Analysis of Fetal Chromosome Abnormalities by Karyotpye

Abstract

Prenatal screening is a crucial method employed during the fetal stage to detect and intervene early, thereby ensuring the health of newborn babies. This approach serves to enhance the overall quality of the population and mitigate the severe consequences associated with birth defects. Prenatal screening encompasses various techniques, including epidemiological investigations, fetal imaging ultrasound, maternal blood screening, and amniotic fluid screening by karyotype technique. The process involves extracting fetal chromosomes from cells present in the amniotic fluid, followed by cell culture and hypotonic treatment. Subsequently, these chromosomes are stained with G-band and examined under a microscope. The results obtained from prenatal screening in a sample of 121 patients, with an average age of 32 ± 6.69, indicated that 21% of pregnant women had experienced a miscarriage, 23.1% had previously given birth to a malformed baby, 8.3% of families had a genetic disease, and 5% of parents exhibited chromosomal abnormalities. Among the 51 patients screened using the Double test, 26.45% of fetuses exhibited a high risk of birth defects, whereas the Tripple test identified a high risk in 9.09% of the 19 cases. Chromosome analysis of the 121 cases revealed that 15.7% of the fetuses exhibited chromosomal abnormalities, with Edwards syndrome accounting for 5.78%, Down syndrome accounting for 4.96%, chromosomal abnormalities accounting for 3.30%, Patau syndrome accounting for 0.83%, and Turner syndrome accounting for 0.83%. Age over 35 years (r = 0.08 and OR = 0.63), history of miscarriage (r = 0.05 and OR = 1.38), family history of hereditary disease (r = 0.04 and OR = 1.38), and parental chromosomal mutations
(r = 0.01 and OR = 1.08) were all found to have a strong positive correlation with fetal abnormalities. Additionally, positive correlations were observed between the results of ultrasound screening
(r = 0.22 and OR = 5.48) and blood screening (r = 0.14 and OR = 1.22).