PMID- 12575023
OWN - NLM
STAT- MEDLINE
DCOM- 20030812
LR  - 20041118
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 23
IP  - 2
DP  - 2003 Feb
TI  - Rapid prenatal diagnosis of Down syndrome using quantitative fluorescence in situ 
      hybridization on interphase nuclei.
PG  - 146-51
AB  - OBJECTIVES: Presently, conventional cytogenetic analysis of metaphase chromosomes 
      remains the reference approach in prenatal diagnosis. However, this method is 
      labor-intensive and time-consuming. The first step toward the rapid 
      identification of aneuploidies is achieved by interphase fluorescence in situ 
      hybridization (FISH) with centromeric or locus-specific probes. Spot counting 
      using this type of probes is a reliable approach, but is very time-consuming with 
      some technical and biological limitations. In this study, we present a new FISH 
      method using image cytometry for the detection of trisomy 21 within interphase 
      nuclei. METHODS: The method is based on a comparative quantitation of the 
      fluorescence signals emitted by whole chromosome 21 and 22 painting probes 
      cohybridized on interphase nuclei. The chromosomal imbalance was determined with 
      an automated image cytometer by detecting an abnormal ratio of both fluorescence 
      emissions when compared with the ratio obtained in normal cells. RESULTS: Ten 
      blood samples and twenty amniotic fluids were analyzed. Results from FISH and 
      standard cytogenetics were compared and 100% correlation was achieved. 
      CONCLUSIONS: This method, which enables an easy detection of chromosomal 
      imbalances without a need for metaphase preparations, can be applied to the 
      diagnosis of trisomy 21 and extended to other disorders with chromosomal 
      imbalances. Compared to other interphase FISH techniques, it avoids spot-scoring 
      difficulties.
CI  - Copyright 2003 John Wiley & Sons, Ltd.
FAU - Truong, Khuong
AU  - Truong K
AD  - Cytogenetique Moleculaire et Oncologie, UMR147, CNRS-Institut Curie, 26 rue 
      d'Ulm, 75248 Paris Cedex 05, France. khuong.truong@curie.fr
FAU - Gibaud, Anne
AU  - Gibaud A
FAU - Dupont, Jean-Michel
AU  - Dupont JM
FAU - Guilly, Marie-Noelle
AU  - Guilly MN
FAU - Soussaline, Francoise
AU  - Soussaline F
FAU - Dutrillaux, Bernard
AU  - Dutrillaux B
FAU - Malfoy, Bernard
AU  - Malfoy B
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Cell Nucleus/*genetics
MH  - Cells, Cultured
MH  - Chromosomes, Human, Pair 21
MH  - Chromosomes, Human, Pair 22
MH  - Cytogenetic Analysis
MH  - Down Syndrome/*diagnosis/*genetics
MH  - Feasibility Studies
MH  - Female
MH  - Gene Dosage
MH  - Humans
MH  - Image Cytometry/*methods
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Interphase/genetics
MH  - Karyometry
MH  - Maternal Age
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - Sensitivity and Specificity
EDAT- 2003/02/08 04:00
MHDA- 2003/08/13 05:00
CRDT- 2003/02/08 04:00
PHST- 2003/02/08 04:00 [pubmed]
PHST- 2003/08/13 05:00 [medline]
PHST- 2003/02/08 04:00 [entrez]
AID - 10.1002/pd.558 [doi]
PST - ppublish
SO  - Prenat Diagn. 2003 Feb;23(2):146-51. doi: 10.1002/pd.558.