Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study

Abstract

Introduction: The chromosomal anomalies are the most significant cause of human genetic disorders. Various types of structural and numerical chromosome aberrations have been identified in clinically suspect of genetic disorders. These aberrations are involved in different kinds of syndromes, infertility, amenorrhea, recurrent pregnancy loss, developmental delay, disorder of sexual development, congenital abnormalities and dysmorphic features etc. Aim: To determine various types of structural and numerical chromosome aberrations and its frequencies from hospital referred patients. Materials and Methods: In the present cross-sectional study, chromosomal analysis was done for various types of suspected 2215 referred patients. The patients were referred from, mainly, Obstetrics and Gynaecology, Paediatrics departments of Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India during the period of January 2000 to June 2019. Results: The overall frequency of chromosomal abnormalities was 12.23% (271/2215). Out of 271 cytogenetic abnormal patients, numerical chromosome abnormalities were found in 204 (75.28%) and structural chromosome abnormalities were detected in 67 (24.72%) patients. Abnormal cytogenetic findings were observed in 164 of 342 Down syndrome (47.95%), 36 of 383 Primary amenorrhea (9.40%), 20 of 768 recurrent pregnancy loss (2.60%), 30 of 473 male infertility (6.34%), 6 of 72 Ambiguous genitalia (8.33%), 13 of 147 congenital abnormalities (8.84%), 2 of 30 psychiatric disorder (6.66%) of patients. Conclusion: Cytogenetic analysis is essential for diagnosis of genetic disorders and to provide precise diagnosis. Chromosomal analysis helps in appropriate genetic counseling to assess the risk of recurrences and to take measures for prevention and management of inherited genetic diseases and disorders. Moreover, there are no registries or databases of genetic disorders in India. Compilation of these kinds of studies will help in making databases or registries of genetic disorders.

Keywords

• chromosomal abnormality
• down syndrome
• male infertility
• primary amenorrhea
• recurrent pregnancy loss