Pregnant women Enrollment,specimens and DNA preparation
We selected a total of 79 pregnant women from the third affiliated hospital of Zhengzhou University, China, from August 2018 to April 2020, who had undergone whole exome sequencing due to fetal ultrasound suggesting skeletal dysplasia. Sample entry requirements: pregnant women between 18-36 weeks of gestation, ultrasound examination shows femur length <-2SD or humerus length <-2SD or other skeletal development abnormalities: such as nasal bone dysplasia, limb bone deformity, skull or clavicle development Exception etc. We performed amniocentesis on the enrolled pregnant women for subsequent DNA extraction. Afterwards, we used QIAGEN 69504 blood and tissue DNA extraction kit for DNA extraction from amniotic fluid, peripheral blood of pregnant women and their husbands.