Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis
| Autor: | Leonora Luna-Muñoz, Giovanna Tagliabue, Amy Nance, M.L. Martínez-Fernández, Marian K. Bakker, Mark A. Canfield, Serhiy Lapchenko, Anna Pierini, Vijaya Kancherla, Hermien E. K. de Walle, Laura Martinez, Jorge Santiago López Camelo, Lisa Marengo, Abbey M. Jones, Paula Hurtado-Villa, Ignacio Zarante, Karin Källén, Anke Rissmann, David Tucker, Miriam Gatt, Wendy N. Nembhard, Nitin Goel, Nathalie Lelong, Antonin Sipek, My-Phuong Huynh, Dorit Goetz, Danielle Landau, Margery Morgan, Elena Szabova, Saeed Dastgiri, Boris Groisman, Joan K Morris, Erin B. Stallings |
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| Přispěvatelé: | Reproductive Origins of Adult Health and Disease (ROAHD) |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Down syndrome
congenital anomaly register Trisomy 13 Syndrome Day of life Population ENGLAND First year of life CHILDREN Population based Pregnancy Prenatal Diagnosis Genetics Medicine Humans trisomy 18 Registries DOWN-SYNDROME Mortality education trisomy 13 Genetics (clinical) trisomies Edwards syndrome education.field_of_study business.industry Pregnancy Outcome medicine.disease TRENDS PREVALENCE Patau syndrome Population Surveillance SURVIVAL EXPERIENCE Female MATERNAL AGE TRISOMIES 13 business Trisomy Live Birth Trisomy 18 Syndrome Demography |
| Zdroj: | American Journal of Medical Genetics. Part A. Wiley |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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