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Screening for Down's syndrome

T Chard1, M C Macintosh

  • 1Departments of Obstetrics, Gynaecology and Reproductive Physiology, St. Bartholomew's Hospital Medical College, London, U.K.

Journal of Perinatal Medicine
|January 1, 1995
PubMed
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Down's syndrome (DS) screening uses maternal age and biochemical markers like alphafetoprotein (AFP) and human chorionic gonadotrophin (hCG) to identify pregnancies at risk. These tests help detect trisomy 21, improving early diagnosis for affected infants.

Area of Science:

  • Prenatal diagnostics
  • Maternal-fetal medicine
  • Genetics

Background:

  • Down's syndrome (DS), caused by trisomy 21, is a leading cause of severe intellectual disability in children.
  • While invasive diagnostic methods like amniocentesis exist, they carry risks and are reserved for high-risk pregnancies.
  • Biochemical and ultrasound markers in maternal circulation during pregnancy offer non-invasive screening options for DS.

Purpose of the Study:

  • To review the advancements in biochemical screening for Down's syndrome.
  • To discuss the effectiveness and controversies surrounding various biochemical markers used in DS screening.
  • To highlight factors influencing the accuracy of these screening tests.

Main Methods:

  • Analysis of maternal serum levels of fetal and placental products, including alphafetoprotein (AFP), estriol (E3), and human chorionic gonadotrophin (hCG).

Related Experiment Videos

  • Utilizing computer programs to calculate combined risk based on biochemical markers and maternal age.
  • Evaluating the diagnostic performance of screening programs, typically at 15-18 weeks gestation.

    • Main Results:

    • Screening programs measuring hCG and AFP can detect over 60% of DS cases with a 5% screen-positive rate.
    • Controversies exist regarding the inclusion of E3 and the use of free beta-hCG versus intact hCG.
    • Urinary beta-core hCG is a potential new, highly discriminatory marker for DS screening.

    Conclusions:

    • Biochemical screening, combined with maternal age, significantly enhances the detection of Down's syndrome pregnancies.
    • Factors such as maternal weight, ethnicity, and gestational age can impact screening results.
    • Abnormal biochemical markers may also indicate other chromosomal abnormalities, necessitating further investigation.