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Antenatal screening for Down's syndrome

N J Wald1, A Kennard, A Hackshaw

  • 1Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew's, London, UK.

Journal of Medical Screening
|January 1, 1997
PubMed
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Antenatal screening for Down's syndrome has evolved, utilizing maternal serum markers like AFP, hCG, and uE3. The quadruple test, incorporating inhibin A, offers the highest detection rate for Down's syndrome screening.

Area of Science:

  • Prenatal diagnostics
  • Maternal serum screening
  • Down's syndrome genetics

Background:

  • Antenatal diagnosis of Down's syndrome began in 1968, initially focusing on advanced maternal age.
  • Maternal serum markers, including alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3), were identified as indicators.
  • The combination of maternal age and these three biochemical markers became a widely adopted screening method in 1988.

Purpose of the Study:

  • To evaluate the efficacy of antenatal screening methods for Down's syndrome.
  • To quantify the performance of screening tests in terms of detection and false positive rates.
  • To establish integrated service models for antenatal screening.

Main Methods:

  • Utilizing maternal serum markers such as AFP, hCG (or free alpha- and free beta-hCG), uE3, and inhibin A between 15-22 weeks of gestation.

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  • Incorporating maternal age and ultrasound-estimated gestational age to enhance screening accuracy.
  • Considering additional factors like maternal weight, diabetes, multiple pregnancy, and ethnic origin.

    • Main Results:

    • The quadruple test (AFP, hCG, uE3, inhibin A) combined with maternal age achieved a 76% detection rate for Down's syndrome at a 5% false positive rate when ultrasound was used for gestational age estimation.
    • The triple test (AFP, hCG, uE3) showed a 69% detection rate, and the double test (AFP, hCG) showed a 59% detection rate.
    • Demonstration projects indicated an 80% screening uptake, with 5-6% screen-positive rates and high rates of diagnostic testing and termination among affected pregnancies.

    Conclusions:

    • Maternal serum marker screening, particularly the quadruple test, is an effective method for antenatal Down's syndrome screening.
    • Integrated screening services and careful evaluation of markers are crucial for successful implementation.
    • Emerging research in urinary markers and fetal cell analysis may offer future screening possibilities.