Prenatal diagnosis of musculoskeletal anomalies

Musculoskeletal anomalies are not uncommon in prenatal life. They can be either sporadic or part of chromosomal syndromes causing prenatal morbidity and mortality. The prenatal diagnosis of musculoskeletal anomalies is based on information assembled from various imaging modalities and from biochemical and genetic workups. The prenatal diagnosis can serve as a prognostic tool and in counseling the parents. Among the imaging methods, ultrasonography is the most popular and cost effective in observing and following fetal development from the very early stages of gestation. Transvaginal sonography can detect and identify most of the normal and the specific pathologic changes very close to the stage of their embryogenic development. From a practical point of view, early detailed transvaginal sonography screening at 14 to 15 weeks of gestation is very useful while late detection at 20 to 23 weeks of gestation may provide some additional information in low-risk pregnancies. Very early screening, even during the ninth week, may be indicated in high-risk pregnancies. Additional genetic counseling is recommended when abnormal findings are suspected. We summarize the diagnostic approach and the information available for the most common musculoskeletal anomalies.