CEMIC - CONICET   26185
CENTRO DE EDUCACION MEDICA E INVESTIGACIONES CLINICAS "NORBERTO QUIRNO"
Unidad Ejecutora - UE
artículos
Título:
Trisomy 13 and 18—Prevalence and mortality—A multi‐registry population based analysis
Autor/es:
MORRIS, JOAN K.; BAKKER, MARIAN K.; CANFIELD, MARK A.; CAMELO, JORGE L.; NANCE, AMY; SIPEK, ANTONIN; GOETZ, DORIT; LUNA?MUÑOZ, LEONORA; ZARANTE, IGNACIO; TAGLIABUE, GIOVANNA; DASTGIRI, SAEED; GOEL, NITIN; WALLE, HERMIEN E. K.; MARENGO, LISA; LELONG, NATHALIE; JONES, ABBEY M.; MARTÍNEZ?FERNÁNDEZ, MARIA?LUISA; NEMBHARD, WENDY N.; GROISMAN, BORIS; LAPCHENKO, SERHIY; MARTINEZ, LAURA E.; GATT, MIRIAM; TUCKER, DAVID; KANCHERLA, VIJAYA; KALLEN, KARIN; STALLINGS, ERIN B.; HUYNH, MY?PHUONG; PIERINI, ANNA; RISSMANN, ANKE; SZABOVA, ELENA; HURTADO?VILLA, PAULA; LANDAU, DANIELLE; MORGAN, MARGERY
Revista:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Editorial:
WILEY-LISS, DIV JOHN WILEY & SONS INC
Referencias:
Lugar: New York; Año: 2019 vol. 179 p. 2382 - 2392
ISSN:
1552-4825
Resumen:
Trisomy 13 and 18-Prevalence and mortality-A Multi-Registry Population Based Analysis Nitin Goel 1 2 , Joan K Morris 3 , David Tucker 2 , Hermien E K de Walle 4 , Marian K Bakker 4 , Vijaya Kancherla 5 , Lisa Marengo 6 , Mark A Canfield 6 , Karin Kallen 7 , Nathalie Lelong 8 , Jorge L Camelo 9 , Erin B Stallings 10 11 , Abbey M Jones 10 , Amy Nance 12 , My-Phuong Huynh 12 , Maria-Luisa Martínez-Fernández 13 , Antonin Sipek 14 , Anna Pierini 15 , Wendy N Nembhard 16 , Dorit Goetz 17 , Anke Rissmann 17 , Boris Groisman 18 , Leonora Luna-Muñoz 19 , Elena Szabova 20 , Serhiy Lapchenko 21 , Ignacio Zarante 22 , Paula Hurtado-Villa 23 , Laura E Martinez 24 , Giovanna Tagliabue 25 , Danielle Landau 26 , Miriam Gatt 27 , Saeed Dastgiri 28 , Margery Morgan 2 Affiliations Expand Affiliations 1 Neonatal Unit, University Hospital of Wales, Cardiff, UK.2 CARIS (Congenital Anomaly Register & Information Services), Public Health Wales, Singleton Hospital, Swansea, UK.3 Medical Statistics, Population Health Research Institute, St George's, University of London, London, UK.4 Department of Genetics, Eurocat Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.5 Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.6 BDESB (Birth Defects Epidemiology and Surveillance Branch), Texas Department of State Health Services, Austin, Texas.7 National Board of Health and Welfare, Stockholm, Sweden.8 REMAPAR, PARis REgistry of Congenital Malformations, Inserm UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), Center for Epidemiology and Statistics Sorbonne Paris Cité, DHU Risks in pregnancy Paris, Paris Descartes University, France.9 ECLAMC, Latin American Collaborative Study of Congenital Malformations, Buenos Aires, Argentina.10 Division of Congenital and Developmental Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.11 Carter Consulting, Incorporated, Atlanta, Georgia.12 Utah Birth Defect Network, Bureau of Children with Special Healthcare Needs, Division of Family Health and Preparedness, Utah Department of Health, Salt Lake City, Utah.13 ECEMC, Spanish Collaborative Study of Congenital Malformations, Madrid, Spain.14 Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic.15 Tuscany Registry of Congenital Defects (RTDC), Institute of Clinical Physiology, National Research Council/Fondazione Toscana Gabriele Monasterio, Pisa, Italy.16 Department of Epidemiology, College of Public Health, University of Arkansas for Medical Sciences and Arkansas Reproductive Health Monitoring System (ARHMS), Little Rock, Arkansas.17 Medical Faculty Otto-von-Guericke