Incremental Yield of Prenatal Exome Sequencing in Fetuses With Skeletal System Abnormalities: A Systematic Review and Meta-analysis

(Abstracted from Acta Obstet Gynecol Scand 2025;104:604–614) Fetal skeletal abnormalities (SAs) represent a broad range of disorders arising from genetic, environmental, or multifactorial causes, typically identified in mid-to-late gestation through prenatal imaging. They may involve variations in bone size, shape, number, or mineralization, as well as joint contractures or movement limitations, and are often categorized as dysplasia, affecting the entire skeletal framework, or dysostoses, involving localized bone malformations.