Objectives To determine the characteristics of fetal ventricular septal defects (VSDs) that will
be less likely to close prenatally. Methods In this 4‐year retrospective cohort study, 148 …

OBJECTIVE: To present prenatal diagnosis of chromosome 1p32-p31 deletion syndrome
with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal …

Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both
microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular …

(1) Background: The objective of this study was to investigate the diagnostic value of
chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different …

Whole genome sequencing (WGS) is a powerful tool for postnatal genetic diagnosis, but
relevant clinical studies in the field of prenatal diagnosis are limited. The present study …

Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with
developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD), and …

Objectives To evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for
monogenic disorders in fetuses with structural malformations and normal results on …

The aim of this study was to examine if isolated fetal ventricular septal defect (VSD) is
associated with trisomy 21. One hundred twenty six cases with prenatal VSD diagnosed by a …

Objective The objective of this study was to determine the association of copy number
variants (CNV) with perinatal outcomes among fetuses with sonographic abnormalities …

Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal
genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis …