Article
Medicine, General & Internal
Angelika Buczynska, Iwona Sidorkiewicz, Ahsan Hameed, Adam Jacek Kretowski, Monika Zbucka-Kretowska
Summary: This review provides novel insights into the pathogenesis of trisomy 13 and 18, with a particular focus on oxidative stress. Evaluating oxidative stress is important for understanding disrupted metabolic pathways, mitochondrial dysfunction, and epigenetics. Additionally, unifying research protocols related to trisomy could have potential medical targets.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, Research & Experimental
Jalen Benson, Candace Stewart, Margaret A. Kenna, A. Eliot Shearer
Summary: The objective of this study was to comprehensively describe the otolaryngologic clinical characteristics and procedures required for patients with trisomy 13 and trisomy 18. The results showed that most patients required multidisciplinary management, and the most common diagnoses were gastroesophageal reflux disease, dysphagia, otitis media, and obstructive sleep apnea.
Article
Surgery
Elizabeth A. Alore, Sara C. Fallon, James A. Thomas, Adam M. Vogel
Summary: The use of extracorporeal life support in trisomy 13 and trisomy 18 patients is controversial, but overall survival rates and complication rates are within acceptable ranges.
JOURNAL OF SURGICAL RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Sara K. Swanson, Kurt R. Schumacher, Richard G. Ohye, Jeffrey D. Zampi
Summary: Patients with trisomy 13 and 18 undergoing cardiac surgery have an increased incidence of postoperative airway and pulmonary complications, leading to longer hospital stays. Discussions regarding postoperative airway management should be included in parental guidance before surgery.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2021)
Review
Genetics & Heredity
Meaghann S. Weaver, Venus Anderson, Jill Beck, Jeffrey W. Delaney, Cynthia Ellis, Scott Fletcher, James Hammel, Suzanne Haney, Andrew Macfadyen, Bridget Norton, Mary Rickard, Jeffrey A. Robinson, Ryan Sewell, Lois Starr, Nicole D. Birge
Summary: Children with trisomy 13 and 18 are living longer than previously thought, leading to a need for a comprehensive understanding of their health needs and care interventions. This review article highlights the importance of interdisciplinary care teams and the value of sharing experiences in caring for these children.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Biology
Stephanie Springer, Eva Karner, Christof Worda, Maria Magdalena Grabner, Elisabeth Seidl-Mlczoch, Franco Laccone, Juergen Neesen, Anke Scharrer, Barbara Ulm
Summary: This retrospective cohort study evaluated pregnancies complicated by fetal congenital heart disease (CHD) and trisomies 13, 18, and 21. The study found a high rate of pregnancy termination among affected families, but relatively higher livebirth and survival rates among infants with trisomy 21.
Review
Pediatrics
Niloufar Hafezi, Amanda R. Jensen, Zoe M. Saenz, Amelia T. Collings, Cameron L. Colgate, Zeynep N. Inanc Salih, Gabrielle C. Geddes, Brian W. Gray
Summary: This study retrospectively reviewed the surgical history and outcomes of patients with Trisomy 13 and 18 at Riley Hospital for Children in Indianapolis from 1990 to 2020. The results showed that surgical intervention was necessary for these patients, but the mortality rate after surgery was high. Factors such as genetic variant and surgical comorbidities were associated with postoperative mortality.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Obstetrics & Gynecology
Nobuhiro Suzumori, Akihiko Sekizawa, Eri Takeda, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Setsuko Nakayama, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Masayuki Yamaguchi, Shinya Tairaku, Kazuhisa Maeda, Takashi Kaji, Yoko Okamoto, Masayuki Endo, Masaki Ogawa, Yasuyo Kasai, Kiyotake Ichizuka, Naoki Yamada, Akinori Ida, Norio Miharu, Satoshi Kawaguchi, Yasuyuki Hasuo, Tetsuya Okazaki, Mayuko Ichikawa, Shunichiro Izumi, Naohiko Kuno, Junko Yotsumoto, Miyuki Nishiyama, Nahoko Shirato, Tatsuko Hirose, Haruhiko Sago
