[Prenatal diagnosis and genetic analysis of a fetus with mosaicism 3q26-qter duplication and 10q26-qter deletion].

[Genetic analysis of two fetuses with supernumerary small marker chromosomes derived from complex chromosomal rearrangements].

[Prenatal cyto- and molecular genetic analysis of low-proportion fetal chromosome mosaicisms for pregnant women with abnormal NIPT results].

Prenatal Diagnosis of a Low-Level Mosaic Small Supernumerary Marker Chromosome (sSMC): Early Postnatal Clinical Follow-Up

Small supernumerary marker chromosomes (sSMCs) are rare chromosomal abnormalities with diverse outcomes and variable effects that can be detected prenatally. The clinical significance of low-level mosaic sSMCs is often uncertain, and postnatal follow-up is essential to assess phenotypic outcomes. A fetus in whom a low-...

Combined Application Value of Chromosome Karyotype Analysis and Chromosomal Microarray Analysis (CMA) in Prenatal Diagnosis

Objective: Chromosome karyotype analysis is the gold standard for prenatal diagnosis yet carries multiple limitations. Chromosomal microarray analysis (CMA) can overcome these drawbacks to a certain extent. This study aims to evaluate the clinical application value of combined chromosome karyotype analysis and CMA in t...

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

There is insufficient evidence to classify the FGF13 c.-32C>G as a pathogenic variant in clinical practice, and its presence should not be considered an indication for pregnancy termination due to major birth defects.

Prenatal genetic findings and pregnancy outcomes in fetuses with congenital heart disease: a decade-long retrospective analysis at a tertiary hospital

Ultrasound findings suggest that genetic risk varies by CHD type, complexity, and extracardiac anomalies, which may inform more precise prenatal genetic risk stratification.