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

Result code in 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>

Alternative codes found

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

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30101 - Human genetics

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

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2022

Confidentiality

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

Name of the periodical

Journal of Maternal-Fetal & Neonatal Medicine

ISSN

1476-7058

e-ISSN

1476-4954

Volume of the periodical

35

Issue of the periodical within the volume

22

Country of publishing house

GB - UNITED KINGDOM

Number of pages

6

Pages from-to

4326-4331

UT code for WoS article

000592037500001

EID of the result in the Scopus database

2-s2.0-85137127159