期刊： PRENATAL DIAGNOSIS, 2022; 42 (12)
Objective To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome (CSS) with regard to the labo......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (9)
Objective To evaluate the impact of maternal exposure to polycyclic aromatic hydrocarbons (PAHs) and methylation levels of CHDs-candidate genes on the......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (9)
Objective To review prenatal diagnosis and outcome of alpha thalassaemia major through universal antenatal screening. Method This was a retrospective ......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (7)
Objective To investigate the use of chromosomal microarray (CMA) and Exome sequencing (ES) in fetuses with congenital heart disease (CHD). Methods The......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (7)
Objective The diagnostic yield for congenital heart defects (CHD) with routine genetic testing is around 10%-20% when considering pathogenic CNVs or a......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (12)
Key points What's already known about this topic? The earliest reported prenatal ultrasound findings of facial features in Cornelia de Lange syndrome ......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (9)
Objective: Preimplantation Genetic Testing - Aneuploidy (PGT-A) for embryo selection has undergone significant advancements in the last 2 decades and ......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (13)
Objective The purpose of this retrospective study was to report our cases of fetal ectopia cordis (EC) and to evaluate the utility of fetal cardiovasc......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (8)
Objective This study aimed to investigate the prevalence of anxiety symptoms and the associations between social support and anxiety symptoms among Ch......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (13)
Objective To examine the diagnostic yield of exome sequencing (ES) in singleton pregnancies with isolated fetal clubfoot. Methods Clinical data from s......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (7)
Objective We investigated a custom congenital heart disease (CHD) geneset to assess the diagnostic value of whole-exome sequencing (WES) in karyotype-......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (8)
Objective To compare the outcomes of monochorionic triamniotic (MCTA) triplets managed expectantly with those reduced to twins. Method This was a retr......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (4)
Objective: To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis. Methods: Th......
期刊： PRENATAL DIAGNOSIS, 2022; 42 (11)
Objective To evaluate the performance of susceptibility-weighted imaging (SWI) in visualizing normal and abnormal fetal vertebrae in vivo and in utero......
