First-trimester ultrasound and biochemical markers of aneuploidy – case report

Prenatal screening for Down syndrome in the late first trimester involves the measurement of maternal serum markers and the fetal ultrasound marker, nuchal translucency (NT). Combining positive NT and positive maternal serum markers in first trimester (PAPP-A and free beta HCG), we have the indication to perform amniocentesis which remains the most accurate test helping to decide whether for continuation of pregnancy or termination in case of confirmed aneuploidy. Case report: Patient 29 years old, presenting in 13th week of gestation with positive biochemical screening test (double test risk 1: 52) and sonograp…