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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...

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Autores principales: Colah, R.B., Gorakshakar, A.C., Nadkarni, A.H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
Materias:
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.
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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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