Detection of major anomalies during the first and early second trimester: Single-center results of six years

OBJECTIVE: Fetal structural malformations affect approximately 2-3% of all pregnancies. Only focusing on trisomy screening in first trimester and deferring the anatomic screening to second trimester may result with late detection of major anomalies that can be diagnosed earlier with careful examination. MATERIAL AND METHODS: This was a descriptive study of retrospective data that were obtained from all terminated single pregnancies due to ultrasonographic findings of major anomalies from 2011 to 2016 in our department. The study was based on a chart review and only abnormalities that were diagnosed before the 16(th) week were included. RESULTS: Two hundred forty-four first trimester pregnancy terminations were performed. In total, 273 anomalies were detected in the 244 patients. Cranial NTD comprised 32% of all anomalies (n=89). Fifteen percent of anomalies (n=41) needed detailed anatomic scanning for early diagnosis. CONCLUSION: In this study, we presented the number and percentage of our early diagnosed anomalies by years, as well showed our diagnostic performance for specific anomalies such as atrioventricular septal defect during a 5-year period. The study provides valuable information for future studies in Turkey and shows the need for an anatomic scan protocol while performing aneuploidy screening during early gestation.