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Carbon monoxide affects early cardiac development in an avian model Birth Defects Res. (IF 2.1) Pub Date : 2024-03-16 Filipa Rombo Matias, Ian Groves, Joshua Durrans, Mari Herigstad
IntroductionCarbon monoxide (CO) is a toxic gas that can be lethal in large doses and may also cause physiological damage in lower doses. Epidemiological studies suggest that CO in lower doses over time may impact on embryo development, in particular cardiac development, however other studies have not observed this association.MethodsHere, we exposed chick embryos in ovo to CO at three different concentrations
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Population‐based surveillance for birth defects potentially related to Zika virus infection including 3‐year mortality and developmental outcomes, and Early Intervention Program service use—New York City, 2016 birth cohort Birth Defects Res. (IF 2.1) Pub Date : 2024-03-13 Katharine H. McVeigh, Tenzin Tseyang, Mary‐Elizabeth Vachon, Aurora Moraes
BackgroundIn response to the 2015–2017 Zika virus outbreak, New York City (NYC) identified and monitored infants with birth defects potentially related to congenital Zika virus.MethodsAdministrative data matches were used to describe the birth characteristics of children born in 2016 meeting screening criteria for birth defects potentially related to congenital Zika virus infection relative to other
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Expanding the Massachusetts Birth Defects Monitoring Program to include additional pregnancy outcomes: Programmatic efforts and impacts on case ascertainment, 2012–2020 Birth Defects Res. (IF 2.1) Pub Date : 2024-03-13 Amy Fothergill, Rebecca F. Liberman, Eirini Nestoridi, Cara T. Mai, Lorraine F. Yeung, Cathleen Higgins, Mahsa M. Yazdy
BackgroundBirth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (<20 weeks gestation) or elective terminations (any gestational age), in addition
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Construction and analysis of a joint diagnostic model of machine learning for cryptorchidism based on single‐cell sequencing Birth Defects Res. (IF 2.1) Pub Date : 2024-03-09 Yuehua Chen, Xiaomeng Zhou, Linghua Ji, Jun Zhao, Hua Xian, Yunzhao Xu, Ziheng Wang, Wenliang Ge
BackgroundCryptorchidism is a condition in which one or both of a baby's testicles do not fully descend into the bottom of the scrotum. Newborns with cryptorchidism are at increased risk of developing infertility later in life. The aim of this study was to develop a novel diagnostic model for cryptorchidism and to identify new biomarkers associated with cryptorchidism.MethodsThe study data were obtained
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A search for factors associated with reduced carbohydrate intake and NTD risk in two population-based studies Birth Defects Res. (IF 2.1) Pub Date : 2024-03-07 Gary M. Shaw, Wei Yang, Kari A. Weber, Andrew F. Olshan, Tania A. Desrosiers
Two population-based case–control studies have reported an increased risk of neural tube defect (NTD)-affected pregnancies among women with low carbohydrate diet in the periconceptional period. Given that only two studies have investigated this association, it is unclear to what degree the findings could be impacted by residual confounding. Here, we further interrogated both studies that observed this
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Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects Birth Defects Res. (IF 2.1) Pub Date : 2024-03-08 Brittany T. Truong, Lomeli C. Shull, Bryan J. Zepeda, Ezra Lencer, Kristin B. Artinger
BackgroundSplit hand/foot malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, PRDM1, that are associated with SHFM phenotypes. One individual
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Update on the impact of voluntary folic acid fortification of corn masa flour on red blood cell folate concentrations—National Health and Nutrition Examination Survey, 2011–March 2020 Birth Defects Res. (IF 2.1) Pub Date : 2024-03-08 Arick Wang, Amy Fothergill, Lorraine F. Yeung, Krista S. Crider, Jennifer L. Williams