Summary: This study retrospectively analysed maternal characteristics and neonatal outcomes associated with cfDNA results, revealing details of false-positive and false-negative results in NIPT. The findings suggest that the incidence of false-positive or false-negative results is relatively low, such errors can often be explained, and vanishing twin and CPM may be potential causes of NIPT failure. Genetc counselling is important for clients prior to undergoing NIPT.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2021)
Article
Obstetrics & Gynecology
Pe'er Dar, Bo Jacobsson, Cora MacPherson, Melissa Egbert, Fergal Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Lance Edwards, Sina Haeri, Robert Silver, Nidhi Vohra, Jon Hyett, Garfield Clunie, Zachary Demko, Kimberly Martin, Matthew Rabinowitz, Karen Flood, Ylva Carlsson, Georgios Doulaveris, Ciara Malone, Maria Hallingstrom, Susan Klugman, Rebecca Clifton, Charlly Kao, Hakon Hakonarson, Mary E. Norton
Summary: This study measured and compared the performance of cell-free DNA screening for trisomies 21, 18, and 13 between women at a low and high risk for aneuploidy. The results showed that in women at a low risk for aneuploidy, cell-free DNA screening has high sensitivity and specificity. Patients who receive a no-call result are at an increased risk of aneuploidy and require additional investigation.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Article
Genetics & Heredity
Katherine A. Kosiv, Jin Long, Henry C. Lee, R. Thomas Collins
Summary: The study examined the prevalence of congenital heart disease in trisomy 13 and 18 patients, developing and validating a survival model for infants up to 6 months old. The model, which included predictive variables like cardiac surgery and mechanical ventilation, demonstrated good performance and could potentially assist in decision-making regarding congenital heart surgery.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Peter Benn, Francesca Romana Grati
Summary: Distinct patterns of autosomal trisomies were found in trophoblasts, mesenchyme, or both. Trisomies in both trophoblasts and mesenchyme resembled those in spontaneous abortions, and were associated with chromosome size and protein coding genes. The abnormalities seen in CVS differ from those reported in early embryos, with lineage-specific aneuploidy in trophoblasts, mesenchyme, and fetus from conception through birth.
PRENATAL DIAGNOSIS
(2021)
Article
Obstetrics & Gynecology
Nicholas Torbert, Marie Neumann, Nicole Birge, Donnetta Perkins, Elizabeth Ehrhardt, Meaghann S. Weaver
Summary: This qualitative study explores the perspectives of nurses, advanced practice practitioners, and neonatologists on the care for babies with trisomy 13 or 18 in the intensive care unit. The study reveals that the majority of NICU staff perceive care for these babies to be different from care for babies with other critical chronic illnesses. The study identifies themes of internal conflict, variable presentation and prognosis, grappling with uncertainty, family experiences, and provision of meaningful care. Nurses emphasize the provision of meaningful care, while neonatologists highlight the variability of presentation and prognosis.
AMERICAN JOURNAL OF PERINATOLOGY
(2022)
Article
Obstetrics & Gynecology
Chih-Ping Chen, Shun-Long Weng, Shin -Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wen -Lin Chen, Wayseen Wang
Summary: This article reports a case of low-level mosaic trisomy 13 detected through amniocentesis in a pregnancy, with a favorable fetal outcome and cytogenetic discrepancy in various tissues.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2023)
Article
Obstetrics & Gynecology
Chih-Ping Chen, Te-Yao Hsu, Ching -Chang Tsai, Schu-Rern Chern, Shin -Wen Chen, Fang-Tzu Wu, Peih-Shan Wu, Chen-Chi Lee, Li-Feng Chen, Chen -Wen Pan, Wayseen Wang
Summary: The case report presents prenatal diagnosis of mosaic trisomy 18 by amniocentesis, showing a favorable fetal outcome. The abnormal trisomy 18 cell line may decrease progressively after birth, suggesting a positive prognosis.
