. RESULTS: Eighty-five neonates with congenital anomalies were admitted to TTH in 2016. Seventy-three (86%) mothers received ≥1 ANC visit; 47 (55%) had at least one prenatal ultrasound, but only three (6%) were interpreted as abnormal. Sixteen (19%) and 26 (31%) of the anomalies should be readily detectable by course-trained midwives at ≤13 and 14-23 weeks gestation, respectively. When the 161 anomalies from 2011-2015 were also analyzed, 52 (21%) and 105 (43%) should be readily detectable at ≤13 and 14-23 weeks gestation, respectively. "Optimal conditions" (state-of-the-art equipment by ultrasonography-trained physicians) should readily identify 53 (22%) and 115 (47%) of the anomalies at ≤13 and 14-23 weeks gestation, respectively. CONCLUSION: Training Ghanaian midwives could substantially increase second trimester anomaly detection, potentially at proportions nearing highly resourced settings. Our data also highlight the need for refinement of the WHO antenatal ultrasonography recommendation for a scan before 24 weeks gestation for multiple purposes. Gestational dating accuracy requires first trimester scanning while fetal anomaly detection is more accurate during second trimester. Further specification will enhance guideline utility.

Cuidado espiritual à mãe de bebê com malformação à luz da Teoria Watson: compreensão de enfermeiras / Cuidado espiritual para la madre de un bebé con malformación a la luz de la Teoría de / Spiritual care for mothers of babies with malformation in the light of Watson's theory: the nurses' understanding

Resumo Objetivos investigar a compreensão de enfermeiras assistenciais sobre espiritualidade; analisar o cuidado espiritual prestado pelas enfermeiras à mãe de bebê com malformação, à luz da Teoria de Jean Watson. Método abordagem qualitativa, implementando a entrevista semiestruturada com 11 enfermeiras de uma maternidade de referência no município de João Pessoa (PB). Os dados foram analisados a partir da técnica da análise de conteúdo proposta por Bardin. Resultados emergiram duas categorias: compreensão de enfermeiras sobre espiritualidade e cuidado espiritual; cuidado espiritual prestado pelas enfermeiras às mães de bebês com malformação congênita, na perspectiva da Teoria de Jean Watson. As profissionais utilizam, empiricamente, elementos do Processo Clinical Caritas-Veritas. Conclusão e implicações para a prática as enfermeiras compreendem espiritualidade como algo que norteia e dá sentido à vida, podendo ou não estar relacionada a uma prática religiosa. Reconhecem que o cuidado espiritual auxilia as mães no enfrentamento de problemas.

Resumen Objetivos Investigar la comprensión de enfermeros asistenciales sobre espiritualidad; analizar el cuidado espiritual que prestan las enfermeras a la madre de un bebé con malformación, a la luz de la Teoría de Jean Watson. Método abordaje cualitativo implementando una entrevista semiestructurada con once enfermeras de una maternidad de referencia en la ciudad de João Pessoa (Estado de Paraíba, noreste de Brasil). Los datos se analizaron mediante la técnica de análisis de contenido propuesta por Bardin. Resultados asomaron dos categorías: comprensión del enfermero sobre espiritualidad y cuidado espiritual y el cuidado espiritual ofrecido por los enfermeros a las madres de bebés malformados en la perspectiva de la teoría de Jean Watson. Los profesionales utilizan empíricamente elementos del Proceso Clínico Caritas-Veritas. Conclusión e implicaciones para la práctica Los enfermeros comprenden espiritualidad como algo que orienta y ofrece sentido a la vida, pudiendo o no estar ligada a una práctica religiosa. Reconocen que el cuidado espiritual ofrecido a las madres de bebés malformados las auxilia en el enfrentamiento del problema.

Abstract Objectives to investigate the understanding of nursing assistants on spirituality; to analyze the spiritual care provided by nurses to the mother of a baby with a malformation in the light of Watson's Theory. Method this was a qualitative approach implementing semi-structured interviews with eleven nurses from a reference maternity hospital in the city of João Pessoa (Paraíba State, northeastern Brazil). Data were analyzed using the content analysis technique proposed by Bardin. Results two categories emerged: the nurses' understanding of spirituality and spiritual care and the spiritual care provided by the nurses to the mothers of malformed babies from the perspective of Watson's theory. The professionals empirically use elements of the Caritas-Veritas Clinical Process. Conclusion and implications for the practice the nurses understand spirituality as something that guides and brings meaning to life, whether or not it is linked to religious practice. They recognize that the spiritual care provided to the mothers of malformed babies helps them cope with the problem.

