Prenatal Diagnosis of Shwachman-Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs.

Abstract

Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder with pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. Prenatal diagnosis is rare, with only one previous case. We report a novel antenatal SDS diagnosis at 22 weeks gestation. Ultrasound showed mildly straightened fetal ribs without significant shortening. Whole exome sequencing identified pathogenic variants in the SBDS gene, confirming SDS. This highlights the importance of subtle rib anomalies in prenatal ultrasound for SDS detection. It expands the prenatal phenotypic spectrum and emphasizes the need for further research. Genetic diagnosis is crucial for counseling, pregnancy management, and recurrence risk assessment.