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
(2022)
Article
Environmental Sciences
Xiumei Han, Ting Lu, Yanhui Hu, Jiawei Duan, Yusheng Guan, Xiaomin Huang, Jingjing Zhou, Rui Huang, Miaomiao Tang, Rongli Sun, Ying Wang, Ling Song, Yankai Xia, Xinru Wang, Minjian Chen, Ting Chen
Summary: Benzophenone-3 (BP-3) is widely used in cosmetics and women are exposed to high levels of BP-3. This study investigated the effects of BP-3 on fetal and uterine metabolism in mice, and found that it can induce placental thrombosis and fetal loss through disturbances in metabolism.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2022)
Article
Pharmacology & Pharmacy
Frank Moriarty, George M. Savva, Carlota M. Grossi, Kathleen Bennett, Chris Fox, Ian Maidment, Yoon K. Loke, Nicholas Steel, Rose Anne Kenny, Kathryn Richardson
Summary: This study aimed to estimate the association between patterns of anticholinergic, benzodiazepine, and Z-drug medication use and change in cognitive function in middle-aged and older adults. The results showed that, except for new use of anticholinergic medications, no other findings supported a risk of cognitive decline over 2-year periods in this cohort. Patients and prescribers should carefully consider the potential risks and benefits of commencing anticholinergic medications.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
(2021)
Article
Health Care Sciences & Services
Kathryn Richardson, George M. Savva, Penelope J. Boyd, Clare Aldus, Ian Maidment, Eduwin Pakpahan, Yoon K. Loke, Antony Arthur, Nicholas Steel, Clive Ballard, Robert Howard, Chris Fox
HEALTH TECHNOLOGY ASSESSMENT
(2021)
Article
Microbiology
Amelia L. Hynen, James J. Lazenby, George M. Savva, Laura C. McCaughey, Lynne Turnbull, Laura M. Nolan, Cynthia B. Whitchurch
Summary: Bacterial biofilms consist of cells and eDNA, with eDNA release regulated by three holins in Pseudomonas aeruginosa, impacting biofilm development and microcolony formation. The release of eDNA plays a crucial role in cell-cell interactions and the consolidation of cell clusters within biofilms.
Article
Developmental Biology
Matilda J. Pitt, Joan K. Morris
Summary: The study found that from 2000 to 2015, there was an improvement in all-cause and congenital anomaly mortality rates for children in Europe, with significant differences between countries and regions. Despite higher mortality rates in Eastern European countries, they also experienced greater relative reductions over the study period.
BIRTH DEFECTS RESEARCH
(2021)
Article
Medicine, General & Internal
Joan K. Morris, Ester Garne, Maria Loane, Ingeborg Barisic, James Densem, Anna Latos-Bielenska, Amanda Neville, Anna Pierini, Judith Rankin, Anke Rissmann, Hermien de Walle, Joachim Tan, Joanne Emma Given, Hugh Claridge
Summary: The EUROlinkCAT study investigates the health and educational outcomes of children with congenital anomalies in their first 10 years of life, using a European network of registries to link data and perform meta-analyses. The study aims to provide evidence to improve healthcare and reduce health inequalities in Europe.
Article
Medicine, General & Internal
Joanna Orr, Joseph Freer, Joan K. Morris, Caroline Hancock, Robert Walton, Leo Dunkel, Helen L. Storr, Andrew J. Prendergast
Summary: This study examined the prevalence of short stature among 4-5 year old children in England and found significant regional and social disparities. Short stature was more prevalent in the most deprived areas, with a clear North-South divide. The study highlights the need for further investigation into socioeconomic factors influencing height and the reasons behind regional variations.
Article
Public, Environmental & Occupational Health
Helen Dolk, Christine Damase-Michel, Joan K. Morris, Maria Loane
Summary: This study reviewed the main data sources and study designs used internationally for congenital anomalies (CA) research and their strengths and limitations in investigating COVID-19 disease, medications, and vaccines. The study found that pregnancy exposure registries have been the main design for COVID-19 pregnancy studies, but lack detailed information on first-trimester exposures relevant to CA. CA registries present opportunities for improving diagnostic accuracy in COVID-19 research. In addition, multinational collaboration delivers statistical power.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2022)
Editorial Material
Pediatrics
Joan K. Morris, Nicholas J. Wald
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Multidisciplinary Sciences
Stine Kjaer Urhoj, Joachim Tan, Joan K. Morris, Joanne Given, Gianni Astolfi, Silvia Baldacci, Ingeborg Barisic, Joanna Brigden, Clara Cavero-Carbonell, Hannah Evans, Mika Gissler, Anna Heino, Sue Jordan, Renee Lutke, Ljubica Odak, Aurora Puccini, Michele Santoro, Ieuan Scanlon, Hermien E. K. de Walle, Diana Wellesley, Oscar Zurriaga, Maria Loane, Ester Garne
Summary: Children with congenital anomalies have a higher risk of hospitalization and longer length of stay. However, the outlook improves after the first year. It is important to provide support and assistance to the parents of children with congenital anomalies, informing them about the necessary care and the impact on family life and siblings.
