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AFP and age screening for Down syndrome.

N Wald¹, H Cuckle

¹Department of Environmental & Preventive Medicine, Medical College of St Bartholomew's Hospital, London, England.

American Journal of Medical Genetics

|September 1, 1988

Summary

Combining maternal serum alpha-fetoprotein (AFP) with maternal age significantly improves Down syndrome screening effectiveness. This approach reduces the need for amniocentesis while increasing Down syndrome detection rates, offering better risk assessment for expectant mothers.

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Area of Science:

Prenatal diagnostics
Biochemical screening

Background:

Maternal serum alpha-fetoprotein (AFP) screening is established for neural tube defects.
Maternal age is a primary factor in Down syndrome risk assessment.

Purpose of the Study:

To evaluate the enhanced effectiveness of Down syndrome screening by combining maternal serum AFP levels with maternal age.
To determine the impact on amniocentesis rates and Down syndrome detection.

Main Methods:

Utilizing existing maternal serum AFP data from neural tube defect screening programs.
Integrating AFP levels (multiples of the normal median - MoM) with maternal age for risk calculation.
Developing computer-assisted software for risk estimation and positive result identification.

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Main Results:

Combining AFP and age reduces the percentage of women requiring amniocentesis for a given Down syndrome detection rate (e.g., 7% vs. 11% for 40% detection).
This integrated screening strategy offers more precise risk stratification for individual pregnancies.
Potential cost savings of $37,000 per 1000 women screened are achievable.

Conclusions:

Integrating maternal serum AFP with maternal age significantly enhances Down syndrome screening accuracy.
This combined approach optimizes diagnostic procedures and improves patient counseling regarding pregnancy risks.
Computer-assisted interpretation facilitates widespread clinical implementation of this improved screening method.