Prenatal findings of patients diagnosed with Down syndrome: The value of ultrasound and biochemical screening

Objective: The aim of this study was to determine the association among ultrasound findings, biochemical markers, and Down syndrome Method: A retrospective analysis was conducted of the files and electronic records of 70 patients who underwent invasive procedures between July 2006 and May 2013. Results: Forty-nine of the 70 patients had ultrasound findings (70%). Thirty-five patients had nuchal translucency (NT) measurements, 17 of whom had elevated NT, above the 95th percentile. Twenty-nine patients had first-trimester biochemical markers; the mean PAPP-A was 0.5 MoM (±0.27) and the mean fB-HCG was 2.27 MoM (±1.55). Twenty-six patients had second-trimester biochemical markers; the mean AFP was 0.7 MoM (±0.27), the mean uE3 was 0.8 MoM (±0.33), and the mean HCG was 2.32 MoM (±1.33). Two or more minor anomalies were found in 45% of the patients, and 20% had at least one major anomaly. Conclusions: In this retrospective analysis, genetic sonograms detected minor or major anomalies in 70% of the patients. Eighteen patients had normal NT values, ten patients showed increased biochemical risk in the combined test, and 12 patients had ultrasonographic anomalies in the second trimester. Multiple studies have confirmed that, in expert hands, mid-trimester ultrasound markers are highly sensitive for Down syndrome detection. Keywords: screening, soft markers, down syndrome, genetic sonogram