Purpose: To evaluate the assumptions on which the American College of Medical Genetics (ACMG) Standards and Guidelines for detecting mosaicism in amniotic fluid cultures are based.
Methods: Data from 653 cases of amniotic fluid mosaicism were collected from 26 laboratories. A chi-square goodness-of-fit test was used to compare the observed number of mosaic cases with the expected number based on binomial distribution theory.
Results: Comparison of observed data from the in situ colony cases with the expected distribution of cases detected based on the binomial distribution did not reveal a significant difference (P = 0.525).
Conclusions: The empirical data fit the binomial distribution. Therefore, binomial theory can be used as an initial discussion point for determining whether ACMG Standards and Guidelines are adequate for detecting mosaicism.
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Ing, P., Van Dyke, D., Caudill, S. et al. Detection of Mosaicism in amniotic fluid cultures: A CYT02000 collaborative study. Genet Med 1, 94–97 (1999) doi:10.1097/00125817-199903000-00006
- prenatal diagnosis
- chromosomal mosaicism
- binomial distribution
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