Article
Chemistry, Applied
M. Corrado, P. Zafeiriou, J. H. Ahn-Jarvis, G. M. Savva, C. H. Edwards, B. A. Hazard
Summary: The staling behavior of high-amylose bread and conventional bread during storage under different conditions was compared. It was found that the high-amylose bread had less starch digestion and maintained a more stable texture compared to the conventional bread.
FOOD HYDROCOLLOIDS
(2023)
Article
Developmental Biology
Joan K. Morris, Diana Wellesley, Elizabeth Limb, Jorieke E. H. Bergman, Agnieszka Kinsner-Ovaskainen, Marie Claude Addor, Jennifer M. Broughan, Clara Cavero-Carbonell, Carlos M. Dias, Luis-Javier Echevarria-Gonzalez-de-Garibay, Miriam Gatt, Martin Haeusler, Ingeborg Barisic, Kari Klungsoyr, Nathalie Lelong, Anna Materna-Kiryluk, Amanda Neville, Vera Nelen, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Sarah Stevens, David Tucker, Ester Garne
Summary: Younger mothers in the UK have a higher risk of gastroschisis compared to other European countries. The prevalence of gastroschisis and congenital constriction bands is significantly higher in the UK, even after adjusting for maternal age. However, the prevalence of transverse limb reduction defects is similar between the UK and other countries.
BIRTH DEFECTS RESEARCH
(2022)
Article
Developmental Biology
Ester Garne, Stine Kjaer Urhoj, Marian Bakker, Mika Gissler, Joanne Given, Anna Heino, Elisabeth Limb, Maria Loane, Hermien de Walle, Joan Morris
Summary: This study evaluated the quality and accuracy of codes identifying termination of pregnancy for fetal anomalies (TOPFA) cases in hospital databases. The results showed that hospital databases have limited information or codes to accurately identify specific anomalies in TOPFA cases, but can be used to identify the occurrence of a TOPFA and obtain more detailed information from medical records.
BIRTH DEFECTS RESEARCH
(2023)
Article
Developmental Biology
Ann-Louise Rud Andersen, Stine Kjaer Urhoj, Joachim Tan, Clara Cavero-Carbonell, Miriam Gatt, Mika Gissler, Kari Klungsoyr, Babak Khoshnood, Joan Morris, Amanda J. Neville, Anna Pierini, Ieuan Scanlon, Hermien E. K. de Walle, Diana Wellesley, Ester Garne, Maria Loane
Summary: This population-based data-linkage cohort study investigated the mortality and morbidity for the first 5 years of life in European children diagnosed with Turner syndrome. The results showed that the burden of disease was relatively high in the first year, but decreased afterwards.
BIRTH DEFECTS RESEARCH
(2023)
Article
Pediatrics
Joanne Given, Joan K. Morris, Ester Garne, Elisa Ballardini, Laia Barrachina-Bonet, Clara Cavero-Carbonell, Mika Gissler, Francesca Gorini, Anna Heino, Sue Jordan, Amanda J. Neville, Anna Pierini, Ieuan Scanlon, Joachim Tan, Stine K. Urhoj, Maria Loane
Summary: This study aimed to evaluate the prescription rates of insulin/insulin analogues in children aged 0-9 years with and without major congenital anomalies. The results showed that children with chromosomal anomalies had an increased risk of developing diabetes requiring insulin therapy, while children with non-chromosomal anomalies had a similar risk to the reference group. Female children had a reduced risk, and preterm births without congenital anomalies were more likely to be prescribed insulin/insulin analogues.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Joan Morris, Ieda M. Orioli, Adriana Benavides-Lara, Maria de la Paz Barboza-Arguello, Maria Aurora Canessa Tapia, Giovanny Vinicius Araujo de Franca, Boris Groisman, Jorge Holguin, Paula Margarita Hurtado-Villa, Marisol Ibarra Ramirez, Cecilia Mellado, Rosa Pardo, Dania Maria Pastora Bucardo, Catherin Rodriguez, Ignacio Zarante, Elizabeth Limb, Helen Dolk
Summary: The study utilized data from the Latin American Network of Congenital Malformations to estimate the prevalence of microcephaly from 2010 to 2017. Results showed that the prevalence of microcephaly increased in areas outside Brazil, with a significant rise in 2016 and 2017. In Brazil, the prevalence also increased during the Zika virus epidemic years of 2015 and 2016. Only 29 out of 687 microcephaly cases in other countries were reported as congenital Zika syndrome.
BMJ PAEDIATRICS OPEN
(2021)