Prenatal diagnosis of achondroplasia in primary care settings - Recognising the soft markers: A case report.

Abstract

Achondroplasia, a genetic disorder causing limb shortening, is the most common form of disproportionate dwarfism. It can be diagnosed prenatally through sonographic findings and postnatally through clinical and radiological findings. Currently, an increasing number of affected foetuses are diagnosed antenatally since prenatal ultrasonography is routinely conducted in primary care settings. Herein, we present the case of a healthy 26-year-old primigravida who received a diagnosis of achondroplasia for her foetus during the late third trimester based on her prenatal ultrasonographic findings. Following birth, the diagnosis was confirmed by the baby's clinical and radiological findings, which showed shortening of the long bones. This case highlights the importance of recognising the soft markers of achondroplasia during routine third-trimester ultrasonography in primary care settings. Early diagnosis of achondroplasia is important to ensure timely referral to tertiary centres and adequate preparation of parents for the delivery of their baby.