Diagnosis of Tetra-amelia in the First Trimester

Tetra-amelia is characterized by the absence of all four limbs. It is a rare congenital anomaly, with an incidence of 1.5–4 per 100,000 births. It occurs as a result of developmental interruption between 24th and 36th days after fertilization. Its etiology is not well known. It may be observed isolated or associated with other anomalies. We report a case showing absence of all the four limbs with associated absence of the mandible in a 25-year-old primigravida diagnosed in the first trimester at 13 weeks of gestation. Since tetra-amelia due to genetic inheritance was suspected, the family was offered the option of karyotype analysis and genetic consultation. However, the couple based on the poor prognosis opted for the termination of pregnancy. The autopsy findings confirmed the diagnosis based on the morphological examination of the abortus. No genetic analysis was undertaken.