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Evaluating current policy for detecting mosaicism in amniotic fluid cultures: implications for current cell counting practices
Author(s) -
Caudill Samuel P.,
Van Dyke Daniel L.,
Chen Andrew T. L.,
Reidy John A.,
Ing Paul S.,
Schwartz Stuart,
Vance Gail H.
Publication year - 2005
Publication title -
statistics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.996
H-Index - 183
eISSN - 1097-0258
pISSN - 0277-6715
DOI - 10.1002/sim.2040
Subject(s) - cell counting , amniotic fluid , counting process , cytological techniques , pathology , biology , computer science , medicine , statistics , cell , genetics , mathematics , pregnancy , fetus , cell cycle
Chromosomal mosaicism is one of the most vexing problems for clinical cytogenetic laboratories and personnel time used for analysis at the microscope is one of the principle costs in cytogenetic laboratories. We use data collected from 26 cytogenetic laboratories to evaluate whether the American College of Medical Genetics guidelines for minimum number of cells to count to exclude mosaicism in amniotic fluid specimens is appropriate. An accurate estimate of the number of mosaics that are missed by current cell counting practices is an important step in this process. Thus, we present a new method for estimating the number of mosaics that are missed and we use computer simulation to evaluate this new method. Our results indicate that if the clinical significance of mosaicism is suspected to be minimal for certain cytogenetic anomalies when the percentage of abnormal cells is 15 per cent or less, then it may be sufficient to use a 15‐cell counting‐rule‐for‐detection along with a minimum total cell count of 30 regardless of whether abnormal cells or normal cells are in the minority. Published in 2005 by John Wiley & Sons, Ltd.