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 amniocentesis 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. A 525-g male fetus was delivered with a radial club hand (Fig. 6). X-ray showed a gracile radius and reduced first metacarpal and phalanges of the right thumb (Fig. 7) and hypoplastic vertebral bodies of T10 to T12 causing scoliosis with convexity to the left (Fig. 8). Array comparative genomic hybridization analysis of fetal tissues revealed no genomic imbalances.