Prenatal diagnostics of chromosomal aberrations in the Czech Republic: Actual data and important trends

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064190%3A_____%2F18%3AN0000058" target="_blank" >RIV/00064190:_____/18:N0000058 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Prenatal diagnostics of chromosomal aberrations in the Czech Republic: Actual data and important trends

Popis výsledku v původním jazyce

The main goal of this study was to analyse the spectrum of chromosomal aberrations that were diagnosed during prenatal diagnostics in the Czech Republic in 2016. We present a retrospective epidemiological analysis that is based on the official data from the National Registry of Congenital Anomalies that is run by the Institute of Health Information and Statistics of the Czech Republic. Additional data were obtained actively from the departments of medical genetics and prenatal diagnostics under the guidance of the Czech Society of Medical Genetics and Genomics. In 2016 there were 577 cases of chromosomal aberrations identified during prenatal diagnostics in the Czech Republic. The most important group of aberrations were the three main autosomal trisomies – Down, Edwards and Patau syndromes which were identified in 64.8 % of cases. The most frequent of them was the Down syndrome, that was identified in 271 cases (47 % of all cases identified in 2016). Other aberrations (including the abnormalities of the gonosomes and other autosomal anomalies) were still identified in more than one third of cases, although the screening programs do not primarily focus on them. Combined screening in the first trimester and following prenatal diagnostics mostly identify main autosomal trisomies. Screening is currently the most important clinical referral for the invasive prenatal diagnostics procedures. We also observe important time trend of decreasing numbers of invasive diagnostics procedures – while the overall prenatal detection rate of chromosomal aberrations is not negatively affected.

Název v anglickém jazyce

Prenatal diagnostics of chromosomal aberrations in the Czech Republic: Actual data and important trends

Popis výsledku anglicky

The main goal of this study was to analyse the spectrum of chromosomal aberrations that were diagnosed during prenatal diagnostics in the Czech Republic in 2016. We present a retrospective epidemiological analysis that is based on the official data from the National Registry of Congenital Anomalies that is run by the Institute of Health Information and Statistics of the Czech Republic. Additional data were obtained actively from the departments of medical genetics and prenatal diagnostics under the guidance of the Czech Society of Medical Genetics and Genomics. In 2016 there were 577 cases of chromosomal aberrations identified during prenatal diagnostics in the Czech Republic. The most important group of aberrations were the three main autosomal trisomies – Down, Edwards and Patau syndromes which were identified in 64.8 % of cases. The most frequent of them was the Down syndrome, that was identified in 271 cases (47 % of all cases identified in 2016). Other aberrations (including the abnormalities of the gonosomes and other autosomal anomalies) were still identified in more than one third of cases, although the screening programs do not primarily focus on them. Combined screening in the first trimester and following prenatal diagnostics mostly identify main autosomal trisomies. Screening is currently the most important clinical referral for the invasive prenatal diagnostics procedures. We also observe important time trend of decreasing numbers of invasive diagnostics procedures – while the overall prenatal detection rate of chromosomal aberrations is not negatively affected.

Druh

J_SC - Článek v periodiku v databázi SCOPUS

CEP obor

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OECD FORD obor

30101 - Human genetics

Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Časopis lékařů českých

ISSN

0008-7335

e-ISSN

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Svazek periodika

157

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

4

Strana od-do

137-140

Kód UT WoS článku

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EID výsledku v databázi Scopus

2-s2.0-85055839085