Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association

摘要

A 34-year-old, gravida 4, para 1, woman underwent amnio-centesis at 18 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. The woman's husband was 49 years old. She and her husband were non-consanguineous, and there was no family history of congenital malformations. The woman did not have diabetes mellitus during this pregnancy. Level II ultrasound at 22 weeks of gestation demonstrated absent stomach (Fig. 1), double outlet of right ventricle (Fig. 2), ventricular septal defect (Fig. 3), scoliosis with absence of the one rib (Fig. 4) and a radial club hand (Fig. 5). A diagnosis of VACTERL association was made. The parents elected to terminate the pregnancy.