Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F19%3AN0000031" target="_blank" >RIV/00064190:_____/19:N0000031 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1002/ajmg.a.61365" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.61365</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ajmg.a.61365" target="_blank" >10.1002/ajmg.a.61365</a>
Alternative languages
Result language
angličtina
Original language name
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
<a href="/en/project/NV17-29622A" target="_blank" >NV17-29622A: Effectiveness analysis of prenatal diagnosis of congenital malformations and survival of children born with a birth defect in 1994 – 2015</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
ISSN
1552-4825
e-ISSN
1552-4833
Volume of the periodical
179
Issue of the periodical within the volume
12
Country of publishing house
US - UNITED STATES
Number of pages
22
Pages from-to
2382-2392
UT code for WoS article
000488581300001
EID of the result in the Scopus database
2-s2.0-85073978206