Background: It becomes important to detect chromosomal abnormalities prenatally and early in the pregnancy. The present thesis is aimed to assess the performance of prenatal screening tests for chromosomal abnormalities detection i.e., dual marker test, first trimester ultrasound which measures the nuchal translucency and presence or absence of nasal bone, and their correlation with diagnostic test which is the karyotyping after amniocentesis.
Materials and Methods: It is a prospective & observational clinical study conducted in Obstetrics and gynaecology department of a tertiary care hospital. Two hundred pregnant females above 18 years of age attending ANC OPD (Antenatal Check-up Out-patient department) were considered for this study.
Results: In this study we found the presence of chromosomal abnormalities in 10% of participants. Combined sensitivity of NT and Dual marker test was found to be 83.75% in detecting chromosomal abnormalities.
Conclusions: It can be concluded at the end of the study that; prenatal diagnosis with ultrasonography for nuchal translucency either alone or in combination with dual marker test offered good detection rate for these chromosomal abnormalities.
Prenatal diagnosis, Dual marker test, Nuchal translucency, Nasal bone, Amniocentesis.