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      Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India

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          Abstract

          Background

          The 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion.

          Methods

          A total of 146 cases of cardiac malformation requiring tertiary care at a teaching hospital were prospectively screened for 22q11.2 microdeletion using fluorescence in situ hybridization test. Detailed clinical information was obtained as per guidelines of Tobias, et al (1999).

          Results

          Nine out of 146 patients (6.16%) was found to have 22q11.2 microdeletion. All the positive patients showed the presence of extra-cardiac features of 22q11.2 microdeletion syndrome. None of the cases with isolated cardiac defect were positive for microdeletion.

          Conclusions

          It seems that 22q11.2 microdeletion syndrome is over-suspected in children with isolated congenital heart defects. Screening for 22q11.2 microdeletion should be considered in those cardiac malformation cases which have extra-cardiac manifestations in the form of facial dysmorphism and hypocalcaemia.

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          A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

          W T Mahle, L Botto, L O'Leary … (2003)
          Although several studies describe the 22q11.2 deletion, population-based data are scant. Such data are needed to evaluate properly the impact, distribution, and clinical presentation of the deletion in the population. Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects. We evaluated data on infants who were born from 1994 through 1999 to women who resided in metropolitan Atlanta. We matched records from the Metropolitan Atlanta Congenital Defects Program (a population-based registry with active case ascertainment), the Sibley Heart Center at Children's Healthcare of Atlanta, and the Division of Medical Genetics at Emory University. We used birth certificate data for the denominators of the rates. We identified 43 children with laboratory-confirmed 22q11.2 deletion among 255 849 births. The overall prevalence was 1 in 5950 births (95% confidence interval: 1 in 4417 to 1 in 8224 births). The prevalence was between 1 in 6000 and 1 in 6500 among whites, blacks, and Asians and 1 in 3800 among Hispanics. Most affected children (81%) had a heart defect, and many (1 in 3) had major extracardiac defects (other than velopalatal anomalies), including anomalies of the central nervous system. Overall, the deletion contributed to at least 1 of every 68 cases of major heart defects identified in the total birth cohort and, in particular, to 1 of every 2 cases diagnosed with interrupted aortic arch type B, 1 of every 5 with truncus arteriosus, and 1 of every 8 with tetralogy of Fallot. The 22q11.2 deletion was common in this birth population. The clinical phenotype included a wide and variable spectrum of major cardiac and extracardiac anomalies. From these population-based data, one can estimate that at least 700 affected infants are born annually in the United States. Population-based estimates such as these should be useful to medical professionals and policy makers in planning for the optimal care of people with the 22q11.2 deletion.
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            Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.

            A Fasth, M Vujic, S Oskarsdóttir (2004)
            Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wide phenotypic spectrum and an estimated incidence of one in 4000 births. To assess the incidence and prevalence of the 22q11 deletion syndrome in the Western Götaland Region of western Sweden Children below 16 years of age with 22q11DS in a well defined catchment area and population of the Western Götaland Region were recruited. Diagnosis of 22q11DS was confirmed using a FISH (fluorescence in situ hybridisation) test. Proven 22q11 deletion was the demonstration of one signal in 11 metaphase spreads with fair quality. During the study period in the Western Götaland Region the mean annual incidence of 22q11DS was 14.1 per 100 000 live births. During the first five years the incidence was 18.1 per 100 000 live births for the whole region and 23.4 per 100 000 live births in Gothenburg, where a multidisciplinary specialist team for 22q11 DS is based. The prevalence was 13.2 per 100 000 children below 16 years of age in the whole region and 23.3 per 100 000 in Gothenburg. The number of individuals diagnosed depends on the experience and awareness of the syndrome among specialists who encounter these children and also the severity of the phenotype. The higher frequency of 22q11DS found in Gothenburg is an example of increased awareness. The true incidence and prevalence of this syndrome will only be found through population-based screening, but this would be too expensive and ethically questionable. Screening of specific risk populations would be more justified.
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              The annual incidence of DiGeorge/velocardiofacial syndrome.

              K Devriendt, J P Fryns, G Mortier … (1998)
              Article 0 comments Cited 82 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): BMC Med Genet
                Title: BMC Medical Genetics
                Publisher: BioMed Central
                ISSN (Electronic): 1471-2350
                Publication date Collection: 2010
                Publication date (Electronic): 23 June 2010
                Volume: 11
                Page: 101
                Affiliations
                [1 ]Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
                [2 ]Department of Paediatrics (Genetics Unit), All India Institute of Medical Sciences, New Delhi, India
                Article
                Publisher ID: 1471-2350-11-101
                DOI: 10.1186/1471-2350-11-101
                PMC ID: 2912258
                PubMed ID: 20573211
                SO-VID: 1f96410b-df42-45c1-bbe9-37a802d83d12
                Copyright © Copyright ©2010 Halder et al; licensee BioMed Central Ltd.
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 9 September 2009
                Date accepted : 23 June 2010
                Categories
                Subject: Research Article

                ScienceOpen disciplines: Genetics
                Data availability:
                ScienceOpen disciplines: Genetics

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