BackgroundFolic acid is a micronutrient that is effective at preventing neural tube defects (NTDs). In 2016, the FDA authorized the voluntary fortification of corn masa flour (CMF) with folic acid to reduce disparities in NTDs among infants of women who do not regularly consume other fortified cereal grains, in particular Hispanic women of reproductive age (WRA).MethodsWe analyzed data from the National
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Limb–body wall complex: Literature review and case report Birth Defects Res. (IF 2.1) Pub Date : 2024-03-05 Omar Daniel Cortés‐Enríquez, Claudia Vanessa Tapia‐Fonseca, María Angelina Torres‐Fuentes, Paola Berenice Torres‐Riojas, Laura Patricia Raya‐Garza
IntroductionBody wall anomalies comprise a wide range of malformations. Limb–Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis
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Correlation between COVID‐19 infection and fetal situs inversus Birth Defects Res. (IF 2.1) Pub Date : 2024-03-05 Shuo Qiu, Shuang Wu, Ranran Yin, Bo Wang, Hongying Wu
BackgroundSitus inversus is a rare congenital condition, defined by the mirror‐image transposition of the abdominothoracic organs. It is linked to an increased risk of different disorders, for example, congenital heart defects and primary ciliary dyskinesia. Recently, some reports have been on the increased incidence of situs inversus after the COVID‐19 pandemic.ObjectivesTo investigate the association
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Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017 Birth Defects Res. (IF 2.1) Pub Date : 2024-02-27 Marcia L. Feldkamp, Mark A. Canfield, Sergey Krikov, David Prieto‐Merino, Antonin Šípek, Nathalie LeLong, Emmanuelle Amar, Anke Rissmann, Melinda Csaky‐Szunyogh, Giovanna Tagliabue, Anna Pierini, Miriam Gatt, Jorieke E. H. Bergman, Elena Szabova, Eva Bermejo‐Sánchez, David Tucker, Saeed Dastgiri, María Paz Bidondo, Aurora Canessa, Ignacio Zarante, Paula Hurtado‐Villa, Laura Martinez, Osvaldo M. Mutchinick
BackgroundGastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.MethodsWe analyzed data on births
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Arginase 1 does not affect RNA m6A methylation in mouse fetal lung Birth Defects Res. (IF 2.1) Pub Date : 2024-02-16 Xuesong Sui, Yanyu Sui, Peihua Long, Yifei Wang, Yu Chen, Wenjia Zhai, Lu Gao
Arginase 1 (Arg1) encodes a key enzyme that catalyzes the metabolism of arginine to ornithine and urea. In our recent study, we found that knockdown of Arg1 in the lungs of fetal mice induces apoptosis of epithelial cells and dramatically delays initiation of labor. As the most abundant internal mRNA modification, N6-methyladenosine (m6A) has been found to play important roles in lung development and
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Updated EUROCAT guidelines for classification of cases with congenital anomalies Birth Defects Res. (IF 2.1) Pub Date : 2024-02-16 Jorieke E. H. Bergman, Annie Perraud, Ingeborg Barišić, Agnieszka Kinsner-Ovaskainen, Joan K. Morris, David Tucker, Diana Wellesley, Ester Garne
Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research. This paper presents the updated EUROCAT (European surveillance of congenital anomalies) subgroups of congenital anomalies and the updated
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Prevalence of craniosynostosis in Finland, 1987–2010: A population-based study Birth Defects Res. (IF 2.1) Pub Date : 2024-02-13 Pia Vuola, Niklas Pakkasjärvi, Annukka Ritvanen, Arja Heliövaara, Erkki Tukiainen, Mika Gissler
Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population-based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
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Monochorionic triplet pregnancy complicated by conjoined twins and early twin–twin transfusion syndrome Birth Defects Res. (IF 2.1) Pub Date : 2024-02-16 Juan Carlos Bustos, Helga Vera, Paz Ahumada, Daniel Martin
The condition of monozygotic, monochorionic triplet fetuses with a pair of conjoined twins is extremely rare (close to one in a million births), presents challenges in its management, and with poor prognosis.
