Diagnostic Approach to Prenatally Diagnosed Limb Abnormalities

Limb formation occurs at 4–12 weeks gestation and involves many genes and gene families. The prevalence of limb abnormalities is approximately 6/10,000 live births, with higher incidence in the upper limbs compared to the lower limbs (3.4/10,000 and 1.1/10,000 respectively). Limb abnormalities are morphologically and etiologically heterogenous group of abnormalities and most are amenable for prenatal diagnosis. The investigation and counselling of woman/couple with prenatally diagnosed fetal limb abnormality requires a multidisciplinary team including obstetrician, radiologist, clinical geneticist, neonatologist/pediatrician and a pediatric orthopedic surgeon. Other specialties may be needed if other abnormalities are detected.