Efficacy of 4.0 mg versus 0.4 mg Folic Acid Supplementation on the Reproductive Outcomes: A Randomized Controlled Trial.

Folic acid (FA) supplementation prevents neural tube defects (NTDs), but the effects on other reproductive outcomes are unclear. While common recommendation is 0.4 mg/day in addition to regular nutrition, the most appropriate dose of FA is still under debate. We investigated the effects of a higher dose of periconception FA on reducing adverse reproductive outcomes. In this multicenter double-blind randomized controlled trial (RCT), 1060 women (aged 18-44 years and planning a pregnancy) were randomly assigned to receive 4.0 mg or 0.4 mg of FA daily. The primary outcome was the occurrence of congenital malformations (CMs). A composite outcome including one or more adverse pregnancy outcomes was also evaluated. A total of 431 women had a natural conception within 1 year. The primary outcome occurred in 8/227 (3.5%) women receiving 4.0 mg FA and 9/204 (4.4%) women receiving 0.4 mg FA (RR 0.80; 95%CI 0.31 to 2.03). The composite outcome occurred in 43/227 (18.9%) women receiving 4.0 mg FA and 75/204 (36.8%) women receiving 0.4 mg FA (RR 0.51; 95%CI 0.40 to 0.68). FA 4.0 mg supplementation was not associated with different occurrence of CMs, compared to FA 0.4 mg supplementation. However, FA 4.0 mg supplementation was associated with lower occurrence of other adverse pregnancy outcomes.

Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.

BACKGROUND: The prevalence of congenital anomalies in newborns in South Korea was 272.9 per 100,000 in 2005, and 314.7 per 100,000 in 2006. In other studies, the prevalence of congenital anomalies in South Korea was equivalent to 286.9 per 10,000 livebirths in 2006, while it was estimated 446.3 per 10,000 births during the period from 2008 to 2014. Several systematic reviews and meta-analyses analyzing the factors contributing to congenital anomalies have been reported, but comprehensive umbrella reviews are lacking. METHODS: We searched PubMed, Google Scholar, Cochrane, and EMBASE databases up to July 1, 2019, for systematic reviews and meta-analyses that investigated the effects of environmental and genetic factors on any type of congenital anomalies. We categorized 8 subgroups of congenital anomalies classified according to the 10th revision of the International Statistical Classification of Diseases (ICD-10). Two researchers independently searched the literature, retrieved the data, and evaluated the quality of each study. RESULTS: We reviewed 66 systematic reviews and meta-analyses that investigated the association between non-genetic or genetic risk factors and congenital anomalies. Overall, 269 associations and 128 associations were considered for environmental and genetic risk factors, respectively. Congenital anomalies based on congenital heart diseases, cleft lip and palate, and others were associated with environmental risk factors based on maternal exposure to environmental exposures (air pollution, toxic chemicals), parental smoking, maternal history (infectious diseases during pregnancy, pregestational and gestational diabetes mellitus, and gestational diabetes mellitus), maternal obesity, maternal drug intake, pregnancy through artificial reproductive technologies, and socioeconomic factors. The association of maternal alcohol or coffee consumption with congenital anomalies was not significant, and maternal folic acid supplementation had a preventive effect on congenital heart defects. Genes or genetic loci associated with congenital anomalies included MTHFR, MTRR and MTR, GATA4, NKX2-5, SRD5A2, CFTR, and 1p22 and 20q12 anomalies. CONCLUSION: This study provides a wide perspective on the distribution of environmental and genetic risk factors of congenital anomalies, thus suggesting future studies and providing health policy implications.

Predictors of congenital anomalies among newborns in Arsi zone public hospitals, Southeast Ethiopia: a case-control study.

