PMID- 11937686
OWN - NLM
STAT- MEDLINE
DCOM- 20020829
LR  - 20230315
IS  - 0250-5991 (Print)
IS  - 0250-5991 (Linking)
VI  - 27
IP  - 2
DP  - 2002 Mar
TI  - Prenatal detection of aneuploidies using fluorescence in situ hybridization: a 
      preliminary experience in an Indian set up.
PG  - 155-63
AB  - Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic 
      technique which allows rapid detection of aneuploidies on interphase cells and 
      metaphase spreads. The aim of the present study was to evaluate FISH as a tool in 
      prenatal diagnosis of aneuploidies in high risk pregnancies in an Indian set up. 
      Prenatal diagnosis was carried out in 88 high-risk pregnancies using FISH and 
      cytogenetic analysis. Multicolour commercially available FISH probes specific for 
      chromosomes 13, 18, 21, X and Y were used. Interphase FISH was done on uncultured 
      cells from chorionic villus and amniotic fluid samples. FISH on metaphase spreads 
      was done from cord blood samples. The results of FISH were in conformity with the 
      results of cytogenetic analysis in all the normal and aneuploid cases except in 
      one case of structural chromosomal abnormality. The hybridization efficiency of 
      the 5 probes used for the detection of aneuploidies was 100%. Using these probes 
      FISH assay yielded discrete differences in the signal profiles between 
      cytogenetically normal and abnormal samples. The overall mean interphase disomic 
      signal patterns of chromosomes 13, 18, 21, X and Y were 94.45%; for interphase 
      trisomic signal pattern of chromosome 21 was 97.3%. Interphase FISH is very 
      useful in urgent high risk cases. The use of FISH overcomes the difficulties of 
      conventional banding on metaphase spreads and reduces the time of reporting. 
      However, with the limited number of probes used, the conventional cytogenetic 
      analysis serves as a gold standard at present. It should be employed as an 
      adjunctive tool to conventional cytogenetics.
FAU - Jobanputra, Vaideji
AU  - Jobanputra V
AD  - Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110 
      029, India.
FAU - Roy, Kalol Kumar
AU  - Roy KK
FAU - Kucheria, Kiran
AU  - Kucheria K
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - India
TA  - J Biosci
JT  - Journal of biosciences
JID - 8100809
SB  - IM
MH  - Adult
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Chorionic Villi Sampling
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - India
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Prenatal Diagnosis
EDAT- 2002/04/09 10:00
MHDA- 2002/08/30 10:01
CRDT- 2002/04/09 10:00
PHST- 2002/04/09 10:00 [pubmed]
PHST- 2002/08/30 10:01 [medline]
PHST- 2002/04/09 10:00 [entrez]
AID - 10.1007/BF02703772 [doi]
PST - ppublish
SO  - J Biosci. 2002 Mar;27(2):155-63. doi: 10.1007/BF02703772.