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HESI workshop summary: Interpretation of developmental and reproductive toxicity endpoints and the impact on data interpretation of adverse events Birth Defects Res. (IF 2.1) Pub Date : 2024-02-11 M. L. Green, A. Kluever, Connie Chen, S. Dobreniecki, Wendy Halpern, Bethany Hannas, Alan Hoberman, M. E. McNerney, S. Mitchell-Ryan, T. J. Shafer, Steven Van Cruchten, Tacey White
The Health and Environmental Sciences Institute Developmental and Reproductive Toxicology (HESI-DART) group held a hybrid in-person and virtual workshop in Washington, DC, in 2022. The workshop was entitled, “Interpretation of DART in Regulatory Contexts and Frameworks.” There were 154 participants (37 in person and 117 virtual) across 9 countries. The purpose of the workshop was to capture key consensus
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Climate and environmental changes exacerbate health disparities in pregnant people and their offspring. How can we protect women and their babies? Birth Defects Res. (IF 2.1) Pub Date : 2024-02-13 Guillermina Girardi, Andrew A. Bremer
The effects of climate and environmental changes (CEC) are being felt globally and will worsen over the next decade unless significant changes are made on a global level. Climate change is having serious consequences for health, particularly for vulnerable women and their offspring and less resilient individuals in communities with socioeconomic inequalities. To protect human health from CEC effects
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Selenium mitigates methotrexate-induced testicular injury: Insights from male NMRI mice model Birth Defects Res. (IF 2.1) Pub Date : 2024-02-13 Mohammadreza Gholami, Afsaneh Nemati, Azita Alasvand Zarasvand, Abolfazl Zendehdel, Cyrus Jalili, Iraj Rashidi, Kamran Mansouri, Forough Taheri, Vahideh Assadollahi, Elham Gholami
Chemotherapy, particularly with methotrexate (MTX), often elicits testicular toxicity, leading to impaired spermatogenesis and hormone imbalances. This study aimed to investigate the potential protective effects of selenium (Se) against MTX-induced testicular injury.
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Antifungal medication use during early pregnancy and the risk of congenital heart defects in the National Birth Defects Prevention Study, 1997–2011 Birth Defects Res. (IF 2.1) Pub Date : 2024-02-11 Eleni A. Papadopoulos, Meredith M. Howley, Sarah C. Fisher, Alissa R. Van Zutphen, Martha M. Werler, Paul A. Romitti, Marilyn L. Browne
Fungal infections are common among pregnant people. Recent studies suggest positive associations between oral antifungals used to treat fungal infections and congenital heart defects (CHDs).
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Transmission of behavioral and cognitive impairments across generations in rats subjected to prenatal valproic acid exposure Birth Defects Res. (IF 2.1) Pub Date : 2024-02-11 Farahnaz Taheri, Sara Joushi, Khadijeh Esmaeilpour, Mohammad Navid Ebrahimi, Zahra Taherizadeh, Parichehr Taheri, Vahid Sheibani
Autism spectrum disorder (ASD) represents an inheritable neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Numerous studies have underscored the significant roles played by genetic and environmental factors in the etiology of ASD, and these factors are known to perpetuate behavioral impairments across generations.
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A case-control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020 Birth Defects Res. (IF 2.1) Pub Date : 2024-02-11 Esteban Portilla-Rojas, Lina Ramírez, Camilo Moreno, Juliana Lores, Karen Sarmiento, Ignacio Zarante
Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia
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Prenatal exposure to pesticide mixture in Argentina: A pilot study in puerperal women from Santa Fe province Birth Defects Res. (IF 2.1) Pub Date : 2024-02-06 Carlina Leila Colussi, Guillaume Martinez, Jean-Philippe Bellenger, Gisela Laura Poletta, María Fernanda Simoniello
The epidemiological investigation of congenital anomalies (CA) represents a challenge due to the multiplicity of associated risk factors, notably environmental ones. The monitoring of genotoxic effects in different populations is a useful tool in human biomonitoring and has great biological importance in estimating the exposure risks to complex mixtures of chemical substances.
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Public health priorities for gastroschisis: Summary of a meeting sponsored by the Centers for Disease Control and Prevention and the March of Dimes Birth Defects Res. (IF 2.1) Pub Date : 2024-01-19 Naomi K. Tepper, Julia Chowdhury, Cynthia A. Moore, Martha M. Werler, Kathryn Mishkin, Jennita Reefhuis
Gastroschisis has increased worldwide over several decades; however, there are significant gaps in understanding risk factors for development of the defect, particularly those that might be modifiable. Despite advances in survival, little is known about longer-term outcomes for affected individuals.
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Effects of music on cognitive behavioral impairments in both sex of adult rats exposed prenatally to valproic acid Birth Defects Res. (IF 2.1) Pub Date : 2024-01-19 Farahnaz Taheri, Sara Joushi, Lily Mohammadipoor-Ghasemabad, Iman Rad, Khadijeh Esmaeilpour, Vahid Sheibani
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in reciprocal social interactions, deficits in communication, and restrictive and repetitive behaviors and interests. In previous studies, music has been identified as an intervention therapy for children with ASD.
