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.