Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis

• Type of Material: Article
• Authors: Nitin Goel, University Hospital of Wales; Joan K. Morris, St George's University; David Tucker, Singleton Hospital; Hermien E. K. de Walle, University of Groningen; Marian K. Bakker, University of Groningen; Vijaya Kancherla, Emory University; Lisa Marengo, Texas Department of State Health Services; Mark A. Canfield, Texas Department of State Health Services; Karin Kallen, National Board of Health and Welfare; Nathalie Lelong, University of Paris Descartes; Jorge L. Camelo, Latin American Collaborative Study of Congenital Malformations; Erin B. Stallings, Centers for Disease Control and Prevention; Abbey M. Jones, Centers for Disease Control and Prevention; Amy Nance, Utah Department of Health; Huynh My-Phuong, Utah Department of Health; Maria-Luisa Martinez-Fernandez, Spanish Collaborative Study of Congenital Malformations; Antonin Sipek, Thomayer Hospital; Anna Pierini, Tuscany Registry of Congenital Defects; Wendy N. Nembhard, University of Arkansas; Dorit Goetz, Otto von Guericke University
• Language: English
• Date: 2019-09-30
• Publisher: Wiley: 12 months
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2019 Wiley Periodicals, Inc.
• Final Published Version (URL): http://dx.doi.org/10.1002/ajmg.a.61365
• Title of Journal or Parent Work: American Journal of Medical Genetics Part A
• ISSN: 1552-4825
• Volume: 179
• Issue: 12
• Start Page: 2382
• End Page: 2392
• Grant/Funding Information: The work conducted at the ECEMC group was supported by the Instituto de Salud Carlos III (ISCIII, Ministry of Science, Innovation and Universities) of Spain; and the Fundación 1000 sobre Defectos Congénitos of Spain.
• Keywords: CHILDREN; congenital anomaly register; EXPERIENCE; Science & Technology; trisomy 13; DOWN-SYNDROME; Edwards syndrome; ENGLAND; SURVIVAL; TRENDS; TRISOMIES 13; Genetics & Heredity; PREVALENCE; trisomy 18; MATERNAL AGE; Patau syndrome; trisomies; Life Sciences & Biomedicine
• Research Categories: Health Sciences, Epidemiology; Biology, Genetics

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.