Detection of mosaicism in amniotic fluid cultures: a CYTO2000 collaborative study.

Academic Article


  • 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.
  • Published In


  • Amniotic Fluid, Binomial Distribution, Cells, Cultured, Chi-Square Distribution, Cytogenetic Analysis, Female, Guidelines as Topic, Humans, Karyotyping, Mosaicism, Pregnancy, Prenatal Diagnosis
  • Digital Object Identifier (doi)

    Author List

  • Ing PS; Van Dyke DL; Caudill SP; Reidy JA; Bice G; Bieber FR; Buchanan PD; Carroll AJ; Cheung SW; DeWald G
  • Start Page

  • 94
  • End Page

  • 97
  • Volume

  • 1
  • Issue

  • 3