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National population-based estimates for major birth defects, 2016–2020 Birth Defects Res. (IF 2.1) Pub Date : 2024-01-19 Erin B. Stallings, Jennifer L. Isenburg, Rachel E. Rutkowski, Russell S. Kirby, Wendy N. Nembhard, Theresa Sandidge, Stephan Villavicencio, Hoang H. Nguyen, Daria M. McMahon, Eirini Nestoridi, Laura J. Pabst
We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016–2020.
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Reproductive toxicity of JJH201501 in rats: Perinatal study Birth Defects Res. (IF 2.1) Pub Date : 2024-01-19 Menghan Sun, Peng Yue, Hongqun Qiao
In this study, JJH201501 was examined for reproductive toxicity during the perinatal period to support its safety as a novel serotonergic agent (5-HT) antidepressant. Pregnant Sprague–Dawley rats (F0, n = 24/group) were continuously exposed to 0 (control), 6, 18, and 60 mg/kg body weight/day of JJH201501 by intragastric administration from gestation day 15 to lactation day 21.
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Tetralogy of Fallot: Hypoxia, the villain of the story? Birth Defects Res. (IF 2.1) Pub Date : 2024-01-17 Carlos Ariel Bojórquez Martínez, Ingrid Montserrat García Murillo, Santiago Segón Mora, Andrea López Mereles
Tetralogy of Fallot (ToF) is a cyanotic congenital heart disease, composed of four malformations: persistent communication between the right and the left ventricle, pulmonary stenosis, overriding aorta, and right ventricle hypertrophy. The etiology of this disease is not entirely known as yet, but it has been proposed that the pathology has genetic components. During embryonic development, the fetus
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Clinical profiling of pediatric microtia patients: A cross-sectional analysis at a leading pediatric hospital in Ecuador (2015–2022) Birth Defects Res. (IF 2.1) Pub Date : 2024-01-17 Diego Mena Noroña, Walter Díaz Chamba, Susana Rodríguez Santamaria, María Cela Sosa, Lizeth Logacho Carrera, Fabian Arias Rodríguez, Madelaine Alvarez Martinez, Juan S. Izquierdo-Condoy
Microtia is a frequent congenital deformity of the pinna, often with hearing loss. This study reviews the clinical profiles of microtia pediatric patients treated at a referral hospital in Quito, Ecuador, from 2015 to 2022.
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Correlation between essential and toxic elements in maternal blood during early pregnancy and atrial septal defects/ventricular septal defects/patent ductus arteriosus in offspring Birth Defects Res. (IF 2.1) Pub Date : 2024-01-08 Jianli Gu, Zhen Jin, Guiqing Wu, Shaonong Dang, Feng Yao, Zihan Zheng, Lingxuan Ren, Jianjun Yang, Danli Chen, Li Zhang, Rong Lin
Congenital heart defects (CHDs) are the most common congenital malformation in the world. Recent studies have found that essential and toxic trace element levels may play a crucial role in the risk of neonatal malformation. However, the relationships between element levels in early pregnancy and CHD risk among humans remain unclear. This study investigates the association between maternal essential
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Publicly funded healthcare costs associated with orofacial clefts for children born in Alberta, Canada between 2002 and 2018 Birth Defects Res. (IF 2.1) Pub Date : 2024-01-05 Tanya Bedard, R. Brian Lowry, Susan Crawford, Ting (Grace) Wang, Jeffrey Bakal, Amy Metcalfe, A. Robertson Harrop, Xin Grevers, Mary Ann Thomas
Orofacial clefts (OFCs) include cleft palate (CP), cleft lip (CL), and cleft lip with cleft palate (CLP) and require multidisciplinary healthcare services. Alberta, Canada has a publicly funded, universal access healthcare system. This study determined publicly funded healthcare costs for children with an OFC and compared these costs to children without congenital anomalies.
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COL1A1 regulates the apoptosis of embryonic stem cells by mediating the PITX1/TBX4 signaling Birth Defects Res. (IF 2.1) Pub Date : 2023-12-30 Xiangping Du, Xinle Wu, Lirong Yu, Wu Min, Gan Chen, Fadi Liu, Jian Li
The purpose of this study is to explore the regulatory function of COL1A1 against the apoptosis of embryonic stem cells (ESCs) and the potential function in congenital talipes equinovarus (CTEV).
