VACTERL Association in a Fetus With a Normal Genetic Profile

VACTERL association is a statistical association of vertebral(V), anal(A), cardiac(C), tracheoesophageal(TE), renal(R), and limb(L) abnormalities (VACTERL). Diagnosis of VACTERL can be made if anomalies in three or more organ systems indicated by the acronym are present and no other recognizable pattern of human malformations exists. We hereby present a case of a primigravida in her 20s, whose prenatal scan at 13 weeks of gestation revealed a fetus having a short spine, single outflow tract, and increased nuchal translucency. Chromosome microarray on amniotic fluid showed no quantitative genomic imbalance. A repeat scan at 21 weeks disclosed lumbar scoliosis with hemivertebrae, tetralogy of Fallot, and a single umbilical artery. After undergoing counselling, in light of the adverse outcomes and poor quality of life of the offspring, the parents decided to terminate the pregnancy. The abortus was subsequently sent to the histopathology lab for autopsy. The gross examination of the fetus unveiled an umbilical cord with only two vessels, right congenital talipes equinovarus (club foot), left congenital talipes equinovalgus, and right foot polydactyly. Internal examination of the cardiovascular system verified the presence of tetralogy of Fallot. The kidogram of the fetus was consistent with a butterfly vertebral body of D11 and D12 with right-side hemivertebrae. This case illustrates the importance of foetal autopsy for confirming the prenatal diagnosis and identifying abnormalities in syndromes or associations. The classification especially plays a crucial role in the case of recurrent abortions to point out the underlying aetiology and counsel the parents regarding the recurrence risk.