Significance of foetal autopsy in diagnosis of VACTERL association

VACTERL association occurs in 1 in 10000-40000 live births and is associated with vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula, renal dysplasia and limb defects. A 19-week-old male foetus with antenatal diagnosis of foetal hydronephrosis on antenatal ultrasound in the left kidney was medically terminated and brought for foetal autopsy. No other malformation was reported on antenatal scan. On autopsy, facial abnormalities, upper and lower limb defects, coronal vertebral clefts and imperforate anus with a two vessel -umbilical cord were found. Both environmental and genetic factors are considered to be responsible for this association. The present case illustrates the importance of foetal autopsy for making a definitive diagnosis in the missed sonographic findings like anal atresia and absence of upper-and lower-limb bones.