Prenatal Diagnosis of Fraser Syndrome at 20 Weeks' Gestation: A Case Report and Review of Literature
Year: 2025
Type: article
Study design: Case Report
Abstract: Fraser syndrome is a rare congenital multisystem disorder, characterised by cryptophthalmos, syndactyly, and urogenital/renal anomalies, with high perinatal mortality. We report a pregnancy in which multiple severe fetal anomalies were identified at the routine anomaly scan (20 + 4 weeks' gestation), including central nervous system, craniofacial, renal, and limb findings highly suggestive of Fraser syndrome. The mother declined invasive testing and postmortem examination. Following multidisciplinary counselling regarding prognosis and options, the patient opted for medical termination of pregnancy. She experienced an allergic reaction to mifepristone and was managed with a misoprostol-based regimen. A stillborn female infant was delivered; the mother required a transfusion for postpartum haemorrhage due to retained placenta. Suspicion of Fraser syndrome on prenatal ultrasound should prompt multidisciplinary input and offer of genetic counselling. Where molecular or postmortem confirmation is not available, diagnosis may remain presumptive, but anticipatory counselling regarding poor prognosis and recurrence risk is essential.
Source: Cureus
DOI: 10.7759/cureus.96652
Author: Shanza Rana
Institution: Basildon Hospital
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4416138212