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Outcome of children with multicystic dysplastic kidney: Does involved side matter? Birth Defects Res. (IF 2.1) Pub Date : 2023-12-30 Sevgi Yavuz, Aysel Kıyak, Serdar Sander
Multicystic dysplastic kidney (MCDK) is a common anomaly detected on antenatal ultrasound. We aimed to assess the profile of children with MCDK and to investigate whether the involved side has any effect on outcome.
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Evaluation of gadolinium-based contrast agents in pregnant CD-1 mice and subsequent in utero exposure of the developing offspring, including behavioral evaluations Birth Defects Res. (IF 2.1) Pub Date : 2023-12-29 Elise M. Lewis, Simona Bussi, Nathalie Fretellier, Guenther Clemens, Paul Jones, Fabio Tedoldi, Phillipe Bourrinet, Oliver Czupalla, Ella Hirani, Alan M. Hoberman
The offspring of CD-1 mice exposed during pregnancy to one of seven gadolinium-based contrast agents (GBCAs) were evaluated for potential effects on postnatal development and behavior. The GBCAs, comprising four linear (gadopentetate dimeglumine, gadodiamide, gadobenate dimeglumine, and gadoxetate disodium) and three macrocyclic (gadoterate meglumine, gadoteridol, and gadobutrol), were administered
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Evaluation of gadolinium-based contrast agents in juvenile CD-1 mice including behavioral evaluations Birth Defects Res. (IF 2.1) Pub Date : 2023-12-29 Elise M. Lewis, Paul Jones, Guenther Clemens, Nathalie Fretellier, Simona Bussi, Ella Hirani, Oliver Czupalla, Fabio Tedoldi, Phillipe Bourrinet, Alan M. Hoberman
Seven gadolinium-based contrast agents (GBCAs), four linear and three macrocyclic, were evaluated for potential effects on development, including behavior of juvenile CD-1 mice.
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Factors associated with infant sex and preterm birth status for selected birth defects from the National Birth Defects Prevention Study, 1997–2011 Birth Defects Res. (IF 2.1) Pub Date : 2023-12-28 Eva M. Williford, Wei Yang, Meredith M. Howley, Chen Ma, Ronnie T. Collins, Kari A. Weber, Dominique Heinke, Julie M. Petersen, A. J. Agopian, Natalie P. Archer, Andrew F. Olshan, Lindsay A. Williams, Marilyn L. Browne, Gary M. Shaw
Birth defects and preterm birth co-occur, with some overlapping risk factors. Many birth defects and preterm births tend to have a male preponderance. We explored potential risk factors impacting sex and preterm (<37 weeks of gestation) birth differences among infants with selected birth defects delivered from 1997 to 2011 using data from the National Birth Defects Prevention Study (NBDPS).
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Meta-analysis reveals differential gene expression in tetralogy of Fallot versus controls Birth Defects Res. (IF 2.1) Pub Date : 2023-12-25 Sarah Mae Voskamp, Maya Alexis Hammonds, Thomas M. Knapp, Ashley L. Pekmezian, Dexter Hadley, Jennifer S. Nelson
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect in the United States. We aimed to identify genetic variations associated with TOF using meta-analysis of publicly available digital samples to spotlight targets for prevention, screening, and treatment strategies.
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Incidence of congenital heart disease in fetuses diagnosed with single isolated umbilical artery. Systematic review and meta-analysis Birth Defects Res. (IF 2.1) Pub Date : 2023-12-22 Armicson Felipe Solano M., Herney Andrés García-Perdomo
To estimate the proportion of heart disease in fetuses with a prenatal diagnosis of a single isolated umbilical artery.
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Risk factors and characteristics of the birth of patients with craniofacial microsomia, a case–control study Birth Defects Res. (IF 2.1) Pub Date : 2023-12-21 Ernani Bohrer da Rosa, Jamile Dutra Correia, Daniélle Bernardi Silveira, Mauricio Rouvel Nunes, Merialine Gresele, Miriam Elisa Dallagnol, Marieli Barp Ziliotto, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen
Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM.
