Article
Medicine, General & Internal
Jing Dong, Lin-Liang Yin, Xue-Dong Deng, Chun-Ya Ji, Qi Pan, Zhong Yang, Ting Peng, Jiang-Nan Wu
Summary: Early supplementation of folic acid (FA) during pregnancy reduces the risk of congenital malformations, especially heart defects. Starting FA supplementation 1.5 months before conception and continuing for 4 months is the optimal option for prevention of congenital malformations.
Article
Public, Environmental & Occupational Health
Vijaya Kancherla, Lorenzo D. Botto, Laura A. Rowe, Nathan A. Shlobin, Adrian Caceres, Anastasia Arynchyna-Smith, Kathrin Zimmerman, Jeffrey Blount, Zewdie Kibruyisfaw, Kemel A. Ghotme, Santosh Karmarkar, Graham Fieggen, Sylvia Roozen, Godfrey P. Oakley, Gail Rosseau, Robert J. Berry
Summary: Mandatory fortification with folic acid is a safe and effective intervention to prevent spina bifida and anencephaly, but its implementation is limited globally. Urgent action is needed to pass a resolution for universal mandatory fortification to accelerate prevention efforts and achieve the Sustainable Development Goals by 2030.
LANCET GLOBAL HEALTH
(2022)
Article
Public, Environmental & Occupational Health
Xingdi Yang, Jianjuan Zeng, Yiping Gu, Yiming Fang, Caiyun Wei, Shengkui Tan, Xiaoying Zhang
Summary: This hospital-based study in Guilin, China, aimed to determine the prevalence of birth defects in the region and classify them based on clinical presentation and causation. Of the 147,817 births recorded, 2,003 infants were diagnosed with BDs, with a total prevalence rate of 13.55 per 1,000 births. The study found that congenital heart defects, polydactyly, syndactyly, malformations of the external ear, and talipes equinovarus were the most common BD types.
FRONTIERS IN PUBLIC HEALTH
(2022)
Review
Veterinary Sciences
Aris Pourlis, Georgios I. Papakonstantinou, Dimitrios Doukas, Vasileios G. Papatsiros
Summary: This study investigated congenital malformations in pigs associated with anomalous twinning. The most common defect among the recorded conjoined twins was syncephalus thoracopagus or cephalothoracopagus. The pathogenetic mechanisms of this disease, which is common in veterinary practice, are discussed. The importance of embryonic conjoined twins is frequently associated with dystocia.
VETERINARY SCIENCES
(2023)
Review
Multidisciplinary Sciences
Gal Rubin, Catherine Stewart, Laura McGowan, Jayne V. Woodside, Geraldine Barrett, Keith M. Godfrey, Jennifer Hall
Summary: Insufficient evidence exists for a relationship between folic acid supplementation and ankyloglossia. Currently, the benefits of folic acid supplementation far outweigh the risks. This must be clearly communicated to patients by their clinicians during preconception and antenatal care.
Review
Biochemistry & Molecular Biology
Xiuwei Wang, Jialu Yu, Jianhua Wang
Summary: Neural tube defects (NTDs) are complex congenital malformations that occur due to failure of neural tube closure during embryogenesis. Folate deficiency has been identified as a contributing factor to NTDs, but the specific mechanism is still unclear. Folate deficiency not only affects DNA methylation but also disrupts the synthesis of dTMP and results in genomic instabilities. DNA repair pathways play a crucial role in maintaining DNA synthesis, genomic stability, and embryonic neural development. Understanding the relationship between folate deficiency, DNA repair pathways, and NTDs can provide insights into the pathogenesis of NTDs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Environmental Sciences
Meiru Wang, Martin Rucklin, Robert E. Poelmann, Carmen L. de Mooij, Marjolein Fokkema, Gerda E. M. Lamers, Merijn A. G. de Bakker, Ernest Chin, Lilla J. Bakos, Federica Marone, Bert J. Wisse, Marco C. de Ruiter, Shixiong Cheng, Luthfi Nurhidayat, Martina G. Vijver, Michael K. Richardson
Summary: In this study, the researchers investigated the effects of polystyrene nanoparticles on chicken embryos. They found that these nanoparticles could cross the gut wall and distribute to multiple organs in the embryo. The exposure to polystyrene nanoparticles resulted in severe malformations, including congenital heart defects, by selectively binding to neural crest cells.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Medicine, General & Internal
Haneesha Mohan, Monica Guzman Lenis, Evelyn Y. Laurette, Oscar Tejada, Tanvi Sanghvi, Kit-Yi Leung, Lindsay S. Cahill, John G. Sled, Paul Delgado-Olguin, Nicholas D. E. Greene, Andrew J. Copp, Lena Serghides
Summary: DTG at therapeutic doses may increase the risk of fetal defects, especially NTDs, while the relationship between DTG at subtherapeutic doses and fetal anomalies is unclear.
