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Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects

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 ab...

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Autores principales: Fauzdar, Ashish, Chowdhry, Mohit, Makroo, R. N., Mishra, Manoj, Srivastava, Priyanka, Tyagi, Richa, Bhadauria, Preeti, Kaul, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722628/
https://www.ncbi.nlm.nih.gov/pubmed/23901191
http://dx.doi.org/10.4103/0971-6866.112881
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author Fauzdar, Ashish
Chowdhry, Mohit
Makroo, R. N.
Mishra, Manoj
Srivastava, Priyanka
Tyagi, Richa
Bhadauria, Preeti
Kaul, Anita
author_facet Fauzdar, Ashish
Chowdhry, Mohit
Makroo, R. N.
Mishra, Manoj
Srivastava, Priyanka
Tyagi, Richa
Bhadauria, Preeti
Kaul, Anita
author_sort Fauzdar, Ashish
collection PubMed
description 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.
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spelling pubmed-37226282013-07-30 Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects Fauzdar, Ashish Chowdhry, Mohit Makroo, R. N. Mishra, Manoj Srivastava, Priyanka Tyagi, Richa Bhadauria, Preeti Kaul, Anita Indian J Hum Genet Original Article 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. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3722628/ /pubmed/23901191 http://dx.doi.org/10.4103/0971-6866.112881 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-accses article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Fauzdar, Ashish
Chowdhry, Mohit
Makroo, R. N.
Mishra, Manoj
Srivastava, Priyanka
Tyagi, Richa
Bhadauria, Preeti
Kaul, Anita
Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
title Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
title_full Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
title_fullStr Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
title_full_unstemmed Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
title_short Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
title_sort rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722628/
https://www.ncbi.nlm.nih.gov/pubmed/23901191
http://dx.doi.org/10.4103/0971-6866.112881
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