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Related Experiment Videos

Current state of screening for Down's syndrome.

Stephen Holding1

  • 1Immunology Department, Hull and East Yorkshire Hospitals NHS Trust, Hull Royal Infirmary, UK. steve.holding@hey.nhs.uk

Annals of Clinical Biochemistry
|February 21, 2002
PubMed
Summary

Antenatal screening for Down's syndrome uses maternal age and serum markers. Diverse UK practices exist, with future screening aiming to reduce invasive procedures through new technologies.

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Obstetrics

Background:

  • Down's syndrome affects approximately 1.3 in 1000 births.
  • Maternal age is a primary factor in Down's syndrome risk.
  • Antenatal screening practices in the UK are varied due to the absence of a national policy.

Purpose of the Study:

  • To review current antenatal screening practices for Down's syndrome.
  • To highlight the diversity in screening protocols.
  • To discuss the role of maternal age, serum markers, and ultrasound in risk assessment.

Main Methods:

  • Utilizing maternal age and serum marker levels for risk calculation.
  • Incorporating ultrasound markers in some screening protocols.
  • Describing adjustments for factors influencing marker levels.

Main Results:

  • Screening can occur in the first or second trimester.
  • Combination of maternal age with up to six serum markers and/or ultrasound markers is used.
  • Some centers restrict screening to specific maternal age groups.

Conclusions:

  • Current diagnostic methods involve invasive procedures with associated risks.
  • Future screening technologies, including fetal cell identification in maternal blood, may reduce the need for invasive testing.
  • Robust laboratory monitoring and quality management are crucial for reliable screening results.

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