Article
Medicine, General & Internal
Lizhu Chen, Yun Xiu, Qijun Wu, Yu Wang, Yixin Zhang, Jia Xue, Qinbo Wang, Zhengwei Yuan
Summary: This study found that maternal serum LMNA may serve as a potential biomarker for prenatal diagnosis of fetal CHD, NTD, and PE.
Review
Health Care Sciences & Services
Ahmad K. Almekkawi, Marwa W. AlJardali, Hicham M. Daadaa, Alison L. Lane, Ashley R. Worner, Mohammad A. Karim, Adrienne C. Scheck, Richard E. Frye
Summary: Neural tube defects (NTDs) are congenital abnormalities in the central nervous system. SNPs in the folate pathway genes MTHFR, MTRR, and RFC are highly associated with NTD risk, especially in the Asian population. Further high-quality research from diverse ethnicities is needed to gain a more comprehensive understanding of the role of folate metabolism in NTDs.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biology
Xiaoyu Che, Jufen Liu, Gabriel L. Galea, Yali Zhang, Nicholas D. E. Greene, Le Zhang, Lei Jin, Linlin Wang, Aiguo Ren, Zhiwen Li
Summary: Neural tube defects are severe congenital malformations, and folic acid supplementation can reduce their prevalence in northern China. The presence of comorbid malformations suggests a shared etiology.
Review
Biochemistry & Molecular Biology
Jasmina Isakovic, Iva Simunic, Denis Jagecic, Valentina Hribljan, Dinko Mitrecic
Summary: Neural tube defects (NTDs) are the second most common congenital malformations of humans, with genetic and environmental risk factors playing important roles. Prevention includes folic acid fortification and inositol supplementation, while treatment approaches vary depending on developmental stage and lesion location.
Article
Multidisciplinary Sciences
Molla Taye
Summary: The study revealed differences in parents' knowledge and beliefs about congenital malformations and their causes, with some being traditional beliefs while others are related to modern lifestyle factors. The findings highlight the challenges and impacts of congenital malformations on parents and their children, providing valuable information for designing preventive actions.
Article
Veterinary Sciences
Marina Vilela Estevam, Samara Beretta, Nathalia F. Smargiassi, Maricy Apparicio, Gilson Helio Toniollo, Gener T. Pereira
Summary: The popularity of brachycephalic dogs has increased due to their temperament and unique features. However, the inbreeding and lack of genetic diversity in these breeds have led to an increase in the occurrence of malformations. This study found a high incidence of malformations in brachycephalic dogs, with cleft palate and anasarca being the most common types. Older bitches were more likely to give birth to malformed puppies. Brachycephalic breeds were more prone to malformations compared to other breeds, especially modern brachycephalic. The presence of malformed puppies in a litter causes suffering, highlighting the importance of veterinarians in preventing and treating these conditions.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Pediatrics
Kathryn Ford, Maria Peppa, Ania Zylbersztejn, Joe Curry, Ruth Gilbert
Summary: The study aims to determine the birth prevalence, maternal risk factors, and 5-year survival for isolated and complex anorectal malformations. The research found that complex anorectal malformations were associated with maternal age extremes and had lower 5-year survival rates, especially for preterm infants.
