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Related Experiment Videos

The 11-14 week scan.

K H Nicolaides1, V Heath, A W Liao

  • 1Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, King's College London, Denmark Hill, London, SE5 8RX, UK.

Bailliere'S Best Practice & Research. Clinical Obstetrics & Gynaecology
|September 14, 2000
PubMed
Summary
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Nuchal translucency (NT) screening at 11-14 weeks, combined with maternal age and serum markers, effectively detects fetal chromosomal abnormalities like trisomy 21. This early scan also identifies other genetic syndromes and major fetal defects.

Area of Science:

  • Maternal-fetal medicine
  • Prenatal diagnostics
  • Genetics

Background:

  • Nuchal translucency (NT) thickness measurement at 11-14 weeks gestation is a key component of first-trimester screening.
  • Combining NT with maternal age improves trisomy 21 screening efficacy.
  • Maternal serum markers enhance the detection rates for chromosomal abnormalities.

Purpose of the Study:

  • To evaluate the effectiveness of first-trimester screening using nuchal translucency and maternal serum markers.
  • To assess the capability of NT screening in identifying a broader spectrum of fetal abnormalities.
  • To highlight the benefits of the 11-14 week scan in early diagnosis and pregnancy management.

Main Methods:

  • First-trimester ultrasound for nuchal translucency (NT) measurement.

Related Experiment Videos

  • Maternal serum analysis for free-beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A).
  • Integration of NT, maternal age, and serum markers for risk assessment.
  • Main Results:

    • A 5% invasive testing rate identifies approximately 75% of trisomy 21 pregnancies using NT and maternal age.
    • Incorporating maternal serum markers (free-β-hCG and PAPP-A) increases chromosomal defect detection to about 90%.
    • Increased NT is associated with other chromosomal abnormalities, congenital heart defects, skeletal dysplasias, and genetic syndromes.

    Conclusions:

    • First-trimester screening combining NT, maternal age, and serum markers is highly effective for detecting trisomy 21 and other chromosomal abnormalities.
    • The 11-14 week scan offers significant benefits, including early diagnosis of major fetal defects, detection of multiple pregnancies, and reliable chorionicity assessment.
    • Adequate training and rigorous audit of results are crucial for the successful implementation of 11-14 week scans in clinical practice.