PRENATAL DIAGNOSIS OF ACHONDROPLASIA IN PRIMARY CARE SETTINGS – RECOGNISING THE SOFT MARKERS: A CASE REPORT
- Author:
Lili Husniati Yaacob
1
;
Wan Fadzleen Ezyani Mohd Fudzi
2
;
Razlina Abdul Rahman
2
;
Chiew Chea Lau
3
Author Information
- Publication Type:Case Reports
- Keywords: Prenatal diagnosis; Achondroplasia; Primary care
- From:Malaysian Family Physician 2024;19(1):1-5
- CountryMalaysia
- Language:English
- Abstract: PRENATAL DIAGNOSIS OF ACHONDROPLASIA IN PRIMARY CARE SETTINGS – RECOGNISING THE SOFT MARKERS: A CASE REPORT: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.
- Full text:2026090917550633280Prenatal diagnosis of achondroplasia.pdf
