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Related Experiment Video

Updated: Jun 10, 2026

Neural Tube Closure in Mouse Whole Embryo Culture

Neural Tube Closure in Mouse Whole Embryo Culture

Published on: October 21, 2011

Screening for open neural tube defects.

David A Krantz¹, Terrence W Hallahan, John E Sherwin

¹Biostatistics Department, NTD Labs/PerkinElmer, 80 Ruland Road, Melville, NY 11747, USA. david.krantz@perkinelmer.com

Clinics in Laboratory Medicine

|July 20, 2010

Summary

Maternal serum screening for open neural tube defects using alpha-fetoprotein (AFP) remains effective. Elevated AFP levels still indicate a higher risk for these congenital anomalies, despite dietary changes.

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Area of Science:

Obstetrics and Gynecology
Medical Diagnostics
Genetics

Background:

Maternal serum screening for congenital anomalies has a 30-year history.
Alpha-fetoprotein (AFP) screening was initially developed for open neural tube defects (ONTDs).
Multiple marker screening for Down syndrome evolved from early ONTD screening programs.

Purpose of the Study:

To evaluate the current relevance of AFP screening for open neural tube defects.
To address questions regarding the validity of risk assessment in ONTD screening.
To reaffirm the association between elevated AFP levels and ONTD risk.

Main Methods:

Review of historical data and current screening practices for maternal serum screening.
Analysis of the impact of folate enrichment on ONTD prevalence.
Examination of outcome ascertainment in ONTD screening programs.

Main Results:

Open neural tube defect screening remains a relatively straightforward diagnostic approach.
Questions exist about risk assessment validity due to folate enrichment and outcome ascertainment.
Elevated maternal serum AFP levels consistently correlate with an increased risk of ONTDs.

Conclusions:

Despite challenges, AFP screening remains a valuable tool for identifying pregnancies at risk for open neural tube defects.
The fundamental principle that elevated AFP indicates higher ONTD risk remains valid.
Further research may be needed to refine risk assessment in light of modern interventions.