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.