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Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review Birth Defects Res. (IF 2.1) Pub Date : 2023-12-20 Caroline Aragón, D'aviyan Robinson, Megan Kocher, Katie Barrick, Lihsia Chen, Heather Zierhut
Congenital hydrocephalus (CH) is a life-threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often unsuccessful, leading to high mortality rates. Causes of CH can range
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Gastrulation-stage alcohol exposure induces similar rates of craniofacial malformations in male and female C57BL/6J mice Birth Defects Res. (IF 2.1) Pub Date : 2023-12-20 Karen E. Boschen, Constance J. Dragicevich, Eric W. Fish, Austin J. Hepperla, Jeremy M. Simon, Scott E. Parnell
Prenatal alcohol exposure during gastrulation (embryonic day [E] 7 in mice, ~3rd week of human pregnancy) impairs eye, facial, and cortical development, recapitulating birth defects characteristic of Fetal Alcohol Syndrome (FAS). However, it is not known whether the prevalence or severity of craniofacial features associated with FAS is affected by biological sex.
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Racial and ethnic differences in infant survival for hydrocephaly—Texas, 1999–2017 Birth Defects Res. (IF 2.1) Pub Date : 2023-12-18 Munir Ahmed, Charles Shumate, Heidi Bojes, Ketki Patel, A. J. Agopian, Mark Canfield
Congenital hydrocephaly, an abnormal accumulation of fluid within the ventricular spaces at birth, can cause disability or death if untreated. Limited information is available about survival of infants born with hydrocephaly in Texas. Therefore, the purpose of the study was to calculate survival estimates among infants born with hydrocephaly without spina bifida in Texas.
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Genetic variants in BCL-2 family genes influence the risk of non-syndromic cleft lip with or without cleft palate Birth Defects Res. (IF 2.1) Pub Date : 2023-12-18 Xing Cui, Guirong Zhu, Minxuan Han, Xiaofeng Li, Shu Lou, Changyue Xing, Shuangbo Xu, Yongchu Pan, Lin Wang
The BCL-2 family is crucial for cell death regulation and is involved in development, tissue homeostasis, and immunity. This study aimed to investigate the association between genetic variants in BCL-2 family genes and non-syndromic cleft lip with or without cleft palate (NSCL/P) risk.
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Usefulness of three vessel-trachea view and parasagittal plan for prenatal diagnosis of interrupted aortic arch Birth Defects Res. (IF 2.1) Pub Date : 2023-12-15 Sidonie Monteiro, Ana Cunha, Diogo Carvalho Sá, Luís Guedes-Martins
Interrupted aortic arch (IAA) is a rare congenital heart disease characterized by loss of continuity between the ascending and the descending aorta. Prenatal diagnosis of IAA by echocardiography is challenging but nonetheless can be accomplished via a systematization of cardiac fetal evaluation.
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Folic acid supplementation in women of childbearing age with epilepsy: No association with type or number of antiepileptic drugs Birth Defects Res. (IF 2.1) Pub Date : 2023-12-13 Revital Gandelman-Marton, Jacques Theitler
For over two decades, a daily folic acid (FA) supplementation has been recommended for women of childbearing age with epilepsy. This recommendation is based on evidence that FA administration before conception and during pregnancy can decrease the risk of fetal malformations in the general population, improve cognitive development, and reduce the risk of autistic traits in children exposed in utero
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Fever and antibiotic use in maternal urinary tract infections during pregnancy and risk of congenital heart defects: Findings from the National Birth Defects Prevention Study Birth Defects Res. (IF 2.1) Pub Date : 2023-12-13 Jenil Patel, Maria D. Politis, Meredith M. Howley, Marilyn L. Browne, Elijah H. Bolin, Elizabeth C. Ailes, Candice Y. Johnson, Everett Magann, Wendy N. Nembhard
Previous studies report an association between prenatal maternal urinary tract infections (UTI) and specific congenital heart defects (CHDs); however, the role of fever and antibiotic use on this association is poorly understood. Using data from the National Birth Defects Prevention Study, we examined whether the relationship between maternal UTIs during the periconceptional period and occurrence of
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CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case Birth Defects Res. (IF 2.1) Pub Date : 2023-12-12 Tutku Soyer, Özlem Boybeyi, Beren Karaosmanoğlu, Ekim Taşkıran, Özlem Pelin Şimşek, Gülen Eda Utine
The familial occurrence of esophageal atresia and tracheoesophageal fistula (EA-TEF) is very rare and the genetic basis behind the isolated familial cases have not been identified. A male infant born with EA-TEF and his affected father were evaluated with whole genome sequence to define a genetic causative variation in paternally inherited EA-TEF.
