Conclusions
In conclusions, our research shows that the application of whole exome sequencing technology can significantly improve the systemic prenatal diagnosis of skeletal abnormalities, and according to the different types of ultrasound detection results, WES has different detection rates for various skeletal abnormalities. Through our research, it is shown that fetal short limbs are the best detection targets for WES to detect skeletal abnormalities. In addition, the fetal limbs curved and nasal bone dysplasia are also important clinical phenotypes that suggest genetic variation-related skeletal abnormalities. However, the genetic basis of bone diseases is still unknown in other respects, indicating that new genes or non-genetic factors may cause these diseases.