Detection of trisomy 18 with Abernethy malformation by prenatal ultrasound: a case report
10.3760/cma.j.issn.1007-9408.2018.11.006
- VernacularTitle:产前超声诊断胎儿18-三体综合征并Abernethy畸形一例
- Author:
Yanpeng SONG
1
;
Zhaolu SONG
;
Lingyu SUN
;
Taotao CHEN
Author Information
1. 266300,青岛市胶州中心医院特检科
- Keywords:
Trisomy 18 syndrome;
Vascular malformations;
Portal vein;
Ultrasonography,prenatal
- From:
Chinese Journal of Perinatal Medicine
2018;21(11):750-752
- CountryChina
- Language:Chinese
-
Abstract:
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.
