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Related Experiment Videos

Practice variations in biochemical screening for Down syndrome.

R R Lenke1, K Walkowicz, K Baker

  • 1Indiana Center for Prenatal Diagnosis, Indianapolis 46260, USA.

Genetic Testing
|January 1, 1997
PubMed
Summary

Obstetricians often deviate from established guidelines for Down syndrome screening. Many providers use varied risk assessments and cut-offs for biochemical screening, especially for women over 35.

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Area of Science:

  • Maternal-Fetal Medicine
  • Prenatal Diagnostics
  • Genetics

Background:

  • Professional organizations recommend aligning biochemical screening cut-offs with age-based prenatal diagnosis risks for Down syndrome.
  • Guidelines suggest multiple marker testing is not a routine alternative to prenatal cytogenetic diagnosis for women over 35.

Purpose of the Study:

  • To assess current obstetric practices regarding Down syndrome screening recommendations.
  • To evaluate adherence to guidelines from the American College of Obstetricians and Gynecologists and the American College of Medical Genetics.

Main Methods:

  • A questionnaire was distributed to members of the Society of Perinatal Obstetricians.
  • Inquiries focused on maternal age for counseling/amniocentesis, adherence to guidelines, and adjustment of risk based on serum screening for women aged 35 and over.

Main Results:

  • Most providers consider age 35 a distinct risk factor.
  • Significant variability exists in quoted risks and biochemical screening cut-offs for women aged 35.
  • A majority of respondents adjust age-related risk based on serum screening (74% increase, 49% decrease).

Conclusions:

  • Current practices in Down syndrome screening show considerable variation among perinatal obstetricians.
  • Adherence to established guidelines regarding risk assessment and screening cut-offs is inconsistent.
  • Further standardization is needed to ensure consistent and evidence-based prenatal screening for Down syndrome.

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