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Related Experiment Videos

Fetal nuchal translucency thickness.

I Witters1, J R Fryns

  • 1Center for Human Genetics, University of Leuven, Belgium. ingrid.witters@skynet.be

Genetic Counseling (Geneva, Switzerland)
|May 23, 2007
PubMed
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First-trimester ultrasound screening for trisomy 21 using fetal nuchal translucency significantly improves detection rates. Combining nuchal translucency with maternal serum screening and additional markers further enhances accuracy for chromosomal defects.

Area of Science:

  • Maternal-Fetal Medicine
  • Prenatal Diagnosis
  • Genetics

Background:

  • Down syndrome (trisomy 21) historically associated with specific physical features.
  • Early screening methods like maternal age and triple test had limited detection rates for trisomy 21.
  • Fetal nuchal translucency (NT) measurement introduced in the early 1990s revolutionized first-trimester screening.

Purpose of the Study:

  • To evaluate the effectiveness of first-trimester ultrasound screening for trisomy 21.
  • To assess the combined efficacy of NT measurement with maternal age and serum screening.
  • To explore the role of additional first-trimester soft markers in improving trisomy 21 detection.

Main Methods:

  • Ultrasound measurement of fetal nuchal translucency thickness between 11-13(+6) weeks gestation.

Related Experiment Videos

  • Integration of NT measurements with maternal age and serum screening (beta-hCG and PAPP-A).
  • Assessment of additional soft markers: fetal nasal bone, ductus venosus Doppler, and tricuspid regurgitation.

    • Main Results:

    • NT combined with maternal age achieved a 75% detection rate for trisomy 21.
    • Adding maternal serum screening increased the detection rate to 90%.
    • Additional soft markers further improved trisomy 21 detection rates.

    Conclusions:

    • First-trimester NT screening is a highly effective method for detecting trisomy 21.
    • Combined screening protocols offer superior detection rates compared to older methods.
    • Increased NT thickness also identifies other chromosomal abnormalities and congenital malformations.