ARCHIVES OF DISEASE IN CHILDHOOD
(2022)
Article
Developmental Biology
Bo Yu, Chiyuan Amy Zhang, Shufeng Li, Tony Chen, Evan Mulloy, Gary M. Shaw, Michael L. Eisenberg
Summary: This study investigated the association between preconception paternal health and birth defects in offspring. The results showed that infants born to fathers with metabolic syndrome were more likely to have cardiac and respiratory defects.
BIRTH DEFECTS RESEARCH
(2023)
Article
Developmental Biology
Jonas G. Miller, Mahnoor Hyat, Susan B. Perlman, Ronald J. Wong, Gary M. Shaw, David K. Stevenson, Ian H. Gotlib
Summary: Exposure to adversity has negative effects on cognitive, behavioral, and mental health, and may even be transmitted across generations. Research shows that maternal exposure to adversity, including prior to childbirth, is related to offspring biobehavioral development. A study on preschool-age children found that maternal adversity was associated with brain activation during inhibitory control, which in turn affected children's emotions and self-control.
DEVELOPMENTAL PSYCHOBIOLOGY
(2023)
Article
Environmental Sciences
Kari A. Weber, Wei Yang, Suzan L. Carmichael, R. Thomas Collins, Thomas J. Luben, Tania A. Desrosiers, Tabassum Z. Insaf, Mimi T. Le, Shannon Pruitt Evans, Paul A. Romitti, Mahsa M. Yazdy, Wendy N. Nembhard, Gary M. Shaw
Summary: This study examined the association between maternal residential proximity to greenspace and structural birth defects. The results showed that living closer to greenspace during pregnancy is associated with a reduced risk of certain birth defects, especially among those living in rural or high-income neighborhoods.
ENVIRONMENTAL RESEARCH
(2023)
Article
Andrology
Tony Chen, Chiyuan A. Zhang, Shufeng Li, Alan R. Schroeder, Gary M. Shaw, Michael L. Eisenberg
Summary: This study examined the association between preconception paternal metabolic syndrome status and childhood emergency department visits and hospitalizations. The results showed that the father's preconception metabolic syndrome history is associated with an increased risk of emergency department visits and hospitalizations for the child after birth.
Article
Public, Environmental & Occupational Health
Dayna A. Neo, Tania L. Desrosiers, Chantel L. Martin, Suzan Carmichael, Muge M. Gucsavas-Calikoglu, Kristin Conway, Shannon Pruitt L. Evans, Marcia M. Feldkamp, Suzanne Z. Gilboa, Tabassum I. Insaf, Fadi M. Musfee, Gary J. Shaw, Charles M. Shumate, Martha F. Werler, Andrew Olshan
Summary: This study explores the association between neighborhood-level socioeconomic position during early pregnancy and the risk of gastroschisis, a common birth defect. The results suggest that mothers residing in moderate or low socioeconomic neighborhoods are more likely to have infants with gastroschisis compared to those residing in high socioeconomic neighborhoods.
