Congenital Condition Of Congenital Heart Defects - 1188 Words

INTRODUCTION Congenital Heart Defects (CHDs) include all structural anomalies of the heart and the intrathoracic great vessels resulting from the errors in morphogenesis, during development. The incidence of CHDs among live births is estimated to be 3.7 to 7.7 per 1000 (Ferencz et al. 1985). CHDs are etiologically heterogenous and it could be due to genetic (single gene defects, chromosomal abnormality) and or environmental (multifactorial, teratogens) or unknown factors (Michels and Ricardi 1990). From literature, it is seen, that 6 percent of CHDs are due to chromosomal abnormality (Greenwood et al. 1975). Conversely, the reported incidence of CHDs among individuals with chromosomal abnormality is around 30 percent. Objectives: In this paper, it is aimed to find out the occurrence of the chromosomal abnormality and its association to CHDs in consecutively referred patients to Division of Human Genetics, St John’s Medical College, Bangalore. MATERIAL AND METHODS A total of 65 patients with CHDs were referred for karyotyping and counseling, during a period of 5 years. There were 33 male and 32 female patients and their age ranged from neonate to 16 years. Patients’ details were recorded in a proforma. Chromosomal preparations were done from the modified leucocyte microculture method (Arakaki and Sparkes 1963) followed by Giemsa-Trypsin-Giemsa banding technique (Seabright 1971), automated photography and karyotyping.Show MoreRelatedCongenital Condition Of Congenital Heart Defects1423 Words   |  6 PagesCongenital heart defects are problems intrinsic to the heart that present at birth. They develop during fetal growth in utero mainly due to genetic malformations, environmental factors, and multifactorial reasons. The environment within which the fetus develops (the uterus) is a very crucial contribution to normal fetal growth and development. 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