ArticleRadiology case reports2026
The Role of genetic sonography in chromosomal anomaly detection in low-resource settings: A case report of Edwards syndrome.
Article in Radiology case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Edwards syndrome (trisomy 18) is a severe chromosomal disorder associated with multiple congenital anomalies and high perinatal mortality. In low-resource settings where advanced prenatal screening and genetic testing are limited, genetic sonography plays a pivotal role in early detection. We report the case of a 37-year-old primigravida who presented at 20 weeks' gestation with multiple fetal anomalies detected on second-trimester ultrasound, including bilateral choroid plexus cysts, a strawberry-shaped skull, a ventricular septal defect, and persistently clenched fists. These hallmark findings raised strong suspicion for trisomy 18, later confirmed by amniocentesis (47, XX, +18). The pregnancy was subsequently terminated following multidisciplinary counseling. This case underscores the diagnostic value of detailed mid-trimester ultrasound in identifying chromosomal abnormalities when advanced genetic screening methods are inaccessible. Strengthening access to quality prenatal sonography and early antenatal care is essential to improve detection and enable informed decision-making in resource-limited environments.
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