PMID- 23901191
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130731
LR  - 20211021
IS  - 0971-6866 (Print)
IS  - 1998-362X (Electronic)
IS  - 1998-362X (Linking)
VI  - 19
IP  - 1
DP  - 2013 Jan
TI  - Rapid-prenatal diagnosis through fluorescence in situ hybridization for 
      preventing aneuploidy related birth defects.
PG  - 32-42
LID - 10.4103/0971-6866.112881 [doi]
AB  - BACKGROUND AND 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. MATERIALS AND 
      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. CONCLUSION: 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.
FAU - Fauzdar, Ashish
AU  - Fauzdar A
AD  - Department of Transplant Immunology, Molecular Biology and Transfusion Medicine, 
      Sarita Vihar, New Delhi, India.
FAU - Chowdhry, Mohit
AU  - Chowdhry M
FAU - Makroo, R N
AU  - Makroo RN
FAU - Mishra, Manoj
AU  - Mishra M
FAU - Srivastava, Priyanka
AU  - Srivastava P
FAU - Tyagi, Richa
AU  - Tyagi R
FAU - Bhadauria, Preeti
AU  - Bhadauria P
FAU - Kaul, Anita
AU  - Kaul A
LA  - eng
PT  - Journal Article
PL  - India
TA  - Indian J Hum Genet
JT  - Indian journal of human genetics
JID - 101223637
PMC - PMC3722628
OTO - NOTNLM
OT  - Aneuploidy
OT  - birth defects
OT  - fluorescence in situ hybridization
OT  - prenatal diagnosis
COIS- Conflict of Interest: None declared.
EDAT- 2013/08/01 06:00
MHDA- 2013/08/01 06:01
PMCR- 2013/01/01
CRDT- 2013/08/01 06:00
PHST- 2013/08/01 06:00 [entrez]
PHST- 2013/08/01 06:00 [pubmed]
PHST- 2013/08/01 06:01 [medline]
PHST- 2013/01/01 00:00 [pmc-release]
AID - IJHG-19-32 [pii]
AID - 10.4103/0971-6866.112881 [doi]
PST - ppublish
SO  - Indian J Hum Genet. 2013 Jan;19(1):32-42. doi: 10.4103/0971-6866.112881.