title: Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects.
abstract: OBJECTIVE
  Women with high-risk pregnancies are offered prenatal diagnosis through amniocentesis for cytogenetic analysis of fetal cells. The aim of this study was to evaluate the effectiveness of the rapid fluorescence in situ hybridization (FISH) technique for detecting numerical aberrations of chromosomes 13, 21, 18, X and Y in high-risk pregnancies in an Indian scenario.
  
  
  METHODS
  A total of 163 samples were received for a FISH and/or a full karyotype for prenatal diagnosis from high-risk pregnancies. In 116 samples both conventional culture techniques for getting karyotype through G-banding techniques were applied in conjunction to FISH test using the AneuVysion kit (Abbott Molecular, Inc.), following standard recommended protocol to compare the both the techniques in our setup.
  
  
  RESULTS
  Out of 116 patients, we got 96 normal for the five major chromosome abnormality and seven patients were found to be abnormal (04 trisomy 21, 02 monosomy X, and 01 trisomy 13) and all the FISH results correlated with conventional cytogenetics. To summarize the results of total 163 patients for the major chromosomal abnormalities analyzed by both/or cytogenetics and FISH there were 140 (86%) normal, 9 (6%) cases were abnormal and another 4 (2.5%) cases were suspicious mosaic and 10 (6%) cases of culture failure. The diagnostic detection rate with FISH in 116 patients was 97.5%. There were no false-positive and false-negative autosomal or sex chromosomal results, within our established criteria for reporting FISH signals.
  
  
  CONCLUSIONS
  Rapid FISH is a reliable and prompt method for detecting numerical chromosomal aberrations and has now been implemented as a routine diagnostic procedure for detection of fetal aneuploidy in India.
authors.affiliation: Department of Transplant Immunology, Molecular Biology and Transfusion Medicine, Sarita Vihar, New Delhi, India.
authors.forename: Ashish
authors.initials: A
authors.lastname: Fauzdar
authors.forename: Mohit
authors.initials: M
authors.lastname: Chowdhry
authors.forename: R N
authors.initials: RN
authors.lastname: Makroo
authors.forename: Manoj
authors.initials: M
authors.lastname: Mishra
authors.forename: Priyanka
authors.initials: P
authors.lastname: Srivastava
authors.forename: Richa
authors.initials: R
authors.lastname: Tyagi
authors.forename: Preeti
authors.initials: P
authors.lastname: Bhadauria
authors.forename: Anita
authors.initials: A
authors.lastname: Kaul
keywords: Aneuploidy; birth defects; fluorescence in situ hybridization; prenatal diagnosis
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