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Evaluating current policy for detecting mosaicism in amniotic fluid cultures: implications for current cell counting
Samuel P Caudill1, Daniel L Van Dyke, Andrew T L Chen
1Centers for Disease Control and Prevention, Clinical Chemistry Branch, Atlanta, GA 30341-3724, USA. spcl@cdc.gov
Statistics in Medicine
|January 29, 2005
Summary
This study evaluates cell counting guidelines for detecting chromosomal mosaicism in amniotic fluid. A 15-cell rule with 30 total cells may suffice for low-level mosaicism, reducing lab costs.
Area of Science:
- Clinical Cytogenetics
- Reproductive Genetics
Background:
- Chromosomal mosaicism presents challenges in clinical cytogenetic laboratories.
- Microscope analysis time is a significant cost factor.
Purpose of the Study:
- Evaluate the appropriateness of American College of Medical Genetics guidelines for minimum cell counts to exclude mosaicism in amniotic fluid.
- Develop and assess a new method for estimating missed mosaic cases.
Main Methods:
- Analysis of data from 26 cytogenetic laboratories.
- Computer simulation to evaluate a novel method for estimating missed mosaicism.
Main Results:
- A 15-cell counting rule with a minimum of 30 total cells may be adequate for detecting mosaicism when abnormal cell percentages are 15% or less.
- This approach may reduce costs without compromising detection of clinically significant mosaicism.
Conclusions:
- Current cell counting practices for amniotic fluid mosaicism may be refined.
- Proposed guidelines offer a potential cost-saving measure for cytogenetic laboratories while managing mosaicism detection.