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%2F00064190%3A_____%2F23%3A10001190" target="_blank" >RIV/00064190:_____/23:10001190 - isvavai.cz</a>

Result on the web

<a href="https://journals.lww.com/obgynsurvey/abstract/2023/03000/the_reduced_use_of_invasive_procedures_leads_to_a.2.aspx" target="_blank" >https://journals.lww.com/obgynsurvey/abstract/2023/03000/the_reduced_use_of_invasive_procedures_leads_to_a.2.aspx</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1097/01.ogx.0000923040.17449.2c" target="_blank" >10.1097/01.ogx.0000923040.17449.2c</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

Prenatal chromosomal aberration screening mainly focuses on the identification of the autosomal trisomy of chromosomes 21, 18, and 13 (Down syndrome, Edwards syndrome, and Patau syndrome, respectively). This screening may be often combined with other first-semester screenings to promote earlier detection of other pregnancy complications, including chromosomal aberrations. In the Czech Republic, there is no unified policy for prenatal screening. The main prenatal diagnostic centers provide combined prenatal screening in the first semester, whereas some conduct biochemical screening in the second trimester. Those with positive screening results or abnormal ultrasound are offered invasive diagnostic procedures, such as chorionic villus sampling (CVS) or amniocentesis, along with additional genetic testing. Whereas the number of amniocenteses has declined, the number of CVS is increasing. The aim of this study was to examine the results of chromosomal aberrations screening in a population with a high rate of first-trimester screening and low rate of noninvasive prenatal testing.This was a population-based study, using data from the National Registry of Congenital Anomalies of the Czech Republic from 2012 to 2016. Included were all cases of prenatally diagnosed chromosomal aberrations. The proportions of the autosomal trisomies and other chromosomal aberrations were calculated and compared. The denominator was the number of live births per year.A total of 3009 prenatally diagnosed cases of chromosomal aberrations were identified during the study period. The most common aberrations were the major autosomal trisomies (1885 cases [62.6%]). The number of invasive prenatal diagnostic procedures decreased from 11,517 cases (1099.54 per 10,000) to 7042 cases (622.73 per 10,000) during the study period. From 2012 to 2016, the number of prenatally diagnosed major autosomal trisomies increased (329 cases [30.86 per 10,000] vs 423 cases [37.41 per 10,000], respectively; Poisson regression: P = 0.014), and the number of other aberrations decreased (246 cases [23.07 per 10,000] vs 217 cases [19.19 per 10,000], respectively; Poisson regression: P = 0.017). There was a highly statistically significant increase of 57.22% in 2012 to 66.09% in 2016 in the rate of the major autosomal trisomies group (logistic regression: P &lt; 0.001).The study found that, during a 5-year period, when invasive prenatal diagnostic procedures declined, there was also a decrease in the number of nonmajor chromosomal aberrations. Noninvasive prenatal testing was not shown to impact these data.

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

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OECD FORD branch

30214 - Obstetrics and gynaecology

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2023

Confidentiality

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

Name of the periodical

Obstetrical and Gynecological Survey

ISSN

0029-7828

e-ISSN

1533-9866

Volume of the periodical

78

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

3

Pages from-to

133-135

UT code for WoS article

000983342000002

EID of the result in the Scopus database

2-s2.0-85149395821