Abstract:

Trisomy 18, also known as Edwards syndrome, is the second most common autosomal trisomy after trisomy 21. It is a severe syndrome with a high neonatal and infant mortality and the management of the affected babies is usually challenging. With the advent of prenatal screening for congenital anomalies, some sonographic findings termed soft markers have been linked with the syndrome. If these soft markers are detected during ultrasound scanning, further scanning should be done to rule out other structural anomalies and karyotyping should be offered to the mother for confirmation. Once the diagnosis is made and the mother counselled on the severity of the syndrome, an informed decision could then be made. We present a foetus with ultrasound findings of two soft markers- choroid plexus cysts and echogenic bowel - with associated congenital heart disease during prenatal ultrasound screening. Genetic studies after delivery confirmed trisomy 18.