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Related Experiment Videos

First-trimester or second-trimester screening, or both, for Down's syndrome.

Fergal D Malone1, Jacob A Canick, Robert H Ball

  • 1Columbia University College of Physicians and Surgeons, New York, USA. fmalone@rcsi.ie

The New England Journal of Medicine
|November 12, 2005
PubMed
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This summary is machine-generated.

Screening for fetal Down

Area of Science:

  • Maternal-Fetal Medicine
  • Prenatal Diagnostics
  • Genetics and Genomics

Background:

  • Uncertainty exists regarding optimal screening strategies for fetal Down's syndrome during pregnancy.
  • Screening options include first-trimester, second-trimester, or combined trimester approaches.
  • Accurate prenatal diagnosis of Down's syndrome is crucial for informed decision-making.

Purpose of the Study:

  • To compare the effectiveness of different prenatal screening methods for fetal Down's syndrome.
  • To evaluate first-trimester combined screening, second-trimester quadruple screening, and integrated strategies.
  • To determine optimal timing and methodology for Down's syndrome screening.

Main Methods:

  • Prospective study involving singleton pregnancies.

Related Experiment Videos

  • First-trimester screening: nuchal translucency, PAPP-A, free beta-hCG (10-14 weeks).
  • Second-trimester screening: AFP, total hCG, uE3, inhibin A (15-18 weeks).
  • Comparison of stepwise sequential, fully integrated, and serum integrated screening approaches.

    • Main Results:

    • At 11 weeks, first-trimester combined screening detected 87% of Down's syndrome cases.
    • Fully integrated screening with 11-week measurements achieved 96% detection rate at 5% false positive rate.
    • Stepwise sequential screening showed a 95% detection rate; serum integrated screening detected 88%.

    Conclusions:

    • First-trimester screening at 11 weeks is superior to second-trimester quadruple screening.
    • Integrated and sequential screening strategies offer high detection rates for Down's syndrome.
    • These advanced screening methods provide improved accuracy with low false positive rates.