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Second-trimester screening for trisomy-21 using prefrontal space ratio.

Petya Chaveeva1, Maria Agathokleous, Leona C Y Poon

  • 1Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.

Fetal Diagnosis and Therapy
|May 29, 2013
PubMed
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The prefrontal space ratio (PFSR) effectively screens for trisomy-21 in the second trimester. This ultrasound marker achieved 100% detection with a 5% false-positive rate, showing its clinical value.

Area of Science:

  • Prenatal diagnostics
  • Fetal medicine
  • Genetics

Background:

  • Second-trimester screening for trisomy-21 is crucial for early intervention.
  • Accurate and non-invasive markers are needed to improve screening efficacy.

Purpose of the Study:

  • To evaluate the effectiveness of the prefrontal space ratio (PFSR) as a screening tool for trisomy-21 during the second trimester of pregnancy.

Main Methods:

  • A retrospective analysis of fetal profile ultrasound images from 240 euploid and 45 trisomy-21 pregnancies.
  • Measurement of distances to calculate the PFSR, adjusting for gestational age.
  • Comparison of PFSR values between trisomy-21 cases and euploid controls.

Main Results:

  • Trisomy-21 pregnancies showed significantly increased ΔD1 and PFSR, and decreased ΔD2 compared to controls.

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  • At a 5% false-positive rate, PFSR achieved 100% detection for trisomy-21.
  • ΔD1 and ΔD2 had lower detection rates (80.0% and 46.7%, respectively).

    • Conclusions:

    • The prefrontal space ratio (PFSR) is a highly effective ultrasound marker for second-trimester trisomy-21 screening.
    • PFSR offers superior detection rates compared to other measured parameters, enhancing diagnostic accuracy.