Indian Journal of Obstetrics and Gynecology Research
Official Publication of Innovative Education and Scientific Research Foundation
Official Publication of Innovative Education and Scientific Research Foundation
Print ISSN: 2394-2746
Online ISSN: 2394-2754
CODEN : IJOGCS
Indian Journal of Obstetrics and Gynecology Research (IJOGR) open access, peer-reviewed quarterly journal publishing since 2014 and is published under auspices of the Innovative Education and Scientific Research Foundation (IESRF), aim to uplift researchers, scholars, academicians, and professionals in all academic and scientific disciplines. IESRF is dedicated to the transfer of technology and research by publishing scientific journals, research content, providing professional’s membership, and conducting conferences, seminars, and award more...Original Article
Author Details :
Volume : 11, Issue : 4, Year : 2024
Article Page : 540-547
https://doi.org/10.18231/j.ijogr.2024.097
Abstract
Background: Among the chromosomal aneuploidies Down syndrome is the most common type. This study was conducted to detect the frequency of chromosomal abnormalities in the paediatric patients in one year duration at a tertiary care centre.
Materials and Methods: In cytogenetic lab, clinically suspected cases were referred from different department like pediatrics, neonataology, obstetrics and gynecology for Karyotyping test for the confirmation of aneuploidies. They were sampled for Karyotyping.
Result: Incidence of aneuploidies among live-births in a year (April 2023-March2024) was 4.68/1000. Down syndrome with trisomy+21 was found in all individual (100%) of 12 cases. Among cardiac disorder, ASD, VSD and VSD+ ASD were (complex cardiac defect) account for 33.33%. Other common clinical features were also seen like slanting eyes, sandal gap, mangloid facials, single simian crease, low set ears, depressed nasal bridge, and protruding tongue
Conclusion: In this study prevalence of DS in Chhattisgarh were 4.68/1000. Most of the cases of the study were born from mother of younger age (19-27yrs). For early diagnosis clinician should counsel the younger pregnant women for such aneuploidies so that they can take appropriate measures.
Keywords: Aneuploidies, Karyotype, Down syndrome.
How to cite : Sinha M B, Padhi P, Agrawal S, Sahu N, Chromosomal aneuploidies: A tertiary care center study. Indian J Obstet Gynecol Res 2024;11(4):540-547
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