Abstract
Objective:βTo evaluate the sonographic characteristics of the fetuses with trisomyβ18 at 16β22 weeks of gestation.
Methods:βThe subjects were recruited from pregnant women undergoing prenatal sonographic examinations at 16β22 weeks of gestation and subsequently proven to be trisomyβ18. The results of ultrasound findings were retrospectively reviewed in 25 cases with chromosomes which were confirmed as trisomyβ18.
Results:βAll cases had at least one abnormal sonographic finding. There was only one case that had no structural abnormality, but fetal growth restriction was documented. The common sonographic findings included fetal growth restriction, choroid plexus cysts, cardiac anomalies, clenched hand, omphalocele and cleft lip. Fetal growth restriction was the most common finding demonstrated in nearly half of all cases. Other less common findings were diaphragmatic hernia, abnormal head shape, polyhydramnios, single umbilical artery.
Conclusion:βNearly all fetuses with trisomyβ18 had characteristic sonographic patterns of abnormalities demonstrated at midpregnancy. Detailed ultrasound at midpregnancy could effectively screen fetuses with trisomyβ18 for further genetic testing.