Correction
Pediatrics
Nicholas Crawford, D'Arcy Prendergast, John W. Oehlert, Gary M. Shaw, David K. Stevenson, Nadav Rappaport, Marina Sirota, Sarah A. Tishkoff, Neal Sondheimer
JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Kelsey Robinson, Trenell J. Mosley, Kenneth S. Rivera-Gonzalez, Christopher R. Jabbarpour, Sarah W. Curtis, Wasiu Lanre Adeyemo, Terri H. Beaty, Azeez Butali, Carmen J. Buxo, David J. Cutler, Michael P. Epstein, Lord J. J. Gowans, Jacqueline T. Hecht, Jeffrey C. Murray, Gary M. Shaw, Lina Moreno Uribe, Seth M. Weinberg, Harrison Brand, Mary L. Marazita, Robert J. Lipinski, Elizabeth J. Leslie
Summary: Cleft palate is a common craniofacial birth defect, but there is limited understanding of its genetic risk factors. Through a genome-wide association study, we identified a significant genetic locus associated with cleft hard palate, as well as additional loci suggestive of association. This study provides important insights into the risk and subtype-specific risks of cleft palate.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)
Article
Genetics & Heredity
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect with unknown genetic basis. Variants in the CAPN2 gene have been found to be associated with increased risk of iHLHS, revealing a novel pathway in the pathogenesis of HLHS.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)
Article
Mathematical & Computational Biology
Mira N. Moufarrej, DianaW. Bianchi, Gary M. Shaw, David K. Stevenson, Stephen R. Quake
Summary: Prenatal screening using cell-free DNA sequencing has revolutionized obstetric care by reducing invasive diagnostic procedures. However, emergency care is still necessary for complications such as preeclampsia and preterm birth. Noninvasive prenatal testing has expanded the field of precision medicine in obstetrics. This review discusses advances, challenges, and potentials in providing proactive and personalized prenatal care, focusing on cell-free nucleic acids as well as other signals from metabolomics, proteomics, intact cells, and the microbiome. Ethical challenges in care provision are also discussed, along with the future possibilities of redefining disease taxonomy and establishing causal relationships.
ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE
(2023)
Review
Allergy
Sayantani B. Sindher, Andrew R. Chin, Nima Aghaeepour, Lawrence Prince, Holden Maecker, Gary M. Shaw, David K. Stevenson, Kari C. Nadeau, Michael Snyder, Purvesh Khatri, Scott D. Boyd, Virginia D. Winn, Martin S. Angst, R. Sharon Chinthrajah
Summary: The prevalence of food allergy is increasing globally, causing significant safety, economic, and emotional burdens. However, identifying patients who would benefit from preventive strategies is challenging due to the heterogeneity of allergy trajectories and clinical phenotypes. Further studies are needed to investigate the molecular mechanisms that differentiate these trajectories and drive food allergy development. Omics approaches have the potential to provide insights into these mechanisms, but their application in food allergy research is still in its early stages.
FRONTIERS IN ALLERGY
(2023)
Article
Computer Science, Interdisciplinary Applications
Martin Becker, Huda Nassar, Camilo Espinosa, Ina A. Stelzer, Dorien Feyaerts, Eloise Berson, Neda H. Bidoki, Alan L. Chang, Geetha Saarunya, Anthony Culos, Davide De Francesco, Ramin Fallahzadeh, Qun Liu, Yeasul Kim, Ivana Maric, Samson J. Mataraso, Seyedeh Neelufar Payrovnaziri, Thanaphong Phongpreecha, Neal G. Ravindra, Natalie Stanley, Sayane Shome, Yuqi Tan, Melan Thuraiappah, Maria Xenochristou, Lei Xue, Gary Shaw, David Stevenson, Martin S. Angst, Brice Gaudilliere, Nima Aghaeepour
Summary: An open-source framework called CorALS is proposed to address the computational challenge of constructing large correlation networks in high-dimensional biological data. It enables the analysis of complex biological systems and is suitable for both personal and high-performance computers.
NATURE COMPUTATIONAL SCIENCE
(2023)
Meeting Abstract
Obstetrics & Gynecology
Danielle M. Panelli, Jonathan A. Mayo, Ronald J. Wong, Martin Becker, Ivana Maric, Erica Wu, Ian H. Gotlib, Nima Aghaeepour, Maurice L. Druzin, David K. Stevenson, Gary M. Shaw, Katherine Bianco
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2023)
Meeting Abstract
Obstetrics & Gynecology
Anne R. Waldrop, Yair J. Blumenfeld, Jonathan A. Mayo, Danielle M. Panelli, Sam Heft-Neal, Marshall Burke, Stephanie A. Leonard, Gary M. Shaw
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2023)