Diagnostic value of systematic ultrasonography for trisomy 18 syndrome in fetuses before 16 weeks gestation

Abstract Purpose To explore the diagnostic value of systematic fetal ultrasonography for trisomy 18 (T18) syndrome before 16 weeks gestation. Methods A total of 12 fetuses with T18 were selected as research subjects and their nuchal translucency (NT) screening and fetal systematic ultrasonographic images acquired at 11–15 weeks were retrospectively analyzed. Results In the 12 fetuses’ NT screening, ten fetuses showed NT thickening, one showed nuchal cystic hygroma, four showed reversed a-wave ductus venosus flow, and three showed omphalocele. The most common anomalies on the systematic ultrasonography before 16 weeks gestation were cardiac defects (12/12, 100%), omphalocele (4/12, 33.3%), limb anomalies (5/12, 41.7%), and facial anomalies (3/12, 25.0%). Seven of the 12 fetuses had multiple structural malformations: three had two structural malformations (25.0%), three had three structural malformations (25.0%), and one had four structural malformations (8.3%). Conclusion Systematic fetal ultrasonography before 16 weeks gestation can detect most of the structural malformations of T18, effectively shortening the prenatal diagnosis time. It is therefore of great importance for reducing the birth rate of children with T18 and minimizing the physical and mental damage to mothers and their families.