PMID- 16491010
OWN - NLM
STAT- MEDLINE
DCOM- 20060606
LR  - 20060221
IS  - 1015-3837 (Print)
IS  - 1015-3837 (Linking)
VI  - 21
IP  - 2
DP  - 2006
TI  - Correlation of abnormal rapid FISH and chromosome results from amniocytes for 
      prenatal diagnosis.
PG  - 235-40
AB  - Rapid fluorescence in situ hybridization (FISH) performed on 1,788 amniocenteses, 
      using Aneuvision (Vysis) probes for chromosomes 13, 18, 21, X, and Y, over 
      several years, yielded 115 cases with percentages of aneuploidy between 4 and 
      100%. All cases above 60% were confirmed to be positive by chromosome analysis. 
      Fifteen of forty-one cases that would be considered inconclusive by generally 
      accepted criteria (i.e. with less than 60% of cells with an abnormal signal 
      pattern) revealed lower cutoffs to be positive when confirmed by chromosome 
      analysis. For trisomy 21, 6 cases with percentages from 36 to 57% were positive; 
      4 of 7 cases with percentages from 22.5 to 33% were positive; 11 cases with 
      percentages of 13% or less were negative. Similar trends were found for 
      aneuploidies of 13, 18, X, and Y. However, the number of abnormal cases is still 
      too small to determine definitive cutoffs in the <60% gray zone. An average of 57 
      metaphases was analyzed for cases with FISH percentages below 60%. Despite the 
      wide range of abnormal FISH percentages for chromosomally positive cases, we 
      found no examples of autosomal mosaicism in this series. Although sex chromosome 
      mosaicism was cytogenetically evident in several cases, there was little direct 
      correlation between cytogenetic and rapid FISH results. FISH results involving 
      sex chromosomes were more frequently confounded by maternal cell contamination 
      and other technical factors.
CI  - (c) 2006 S. Karger AG, Basel
FAU - Wyandt, Herman E
AU  - Wyandt HE
AD  - Center for Human Genetics, Boston University School of Medicine, Boston, MA 
      02118, USA. hwyandt@bu.edu
FAU - Tonk, Vijay S
AU  - Tonk VS
FAU - Huang, Xin Li
AU  - Huang XL
FAU - Evans, Arthur T
AU  - Evans AT
FAU - Milunsky, Jeff M
AU  - Milunsky JM
FAU - Milunsky, Aubrey
AU  - Milunsky A
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PL  - Switzerland
TA  - Fetal Diagn Ther
JT  - Fetal diagnosis and therapy
JID - 9107463
SB  - IM
MH  - Amniocentesis/*methods
MH  - Aneuploidy
MH  - Chromosome Disorders/*diagnosis
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 18
MH  - Chromosomes, Human, Pair 21
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*standards
MH  - Interphase
MH  - Male
MH  - Metaphase
MH  - Predictive Value of Tests
MH  - Pregnancy
MH  - Sex Chromosome Aberrations
EDAT- 2006/02/24 09:00
MHDA- 2006/06/07 09:00
CRDT- 2006/02/24 09:00
PHST- 2005/02/01 00:00 [received]
PHST- 2005/04/08 00:00 [accepted]
PHST- 2006/02/24 09:00 [pubmed]
PHST- 2006/06/07 09:00 [medline]
PHST- 2006/02/24 09:00 [entrez]
AID - 89310 [pii]
AID - 10.1159/000089310 [doi]
PST - ppublish
SO  - Fetal Diagn Ther. 2006;21(2):235-40. doi: 10.1159/000089310.