Detection of trisomy 18 with Abernethy malformation by prenatal ultrasound: a case report / 中华围产医学杂志

We reported a case of trisomy 18 with Abernethy malformation diagnosed by prenatal ultrasound, which was confirmed by chromosome karyotyping after cordocentesis and fetal autopsy. At 24 gestational weeks, fetal sonography revealed a fetus with multiple malformations (cleft lip/cleft palate of left side, left radial dysplasia, hooked hands, bilateral pes valgus, ventricular septal defect, and congenital extrahepatic portocaval shunt), which was diagnosed as trisomy 18 syndrome with Abernethy malformation. The fetus's karyotype was 47, XX+18.