Systematic review and meta-analysis highlights incremental benefits of prenatal exome sequencing for fetal skeletal abnormalities.
(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.
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