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Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility study Birth Defects Res. (IF 2.1) Pub Date : 2023-12-12 Neerja Gupta, Nitika Langeh, Aparna Sharma, Asit Mridha, Manisha Jana, Adarsh Barwad, Kalaivani Mani, Vatsla Dadhwal, Atin Kumar, Dipika Deka, Madhulika Kabra
Minimally invasive autopsy (MIA) using post-mortem magnetic resonance imaging with ancillary investigations is reported as accurate as conventional autopsy. This study assesses MIA's feasibility and accuracy compared to conventional autopsy.
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A critical look at adjusted fetal weights in rats Birth Defects Res. (IF 2.1) Pub Date : 2023-12-08 L. David Wise, John M. DeSesso
A new derived (i.e., calculated) endpoint of developmental toxicology has appeared in a very few studies since 1990. This endpoint is adjusted mean live fetal weight per litter or adjusted fetal weight. Given our lack of familiarity with the endpoint, we evaluated the basis, prevalence, methods, and usefulness in embryo-fetal developmental toxicity (EFDT) studies in rats.
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Prevalence of congenital anomalies according to maternal race and ethnicity, Texas, 1999–2018 Birth Defects Res. (IF 2.1) Pub Date : 2023-11-28 Jeremy M. Schraw, Elwin Jaime, Charles J. Shumate, Mark A. Canfield, Philip J. Lupo
Few studies of congenital anomalies provide prevalence estimates stratified by maternal race/ethnicity. We sought to determine whether the prevalence of a broad spectrum of anomalies varies among offspring of women from different race/ethnic groups.
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A systematic review and meta-analysis of school and cognitive function domains of health-related quality of life measures for children and young adults with congenital heart disease Birth Defects Res. (IF 2.1) Pub Date : 2023-11-28 Chrysovalanto Mamasoula, Lindsay Pennington, Adenike Motunrayo Adesanya, Judith Rankin
Research on cognitive and school functioning domains of health-related quality of life (HRQOL) for children and adolescents with congenital heart disease (CHD) presents inconsistencies.
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A comparison of infants' birth defects self-reported by mothers with data provided by general practitioners: Data from the Dutch Pregnancy Drug Register Birth Defects Res. (IF 2.1) Pub Date : 2023-11-23 Veronique Y. F. Maas, Ellen G. T. Ederveen, Yrea R. J. van Rijt-Weetink, Petra J. Woestenberg, Jorieke E. H. Bergman, Maartje Conijn
Since the presence of a birth defect is often a primary outcome in drug-safety studies among pregnant women, researching the validity of data collection methods is imperative. The aim of this study is to compare self-reported birth defects in infants by mothers with the information provided by general practitioners (GP (singular) or GPs (plural)).
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The miR-17-92 cluster in cardiac health and disease Birth Defects Res. (IF 2.1) Pub Date : 2023-11-20 Yuhan Cao, Mingjie Zheng, Maham A. Sewani, Jun Wang
MicroRNAs (miRs) are small noncoding RNAs that play important roles in both physiological and pathological processes through post-transcriptional regulation. The miR-17-92 cluster includes six individual members: miR-17, miR-18a, miR-19a, miR-19b-1, miR-20a, and miR-92a-1. The miR-17-92 cluster has been extensively studied and reported to broadly function in cancer biology, immunology, neurology, pulmonology
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Epigenetic regulation of craniofacial development and disease Birth Defects Res. (IF 2.1) Pub Date : 2023-11-14 Lomeli C. Shull, Kristin B. Artinger
The formation of the craniofacial complex relies on proper neural crest development. The gene regulatory networks (GRNs) and signaling pathways orchestrating this process have been extensively studied. These GRNs and signaling cascades are tightly regulated as alterations to any stage of neural crest development can lead to common congenital birth defects, including multiple syndromes affecting facial
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Birth outcomes following in utero co-exposure to tobacco and marijuana Birth Defects Res. (IF 2.1) Pub Date : 2023-11-10 Madison L. Waddell, Samantha A. Dickson, Phoebe A. Dodge, Haley E. Kopkau, Katherine N. Nadolski, Victoria Zablocki, Kaya M. Forrestal, Beth A. Bailey
With recent changes in tobacco and marijuana use patterns, it becomes crucial to understand how the prenatal co-use of these substances impacts birth outcomes. The goal of this study was to examine the risk of adverse birth outcomes among infants born to women who used tobacco and marijuana concurrently throughout pregnancy compared to infants of women who used tobacco alone.
