title: Detection of mosaicism in amniotic fluid cultures: a CYTO2000 collaborative study.
abstract: OBJECTIVE
  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.
authors.affiliation: Boys Town National Research Hospital, Omaha, Nebraska, USA.
authors.forename: P S
authors.initials: PS
authors.lastname: Ing
authors.forename: D L
authors.initials: DL
authors.lastname: Van Dyke
authors.forename: S P
authors.initials: SP
authors.lastname: Caudill
authors.forename: J A
authors.initials: JA
authors.lastname: Reidy
authors.forename: G
authors.initials: G
authors.lastname: Bice
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authors.initials: FR
authors.lastname: Bieber
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authors.initials: PD
authors.lastname: Buchanan
authors.forename: A J
authors.initials: AJ
authors.lastname: Carroll
authors.forename: S W
authors.initials: SW
authors.lastname: Cheung
authors.forename: G
authors.initials: G
authors.lastname: DeWald
authors.forename: R P
authors.initials: RP
authors.lastname: Donahue
authors.forename: H A
authors.initials: HA
authors.lastname: Gardner
authors.forename: J
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authors.lastname: Higgins
authors.forename: L Y
authors.initials: LY
authors.lastname: Hsu
authors.forename: M
authors.initials: M
authors.lastname: Jamehdor
authors.forename: E A
authors.initials: EA
authors.lastname: Keitges
authors.forename: C H
authors.initials: CH
authors.lastname: Laundon
authors.forename: F W
authors.initials: FW
authors.lastname: Luthardt
authors.forename: J
authors.initials: J
authors.lastname: Mascarello
authors.forename: K M
authors.initials: KM
authors.lastname: May
authors.forename: J M
authors.initials: JM
authors.lastname: Meck
authors.forename: C
authors.initials: C
authors.lastname: Morton
authors.forename: S
authors.initials: S
authors.lastname: Patil
authors.forename: D
authors.initials: D
authors.lastname: Peakman
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
authors.forename: N
authors.initials: N
authors.lastname: Rao
authors.forename: W G
authors.initials: WG
authors.lastname: Sanger
authors.forename: D F
authors.initials: DF
authors.lastname: Saxe
authors.forename: S
authors.initials: S
authors.lastname: Schwartz
authors.forename: G S
authors.initials: GS
authors.lastname: Sekhon
authors.forename: G H
authors.initials: GH
authors.lastname: Vance
authors.forename: H E
authors.initials: HE
authors.lastname: Wyandt
authors.forename: C W
authors.initials: CW
authors.lastname: Yu
authors.forename: J
authors.initials: J
authors.lastname: Zenger-Hain
authors.forename: A T
authors.initials: AT
authors.lastname: Chen
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology*; D016010:Binomial Distribution; D002478:Cells, Cultured; D016009:Chi-Square Distribution; D020732:Cytogenetic Analysis / Q000379:methods* / Q000592:standards; D005260:Female; D017408:Guidelines as Topic / Q000592:standards*; D006801:Humans; D007621:Karyotyping / Q000379:methods; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000592:standards