The reduced use of invasive procedures leads to a change of frequencies of prenatally detected chromosomal aberrations: population data from the years 2012–2016

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985807%3A_____%2F22%3A00535214" target="_blank" >RIV/67985807:_____/22:00535214 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/22:10419213 RIV/75010330:_____/22:00013890 RIV/00216208:11110/22:10419213 RIV/00216208:11120/22:43920824 RIV/00064190:_____/20:N0000025

Výsledek na webu

<a href="https://dx.doi.org/10.1080/14767058.2020.1849113" target="_blank" >https://dx.doi.org/10.1080/14767058.2020.1849113</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1080/14767058.2020.1849113" target="_blank" >10.1080/14767058.2020.1849113</a>

Jazyk výsledku

angličtina

Název v původním jazyce

The reduced use of invasive procedures leads to a change of frequencies of prenatally detected chromosomal aberrations: population data from the years 2012–2016

Popis výsledku v původním jazyce

OBJECTIVE: The aim of the study was to analyze the results of screening for chromosomal aberrations in a population with a high rate of first-trimester screening and low rate of cell-free DNA testing. METHODS:The data were obtained from the National Registry of Congenital Anomalies of the Czech Republic. We calculated and compared the proportion of autosomal trisomies (Down, Edwards, and Patau syndrome) and of other chromosomal aberrations identified during prenatal diagnostics. RESULTS: We identified 3009 prenatally diagnosed cases of chromosomal aberrations in the 2012–2016 period. The number of major autosomal trisomies has increased from 329 cases (30.86 per 10,000 live births) in 2012 to 423 cases (37.41) in 2016 (p = 0.014). The numbers of other aberrations decreased from 246 cases (23.07 per 10,000) in 2012 to 217 cases (19.19) in 2016 (p = 0.017). The usage of invasive diagnostic procedures decreased from 1099.54 in 2012 to 622.73 in 2016 (per 10,000 live births). CONCLUSIONS: Our population-based study confirmed a decrease in prenatal detection of nonmajor chromosomal aberrations wherein a decrease of invasive testing occurred. With the introduction of cell-free DNA testing, further decrease of invasive procedures and detection of nonmajor aberrations may be expected.

Název v anglickém jazyce

The reduced use of invasive procedures leads to a change of frequencies of prenatally detected chromosomal aberrations: population data from the years 2012–2016

Popis výsledku anglicky

OBJECTIVE: The aim of the study was to analyze the results of screening for chromosomal aberrations in a population with a high rate of first-trimester screening and low rate of cell-free DNA testing. METHODS:The data were obtained from the National Registry of Congenital Anomalies of the Czech Republic. We calculated and compared the proportion of autosomal trisomies (Down, Edwards, and Patau syndrome) and of other chromosomal aberrations identified during prenatal diagnostics. RESULTS: We identified 3009 prenatally diagnosed cases of chromosomal aberrations in the 2012–2016 period. The number of major autosomal trisomies has increased from 329 cases (30.86 per 10,000 live births) in 2012 to 423 cases (37.41) in 2016 (p = 0.014). The numbers of other aberrations decreased from 246 cases (23.07 per 10,000) in 2012 to 217 cases (19.19) in 2016 (p = 0.017). The usage of invasive diagnostic procedures decreased from 1099.54 in 2012 to 622.73 in 2016 (per 10,000 live births). CONCLUSIONS: Our population-based study confirmed a decrease in prenatal detection of nonmajor chromosomal aberrations wherein a decrease of invasive testing occurred. With the introduction of cell-free DNA testing, further decrease of invasive procedures and detection of nonmajor aberrations may be expected.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

<a href="/cs/project/NV17-29622A" target="_blank" >NV17-29622A: Analýza efektivity prenatální diagnostiky vrozených vad a přežívání dětí narozených s vrozenou vadou v České republice v období 1994 – 2015</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

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

Název periodika

Journal of Maternal-Fetal & Neonatal Medicine

ISSN

1476-7058

e-ISSN

1476-4954

Svazek periodika

35

Číslo periodika v rámci svazku

22

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

6

Strana od-do

4326-4331

Kód UT WoS článku

000592037500001

EID výsledku v databázi Scopus

2-s2.0-85137127159