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Related Experiment Videos

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

Drahomira Springer1, Jaroslav Loucky2,3, Pavel Tesner4

  • 11 First Faculty of Medicine, Department of Medical Biochemistry and Laboratory Diagnostics, Charles University, Prague, Czech Republic.

Journal of Medical Screening
|March 27, 2018
PubMed
Summary

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Implementing an integrated sequential test significantly improves Down

Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Obstetrics

Background:

  • Over 97% of pregnant women in the Czech Republic undergo antenatal screening for Down's syndrome.
  • Pregnancy termination occurs in 95% of confirmed fetal chromosomal abnormalities.
  • The first trimester combined test is the most common screening method.

Purpose of the Study:

  • To evaluate the impact of an integrated sequential test on Down's syndrome detection rates.
  • To enhance the accuracy of antenatal screening for fetal chromosomal abnormalities.

Main Methods:

  • Analysis of anonymized data from a large antenatal care center (2010-2015).
  • Inclusion of data on congenital defects, births, and terminated pregnancies from the National Registry of Congenital Anomalies.
Keywords:
Antenatal screeningDown’s syndromeintegrated test

Related Experiment Videos

  • Comparison of first trimester combined test results with integrated sequential test outcomes.

    • Main Results:

    • 600 Down's syndrome cases diagnosed (5.7 per 1000 births), 90% antenatally.
    • 80% of antenatally detected cases were indicated by multimarker screening.
    • Integrated sequential testing identified additional Down's syndrome cases missed by first trimester screening (6.25%).

    Conclusions:

    • An integrated sequential test detects 80-85% of Down's syndrome fetuses in the first trimester.
    • An additional 5-10% of Down's syndrome pregnancies are detected in the second trimester with this integrated approach.
    • These findings support the implementation of integrated sequential testing in national antenatal screening programs.