University Magdeburg, Malformation Monitoring Centre Saxony-Anhalt, Magdeburg, Germany.18 National Network of Congenital Anomalies of Argentina (RENAC), ANLIS, National Ministry of Health, National Center of Medical Genetics, Ciudad de Buenos Aires, Argentina.19 RYVEMCE, Registry and Epidemiological Surveillance of External Congenital Malformations, Mexico City, Mexico.20 Slovak Teratology Information Center, Faculty of Public Health, Slovak Medical University, Bratislava, Slovak Republic.21 OMNI-Net UBDP (Ukraine Birth Defects Prevention Program), Rivne, Ukraine.22 Congenital Malformations Surveillance Programme of Bogotà, Pontificia Universidad Javeriana, Bogota D.C., Colombia.23 Faculty of Health Sciences, Congenital Malformations Surveillance Programme of Cali, Pontificia Universidad Javeriana-Cali, Cali, Colombia.24 Registro DAN (Registro de Defectos al Nacimiento), Departamento de Genética, Universidad Autónoma de Nuevo León, Monterrey, Mexico.25 RMCL, Lombardy, Italy.26 IBDSP (Israel Birth Defect Surveillance and Research program), Tel Aviv, Israel.27 Directorate for Health Information and Research, Malta Congenital Anomalies Registry (MCAR), Guardamangia, Malta.28 School of Medicine, Tabriz University of Medical Sciences, TROCA (Tabriz Registry of Congenital Anomalies), Tabriz, Iran. PMID: 31566869 PMCID: PMC6848757 DOI: 10.1002/ajmg.a.61365 Free PMC article Item in Clipboard Trisomy 13 and 18-Prevalence and mortality-A Multi-Registry Population Based Analysis Nitin Goel et al. Am J Med Genet A. 2019 Dec. Free PMC article Show details Am J Med Genet A Actions Search in PubMed Search in NLM Catalog Add to Search . 2019 Dec;179(12):2382-2392. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30. Authors Nitin Goel 1 2 , Joan K Morris 3 , David Tucker 2 , Hermien E K de Walle 4 , Marian K Bakker 4 , Vijaya Kancherla 5 , Lisa Marengo 6 , Mark A Canfield 6 , Karin Kallen 7 , Nathalie Lelong 8 , Jorge L Camelo 9 , Erin B Stallings 10 11 , Abbey M Jones 10 , Amy Nance 12 , My-Phuong Huynh 12 , Maria-Luisa Martínez-Fernández 13 , Antonin Sipek 14 , Anna Pierini 15 , Wendy N Nembhard 16 , Dorit Goetz 17 , Anke Rissmann 17 , Boris Groisman 18 , Leonora Luna-Muñoz 19 , Elena Szabova 20 , Serhiy Lapchenko 21 , Ignacio Zarante 22 , Paula Hurtado-Villa 23 , Laura E Martinez 24 , Giovanna Tagliabue 25 , Danielle Landau 26 , Miriam Gatt 27 , Saeed Dastgiri 28 , Margery Morgan 2 Affiliations 1 Neonatal Unit, University Hospital of Wales, Cardiff, UK.2 CARIS (Congenital Anomaly Register & Information Services), Public Health Wales, Singleton Hospital, Swansea, UK.3 Medical Statistics, Population Health Research Institute, St George's, University of London, London, UK.4 Department of Genetics, Eurocat Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.5 Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia.6 BDESB (Birth Defects Epidemiology and Surveillance Branch), Texas Department of State Health Services, Austin, Texas.7 National Board of Health and Welfare, Stockholm, Sweden.8 REMAPAR, PARis REgistry of Congenital Malformations, Inserm UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), Center for Epidemiology and Statistics Sorbonne Paris Cité, DHU Risks in pregnancy Paris, Paris Descartes University, France.9 ECLAMC, Latin American Collaborative Study of Congenital Malformations, Buenos Aires, Argentina.10 Division of Congenital and Developmental Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia.11 Carter Consulting, Incorporated, Atlanta, Georgia.12 Utah Birth Defect Network, Bureau of Children with Special Healthcare Needs, Division