BACKGROUND: Congenital anomaly is a partial or complete structural and/or functional defect during intrauterine life. Globally, major congenital anomalies account for 6% of all newborns among which about 94% of cases occurred in developing countries. In spite of its public health importance, very limited studies are reported in Ethiopia, and hardly any study in Arsi Zone. OBJECTIVES: To determine the predictors of congenital anomalies among newborns in Arsi Zone Public Hospitals, Southeast Ethiopia. METHODS: A multi-center institutional-based case-control study was conducted in 418 (105 cases and 313 controls) of newborns in Arsi Zone Public Hospitals. Descriptive analysis, binary and multivariable logistic regressions were implemented. RESULTS: In this study, women who have been drinking alcohol during pregnancy were 3.48 times more prone to have newborns with congenital anomalies than their counterparts (AOR = 3.48; 95% CI: 1.38, 8.74). The likelihood of having a newborn with congenital anomalies was six and four times higher for women who had a maternal illness (AOR = 6.10; 95%CI: 2.39, 15.57) and chewing khat during pregnancy (AOR = 4; 95%CI: 1.49, 10.65), respectively. Moreover, the lack of folic acid supplementation and pesticides during pregnancy were 3.25 and 4.76 times more likely to experience a newborn with congenital anomalies, respectively. CONCLUSION: Alcohol drinking, maternal illness, khat chewing, and chemical exposure during pregnancy had a significant association with the occurrence of congenital anomalies. While, taking folic acid supplements had a protective effect. Health experts and the community should take these factors into consideration and act accordingly.

Short interpregnancy intervals and risks for birth defects: support for the nutritional depletion hypothesis.

BACKGROUND: Research suggests short interpregnancy intervals increase risks for adverse perinatal outcomes, including some birth defects. A hypothesized cause is nutritional depletion, including folic acid (FA). OBJECTIVES: We evaluated associations between short interpregnancy intervals, alone and in combination with FA intake, and the occurrence of select malformations. METHODS: Data were from the National Birth Defects Prevention Study (US case-control, 1997-2011). Participants included multiparous women whose prior pregnancy resulted in live birth. Cases included 8 noncardiac and 6 cardiac defect groups (n = 3219); controls were nonmalformed live-borns (n = 2508). We categorized interpregnancy interval (<6, 6-11, 12-17, and 18-23 mo) and periconceptional FA intake [no FA supplement use and dietary folate equivalents (DFE) <400 µg/d, no FA supplement use and DFE ≥400 µg/d, or any FA supplement use]. We controlled for age, race/ethnicity, income, pregnancy intention, and study center. ORs <0.8 or >1.2 were considered to represent potentially meaningful associations. RESULTS: ORs for <6 compared with 18-23 mo were >1.2 for 4/8 noncardiac and 3/6 cardiac malformations. Among participants with any FA supplement use, ORs comparing <6 with 6-23 mo were <1.2 for most defects. Conversely, most ORs were >1.2 for <6 mo + no FA supplement use and DFE <400 µg/d compared with 6-23 mo + any FA supplement use. Magnitude and precision varied by defect. CONCLUSIONS: Short interpregnancy intervals were associated with a trend of higher risks for several defects, notably in the absence of FA supplement use. To our knowledge, our study is the first to provide preliminary empirical support that these etiologies may be related to shorter interpregnancy intervals and possible nutritional deficiencies. Because FA intake is highly correlated with other nutrients, and because our estimates were generally imprecise, more research with larger sample sizes is needed to better understand the role of FA compared with other nutrients in each defect-specific etiology.

Reducing the Burden of Anemia and Neural Tube Defects in Low- and Middle-Income Countries: An Analysis to Identify Countries with an Immediate Potential to Benefit from Large-Scale Mandatory Fortification of Wheat Flour and Rice.

Using a predetermined set of criteria, including burden of anemia and neural tube defects (NTDs) and an enabling environment for large-scale fortification, this paper identifies 18 low- and middle-income countries with the highest and most immediate potential for large-scale wheat flour and/or rice fortification in terms of health impact and economic benefit. Adequately fortified staples, delivered at estimated coverage rates in these countries, have the potential to avert 72.1 million cases of anemia among non-pregnant women of reproductive age; 51,636 live births associated with folic acid-preventable NTDs (i.e., spina bifida, anencephaly); and 46,378 child deaths associated with NTDs annually. This equates to a 34% reduction in the number of cases of anemia and 38% reduction in the number of NTDs in the 18 countries identified. An estimated 5.4 million disability-adjusted life years (DALYs) could be averted annually, and an economic value of 31.8 billion United States dollars (USD) generated from 1 year of fortification at scale in women and children beneficiaries. This paper presents a missed opportunity and warrants an urgent call to action for the countries identified to potentially avert a significant number of preventable birth defects, anemia, and under-five child mortality and move closer to achieving health equity by 2030 for the Sustainable Development Goals.

