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Importance of the integrated test in the Down's syndrome screening algorithm

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10377734" target="_blank" >RIV/00216208:11110/18:10377734 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/18:10377734 RIV/00064203:_____/18:10377734 RIV/00064190:_____/18:N0000011 RIV/00064165:_____/18:10377734

  • Result on the web

    <a href="https://doi.org/10.1177/0969141317752533" target="_blank" >https://doi.org/10.1177/0969141317752533</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1177/0969141317752533" target="_blank" >10.1177/0969141317752533</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Importance of the integrated test in the Down's syndrome screening algorithm

  • Original language description

    Objective: In the Czech Republic, over 97% of all pregnant women undergo some type of antenatal screening for Down&apos;s syndrome. In about 95% of cases with a confirmed fetal chromosomal abnormality, the pregnancy is terminated. The most commonly used test is the first trimester combined test. We investigated the impact of implementing an integrated sequential test to improve the detection of Down&apos;s syndrome pregnancies. Methods: Data on the incidence of congenital defects, number of births, and affected pregnancies terminated are recorded in the National Registry of Congenital Anomalies. Anonymous data on cases of Down&apos;s syndrome diagnosed antenatally or postnatally between 2010 and 2015 in one of the large antenatal care centers were analyzed. Results: There were 600 diagnoses of Down&apos;s syndrome (5.7 per 1000 births), 90% of which were made antenatally. Of antenatally detected cases, 80% were indicated for diagnostic procedure by multimarker screening results. In the multimarker screen positive group, 75% cases were first trimester positive and 25% second trimester positive (most of these had positive integrated test results). Among Down&apos;s syndrome cases indicated for antenatal diagnosis by multimarker screening results 6.25% (n = 26) were first trimester negative, and became positive after integration with the second trimester screening results. Conclusions: Results from five major Czech antenatal centers confirm that an integrated sequential test would detect 80-85% of Down&apos;s syndrome fetuses in the first trimester and at least an extra 5-10% of Down&apos;s syndrome pregnancies in the second trimester of pregnancy. These are important data that should be considered in implementing the national antenatal screening program.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10600 - Biological sciences

Result continuities

  • Project

    <a href="/en/project/LM2015091" target="_blank" >LM2015091: National Center for Medical Genomic</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2018

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    Journal of Medical Screening

  • ISSN

    0969-1413

  • e-ISSN

  • Volume of the periodical

    25

  • Issue of the periodical within the volume

    3

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    5

  • Pages from-to

    114-118

  • UT code for WoS article

    000441404900002

  • EID of the result in the Scopus database

    2-s2.0-85044715214