of Family Health and Preparedness, Utah Department of Health, Salt Lake City, Utah.13 ECEMC, Spanish Collaborative Study of Congenital Malformations, Madrid, Spain.14 Department of Medical Genetics, Thomayer Hospital, Prague, Czech Republic.15 Tuscany Registry of Congenital Defects (RTDC), Institute of Clinical Physiology, National Research Council/Fondazione Toscana Gabriele Monasterio, Pisa, Italy.16 Department of Epidemiology, College of Public Health, University of Arkansas for Medical Sciences and Arkansas Reproductive Health Monitoring System (ARHMS), Little Rock, Arkansas.17 Medical Faculty Otto-von-Guericke University Magdeburg, Malformation Monitoring Centre Saxony-Anhalt, Magdeburg, Germany.18 National Network of Congenital Anomalies of Argentina (RENAC), ANLIS, National Ministry of Health, National Center of Medical Genetics, Ciudad de Buenos Aires, Argentina.19 RYVEMCE, Registry and Epidemiological Surveillance of External Congenital Malformations, Mexico City, Mexico.20 Slovak Teratology Information Center, Faculty of Public Health, Slovak Medical University, Bratislava, Slovak Republic.21 OMNI-Net UBDP (Ukraine Birth Defects Prevention Program), Rivne, Ukraine.22 Congenital Malformations Surveillance Programme of Bogotà, Pontificia Universidad Javeriana, Bogota D.C., Colombia.23 Faculty of Health Sciences, Congenital Malformations Surveillance Programme of Cali, Pontificia Universidad Javeriana-Cali, Cali, Colombia.24 Registro DAN (Registro de Defectos al Nacimiento), Departamento de Genética, Universidad Autónoma de Nuevo León, Monterrey, Mexico.25 RMCL, Lombardy, Italy.26 IBDSP (Israel Birth Defect Surveillance and Research program), Tel Aviv, Israel.27 Directorate for Health Information and Research, Malta Congenital Anomalies Registry (MCAR), Guardamangia, Malta.28 School of Medicine, Tabriz University of Medical Sciences, TROCA (Tabriz Registry of Congenital Anomalies), Tabriz, Iran. PMID: 31566869 PMCID: PMC6848757 DOI: 10.1002/ajmg.a.61365 Item in Clipboard Full-text links Cite Favorites Abstract The aim of the study is to determine the prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) and 18 (T18), by congenital anomaly register and region. Twenty-four population- and hospital-based birth defects surveillance registers from 18 countries, contributed data on T13 and T18 between 1974 and 2014 using a common data-reporting protocol. The mean total birth prevalence (i.e., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 was 1.68 (95% CI 1.3-2.06), and for T18 was 4.08 (95% CI 3.01-5.15), per 10,000 births. The prevalence varied among the various registers. The mean prevalence among LB in all registers for T13 was 0.55 (95%CI 0.38-0.72), and for T18 was 1.07 (95% CI 0.77-1.38), per 10,000 births. The median mortality in the first week of life was 48% for T13 and 42% for T18, across all registers, half of which occurred on the first day of life. Across 16 registers with complete 1-year follow-up, mortality in first year of life was 87% for T13 and 88% for T18. This study provides an international perspective on prevalence and mortality of T13 and T18. Overall outcomes and survival among LB were poor with about half of live born infants not surviving first week of life; nevertheless about 10% survived the first year of life. Prevalence and outcomes varied by country and termination policies. The study highlights the variation in screening, data collection, and reporting practices for these conditions. Keywords: Edwards syndrome; Patau syndrome; congenital anomaly register; trisomies; trisomy 13; trisomy 18.