Genetic causes of the skeletal system abnormalities diagnosed by prenatal sonography with the use of exome sequencing: single institution experience.

In fetuses with localized abnormality of the skeletal system accompanied by additional structural anomalies chromosomal abnormality is the most common diagnosis. Exome sequencing increases the diagnostic yield in fetuses with skeletal system abnormalities especially in case of multiple abnormalities. This article is protected by copyright. All rights reserved.