THE PREVALENCE OF CHROMOSOMAL ABNORMITIES DIAGNOSED PRENATALLY IN A AN AND POPULATION

Background: The most important factor contributing to human genetic problems is chromosomal abnormalities. It is crucial to choose screening tests and diagnostic procedures that are exact, accurate, safe, and able to be conducted during early pregnancy in order to make the best-informed choice possible while taking into account the probable outcomes of pregnancy. Method and Material: In the present prospective study chromosomal analysis was done for various types of suspected 900 referred patients. The patients were referred from mainly Gynaecology hospital Usha Nursing Home and Sat Kaival Hospital, Anand in association with Gene Care Accuris Laboratory, Surat from June 2021 to March 2023. Result: The overall frequency of chromosomal abnormalities was 2.5% (23/900). Out of 23 cytogenetic abnormal patients, numerical abnormalities were found in 21(2.33%) and structural abnormalities we detected in 02(0.22%) patients. The most common autosomal abnormalities were Down’ syndrome 18(2%). Another abnormality was Edward’s Syndrome 03(0.33%). Chromosomal structural disorder occupied 02(0.22%) including robertsonian translocation. Conclusion: To avoid the delivery of foetuses with chromosomal disorders, karyotype screening of amniotic fluid is a crucial strategy. Our results underline the significance of cytogenetic investigations in individuals with signs of prenatal diagnosis because an aberrant finding not only gives patients the option of terminating or continuing their pregnancies but also serves as a foundation for genetic counselling and helps in creating a healthier society.