Diagnosis of Tetra-amelia in the First Trimester

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 opt ed for the termination of pregnancy. The autopsy findings confirmed the diagnosis based on the morphological examination of the abortus. No genetic analysis was undertaken.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research