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Retrospective analysis of neurological findings in esophageal atresia: Allostatic load of disease complexity, cumulative sedation, and anesthesia exposure Birth Defects Res. (IF 2.1) Pub Date : 2023-11-07 Maggie Jean McMahon, Devon Michael Evanovich, Danielle Bennet Pier, Mackenzie Shea Kagan, Jue Teresa Wang, Benjamin Zendejas, Russell William Jennings, David Zurakowski, Dusica Bajic
There is limited knowledge regarding the impact of perioperative critical care on frequency of neurological imaging findings following esophageal atresia (EA) repair.
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Impact of training on awareness and Knowledge of Birth Defects among Community Health Workers in tribal district of Maharashtra, India Birth Defects Res. (IF 2.1) Pub Date : 2023-11-07 Suchitra Surve, Ragini Kulkarni, Priyanka Gawai, Neha Salvi, Shahina Begum, Sanjay Bodade, Dayanand Suryawanshi, Milind Chavan, Ujwal Pachalkar, Pradeep Pagi, Sanjay Chauhan
Early identification, referrals and timely treatment is crucial to improve the outcome of Birth Defects (BDs). The role of Community Health Workers (CHWs) in India is largely fulfilled by Accredited Social Health Activists (ASHAs) who can play an important role in community-based reporting and referrals of BDs in newborn. In the study area, ASHAs have been previously trained for identification of BDs
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Validation of ICD-9-CM codes for major genitourinary birth defects in Military Health System administrative data, 2006–2014 Birth Defects Res. (IF 2.1) Pub Date : 2023-11-07 Celeste J. Romano, Sandra M. Magallon, Clinton Hall, Anna T. Bukowinski, Gia R. Gumbs, Ava Marie S. Conlin
The Department of Defense Birth and Infant Health Research program is dedicated to birth defects research and surveillance among military families. Here, we assess and refine the validity of International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes for selected genitourinary birth defects in the Military Health System (MHS). We additionally outline methods for
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Leveraging automated approaches to categorize birth defects from abstracted birth hospitalization data Birth Defects Res. (IF 2.1) Pub Date : 2023-11-06 Suzanne M. Newton, Samantha Distler, Kate R. Woodworth, Daniel Chang, Nicole M. Roth, Amy Board, Hailee Hutcherson, Janet D. Cragan, Suzanne M. Gilboa, Van T. Tong
The Surveillance for Emerging Threats to Pregnant People and Infants Network (SET-NET) collects data abstracted from medical records and birth defects registries on pregnant people and their infants to understand outcomes associated with prenatal exposures. We developed an automated process to categorize possible birth defects for prenatal COVID-19, hepatitis C, and syphilis surveillance. By employing
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Risk of birth defects in pregnant persons with sleep-disordered breathing during pregnancy Birth Defects Res. (IF 2.1) Pub Date : 2023-11-06 Katherine Pressman, Anthony M. Kendle, Tara M. Randis, Keyur Donda, Jason L. Salemi, Judette M. Louis
As many as one in four pregnant women may experience sleep-disordered breathing (SDB) during pregnancy. The same sequelae of SDB, such as insulin resistance and inflammation, have been implicated in the development of certain birth defects.
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An epidemiologic study of penoscrotal transposition by maternal characteristics using data from the Texas birth defects registry Birth Defects Res. (IF 2.1) Pub Date : 2023-11-06 Rachel P. Allred, Joanne Nguyen, A. J. Agopian, Mark A. Canfield, Charles J. Shumate
Penoscrotal transposition (PST) is an uncommon urogenital malformation in which the penis is mal-positioned to be inferior to the scrotum. The purpose of this study was to explore PST risk by maternal characteristics and to describe co-occurring congenital abnormalities in the Texas Birth Defects Registry (TBDR).