The first-trimester screening to detect chromosomal abnormalities in pregnant women: A retrospective study

The first-trimester screening, conducted between weeks 11 and 14, includes nuchal translucency (NT) ultrasound and blood tests for Pregnancy-associated Plasma Protein A (PAPP-A) and human chorionic gonadotropin (hCG), offering insights into chromosomal abnormalities like Down syndrome and Edwards syndrome. The study analyzed data from 21 cases and found significant correlations among various variables, reaffirming known biological relationships. This study retrospectively analyzed outpatient records to assess the diagnostic efficacy of first-trimester Down and Edwards syndrome screening. PAPP-A showed a strong positive correlation with crown-rump length (CRL) and PAPP-A multiple of median (MoM), indicating a lower risk of genetic abnormalities with higher PAPP-A levels. The hCG was positively correlated with NT MoM and hCG MoM, suggesting a potential association with Down syndrome risk. The study underscores the importance of combining ultrasound and biochemical markers in first-trimester screening for chromosomal abnormalities. The significant correlations found further support the efficacy of the first-trimester combined test in early risk assessment for genetic disorders. The findings align with existing literature on early prenatal screening for genetic disorders, emphasizing the effectiveness of the first-trimester combined test in identifying risks early in pregnancy.