Risk factors associated with congenital anomalies among newborns in southwestern Ethiopia: A case-control study.

INTRODUCTION: Human embryo is well protected in the uterus by the embryonic membrane, although teratogens may cause developmental disruptions after maternal exposure to them during early pregnancy. Most of the risk factors contributing to the development of congenital anomalies are uncertain; however, genetic factors, environmental factors and multifactorial inheritance are found to be risk factors. Regardless of their clinical importance, there are little/no studies conducted directly related to predisposing risk factors in southwestern Ethiopia. OBJECTIVE: The study aimed to determine the associated risk factors with congenital anomalies among newborns in southwestern Ethiopia. METHODS: Case-control study was conducted on newborns and their mothers in six purposively selected hospitals in southwestern Ethiopia from May 2016 to May 2018. Data was collected after evaluation of the neonates for the presence of congenital anomalies using the standard pretested checklist. The data was analyzed using SPSS version 25.0. P <0.01 was set as statistically significant. RESULTS: Risk factors such as unidentified medicinal usage in the first three months of pregnancy (AOR = 3.435; 99% CI: 2.012-5.863), exposure to pesticide (AOR = 3.926; 99% CI: 1.266-12.176), passive smoking (AOR = 4.104; 99% CI: 1.892-8.901), surface water as sources of drinking (AOR = 2.073; 99% CI: 1.221-3.519), folic acid supplementation during the early pregnancy (AOR = 0.428; 99% CI: 0.247-0.740) were significantly associated with the congenital anomalies. CONCLUSIONS: In this study, risk factors such as passive smoking, exposure to pesticides, chemicals and use of surface water as a source of drinking during early pregnancy had a significant association with congenital anomalies. There is a need to continuously provide health information for the community on how to prevent and control predisposing risk factors.

First data from the new, unified database of the Hungarian case-control surveillance of congenital abnormalities.

The Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA) is one of the largest case-control data sets of CA-surveillance in the world. We unified all data collected in the HCCSCA between 1980 and 2009 into a new, validated single database that is now open for examination. The details of this unified database are given in this paper. The total number of cases and control newborns is 32,345 and 57,231, respectively. The overall prevalence of CAs recorded in the HCCSCA was 10.7/1000 live-births. Data available for each pregnancy are: CA(s), gender, birth year/month/date, birth weight, gestational age, area of mother's living, maternal age, paternal age, birth order, mother's and father's qualification, employment status and type of employment, mother's marital status, outcome of previous pregnancies, maternal diseases during pregnancy (according to pregnancy months), drug intake during pregnancy (according to pregnancy months), folic acid and/or pregnancy vitamin supplement intake (according to pregnancy months), mother's smoking habits and alcohol consumption patterns. The most frequent anomalies detected were ventricular septal defect (2864), atrial septal defect (1895), polydactyly (1499), hypospadias (1083), and unilateral cleft lip ± palate (961). According to ICD-10, 701 diseases have been found to affect case mothers during pregnancy. Eight hundred and sixteen drugs were identified that had been taken by mothers during pregnancy. The authors are absolutely open for any scientific cooperation based on this database.

Fetal medicine specialist experiences of providing a new service of termination of pregnancy for fatal fetal anomaly: a qualitative study.

