Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2024
Objetive: To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).
Methods: A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People's Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA).
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
June 2019
Objective: To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality.
Methods: The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS).
Results: Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia.