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Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India
The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237256/ https://www.ncbi.nlm.nih.gov/pubmed/22089620 |
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author | Colah, R.B. Gorakshakar, A.C. Nadkarni, A.H. |
author_facet | Colah, R.B. Gorakshakar, A.C. Nadkarni, A.H. |
author_sort | Colah, R.B. |
collection | PubMed |
description | The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to determine the true burden of the disease. Although screening in antenatal clinics is being done at many centres, only 15-20 per cent of pregnant women register in antenatal clinics in public hospitals in the first trimester of pregnancy. There are only a handful of centres in major cities in this vast country where prenatal diagnosis is done. There is considerable molecular heterogeneity with 64 mutations identified, of which 6 to 7 common mutations account for 80-90 per cent of mutant alleles. First trimester foetal diagnosis is done by chorionic villus sampling (CVS) and DNA analysis using reverse dot blot hybridization, amplification refractory mutation system (ARMS) and DNA sequencing. Second trimester diagnosis is done by cordocentesis and foetal blood analysis on HPLC at a few centres. Our experience on prenatal diagnosis of haemoglobinopathies in 2221 pregnancies has shown that >90 per cent of couples were referred for prenatal diagnosis of β-thalassaemia after having one or more affected children while about 35 per cent of couples were referred for prenatal diagnosis of sickle cell disorders prospectively. There is a clear need for more data from India on non-invasive approaches for prenatal diagnosis. |
format | Online Article Text |
id | pubmed-3237256 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-32372562011-12-15 Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India Colah, R.B. Gorakshakar, A.C. Nadkarni, A.H. Indian J Med Res Review Article The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to determine the true burden of the disease. Although screening in antenatal clinics is being done at many centres, only 15-20 per cent of pregnant women register in antenatal clinics in public hospitals in the first trimester of pregnancy. There are only a handful of centres in major cities in this vast country where prenatal diagnosis is done. There is considerable molecular heterogeneity with 64 mutations identified, of which 6 to 7 common mutations account for 80-90 per cent of mutant alleles. First trimester foetal diagnosis is done by chorionic villus sampling (CVS) and DNA analysis using reverse dot blot hybridization, amplification refractory mutation system (ARMS) and DNA sequencing. Second trimester diagnosis is done by cordocentesis and foetal blood analysis on HPLC at a few centres. Our experience on prenatal diagnosis of haemoglobinopathies in 2221 pregnancies has shown that >90 per cent of couples were referred for prenatal diagnosis of β-thalassaemia after having one or more affected children while about 35 per cent of couples were referred for prenatal diagnosis of sickle cell disorders prospectively. There is a clear need for more data from India on non-invasive approaches for prenatal diagnosis. Medknow Publications & Media Pvt Ltd 2011-10 /pmc/articles/PMC3237256/ /pubmed/22089620 Text en Copyright: © The Indian Journal of Medical Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access 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 | Review Article Colah, R.B. Gorakshakar, A.C. Nadkarni, A.H. Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India |
title | Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India |
title_full | Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India |
title_fullStr | Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India |
title_full_unstemmed | Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India |
title_short | Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India |
title_sort | invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from india |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237256/ https://www.ncbi.nlm.nih.gov/pubmed/22089620 |
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