OBJECTIVE: To explore fetal medicine specialists' experiences of caring for parents following a diagnosis of fatal fetal anomaly (FFA) during the implementation of termination of pregnancy (TOP) for FFA for the first time. DESIGN: Qualitative study. SETTING: Fetal medicine units in the Republic of Ireland. POPULATION: Ten fetal medicine specialists from five of the six fetal medicine units. METHODS: nvivo 12 assisted in the thematic analysis of semi-structured in-depth face-to-face interviews. MAIN OUTCOME MEASURES: Fetal medicine specialists' experiences of prenatal diagnosis and holistic management of pregnancies complicated by FFA. RESULTS: Four themes were identified: 'not fatal enough', 'interactions with colleagues', 'supporting pregnant women' and 'internal conflict and emotional challenges'. Fetal medicine specialists feared getting an FFA diagnosis incorrect because of media scrutiny and criminal liability associated with the TOP for FFA legislation. Challenges with the ambiguous and 'restrictive' legislation were identified that 'ostracised' severe anomalies. Teamwork was essential to facilitate opportunities for learning and peer support; however, conflict with colleagues was experienced regarding the diagnosis of FFA, the provision of feticide and palliative care to infants born alive following TOP for FFA. Participants reported challenges implementing TOP for FFA, including the absence of institutional support and 'stretched' resources. Fetal medicine specialists experienced internal conflict and a psychological burden providing TOP for FFA, but did so to 'provide full care for women'. CONCLUSIONS: Our study identified challenges regarding the suitability of the Irish legislation for TOP for FFA and its rapid introduction into clinical practice. It illustrates the importance of institutional and peer support, as well as the need for supportive management, in the provision of a new service. TWEETABLE ABSTRACT: The implementation of termination services for fatal fetal anomaly is complex and requires institutional support.

Tubular colonic duplication in an adult patient with long-standing history of constipation and tenesmus

Background Intestinal duplications are rare congenital developmental anomalies with an incidence of 0.005-0.025% of births. They are usually identified before 2 years of age and commonly affect the foregut or mid-/hindgut. However, it is very uncommon for these anomalies, to arise in the colon or present during adulthood. Case presentation Herein, we present a case of a 28-year-old woman with a long-standing history of constipation, tenesmus, and rectal prolapse. Colonoscopy results were normal. An abdominal computed tomography (CT) revealed a diffusely mildly dilated redundant colon, which was prominently stool-filled. The gastrografin enema showed ahaustral mucosal appearance of the sigmoid and descending colon with findings suggestive of tricompartmental pelvic floor prolapse, moderate-size anterior rectocele, and grade 2 sigmoidocele. A laparoscopic exploration was performed, revealing a tubular duplicated colon at the sigmoid level. A sigmoid resection rectopexy was performed. Pathologic examination supported the diagnosis. At 1-month follow-up, the patient was doing well without constipation or rectal prolapse. Conclusions Tubular colonic duplications are very rare in adults but should be considered in the differential diagnosis of chronic constipation refractory to medical therapy. Due to the non-specific manifestations of this entity, it is rather challenging to make an accurate diagnosis pre-operatively. Surgery remains the mainstay of treatment. Some reports suggest that carcinomas are more prone to develop in colonic/rectal duplications than in other GI tract duplications.

Phorbol 12-Myristate 13-Acetate Induced Toxicity Study and the Role of Tangeretin in Abrogating HIF-1α-NF-κB Crosstalk In Vitro and In Vivo.

Phorbol 12-myristate 13-acetate (PMA) is a potent tumor promoter and highly inflammatory in nature. Here, we investigated the toxic effects of PMA on different model system. PMA (10 µg) caused chromosomal aberrations on the Allium cepa root tip and induced mitotic dysfunction. Similarly, PMA caused embryonic and larval deformities and a plummeted survivability rate on zebrafish embryo in a dose-dependent manner. Persistently, PMA treatment on immortalized human keratinocyte human keratinocyte (HaCaT) cells caused massive inflammatory rush at 4 h and a drop in cell survivability at 24 h. Concomitantly, we replicated a cutaneous inflammation similar to human psoriasis induced by PMA. Herein, we used tangeretin (TAN), as an antagonist to counteract the inflammatory response. Results from an in vivo experiment indicated that TAN (10 and 30 mg/kg) significantly inhibited PMA stimulated epidermal hyperplasia and intra-epidermal neutrophilic abscesses. In addition, its treatment effectively neutralized PMA induced elevated reactive oxygen species (ROS) generation on in vitro and in vivo systems, promoting antioxidant response. The association of hypoxia-inducible factor 1-alpha (HIF-1α)-nuclear factor kappa-light-chain-enhancer of activated b cells (NF-κB) crosstalk triggered by PMA enhanced PKCα-ERK1/2-NF-κB pathway; its activation was also significantly counteracted after TAN treatment. Conclusively, we demonstrated TAN inhibited the nuclear translocation of HIF-1α and NF-κB p65. Collectively, TAN treatment ameliorated PMA incited malignant inflammatory response by remodeling the cutaneous microenvironment.