Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approach.

Purpose: This study evaluated the effectiveness and accuracy of medium-coverage whole genome sequencing (CMA-seq) for detecting triploidy in early pregnancy miscarriage tissues, comparing its performance with that of chromosomal microarray analysis (CMA) and low-coverage whole genome sequencing (CNV-seq) combined with short tandem repeat (STR) testing.

Methods: In the initial phase, the CMA-seq analytical framework was validated using four triploid miscarriage samples pre-characterized by standard methods. Three complementary algorithms were applied in parallel: X/Y chromosome dosage ratio analysis to assess read-depth-derived chromosome ratios, SNP-based variant allele frequency (VAF) modeling to differentiate triploid from diploid profiles, and CNV segmentation pattern recognition to identify fractional copy number states relative to a diploid baseline.

Correction: A non-invasive method for screening mitochondrial diabetes.

[This corrects the article DOI: 10.3389/fgene.2025.

A non-invasive method for screening mitochondrial diabetes.

Background: Mitochondrial diabetes mellitus (MDM) is a special type of diabetes resulting from functional defects in mitochondria. Its incidence rate is low, and it can often be misdiagnosed as either type 1 or type 2 diabetes in clinical settings. Due to limited clinical experience in diagnosing and treating MDM, the rate of missed diagnosis is high.

A Comparative Study of Medium-Coverage Genome Sequencing and SNP Array Technology in Identifying Chromosomal Abnormalities to Advance Prenatal and Postnatal Diagnosis.

This study compared the performance of 5-fold genome sequencing (GS) with single nucleotide polymorphism (SNP) array technology in detecting chromosomal abnormalities, particularly in the context of prenatal and postnatal diagnostics. A total of 42 samples, previously analyzed by SNP array, were re-examined using 5-fold GS to evaluate the detection of clinically significant copy number variations (CNVs), mosaicism, and absence of heterozygosity (AOH). The results revealed a 100% concordance between the two methods for the identification of clinically relevant CNVs, with both technologies detecting similar CNV size ranges.

Corrigendum: Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

[This corrects the article DOI: 10.3389/fgene.2025.

Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 Pregnancies.

Objective: To evaluate the feasibility and effectiveness of medium-coverage whole genome sequencing (CMA-seq) for prenatal diagnosis of foetal structural anomalies, and to compare its performance with conventional chromosomal microarray analysis (CMA).

Design: A prospective clinical study combined with a systematic meta-analysis.

Setting: A tertiary maternal and child health hospital in Chongqing, China.

Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

[This corrects the article DOI: 10.3389/fgene.2025.

Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases.

Purpose: This study evaluates the efficacy of rapid clinical exome sequencing (CES) and mitochondrial DNA (mtDNA) sequencing for diagnosing genetic disorders in critically ill pediatric patients.

Methods: A multi-centre investigation was conducted, enrolling critically ill pediatric patients suspected of having genetic disorders from March 2019 to December 2020. Peripheral blood samples from patients and their parents were analyzed using CES (proband-parent) and mtDNA sequencing (proband-mother) based on Next-Generation Sequencing (NGS) technology.

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.

Objective: Epilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) has emerged as a robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based sequencing techniques.

A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.

Pathogenic variants of mitochondrial DNA (mtDNA) are associated with a large number of heterogeneous diseases involving multiple systems with which patients may present with a wide range of clinical phenotypes. Clinical data of the proband and his family members were gathered in a retrospective study. Whole-exome sequencing and full-length sequencing of the mitochondrial genome that was performed on peripheral blood, urine, and oral mucosa cells were applied for genetic analysis.

Customizing carrier screening in the Chinese population: Insights from a 334-gene panel.

Objective: This study aimed to evaluate the yield and applicability of expanded carrier screening and propose carrier rate screening thresholds suitable for the Chinese population by comparing the current screening panel with the American College of Medical Genetics and Genomics recommended panel of 113 genes.

Methods: Using targeted next-generation sequencing, a customized panel with 334 genes was performed on 2168 individuals without clinical phenotypes for expanded carrier screening purpose. Variant interpretation followed the American College of Medical Genetics and Genomics guidelines.

Identification of a novel variant in a family with developmental and epileptic encephalopathies: a case report and literature review.

Developmental and epileptic encephalopathies (DEEs) are a group of heterogeneous neurodevelopmental diseases characterized mainly by developmental delay/intellectual disability and early-onset epilepsy. Researchers have identified variations in the gene (OMIM* 610044) as the cause of DEE type 57 (MIM# 617771). We report in this study a 46-year-old woman who presented with early-onset epilepsy, intellectual disability, hypertrichosis, coarse facial features, and short stature.

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Background: Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new cases of upd(6)mat and reviewed the literature of previous cases.

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.

Background: Progressive external ophthalmoplegia (PEO) is a common subtype of mitochondrial encephalomyopathy.

Objective: The study aimed to investigate the relationship between mitochondrial DNA (mtDNA) abnormalities, muscle pathology, and clinical manifestations in Chinese patients with single large-scale mtDNA deletion presenting with PEO.

Methods: This is a retrospective single-center study.

Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

Background: Zhu-Tokita-Takenouchi-Kim (ZTTK, OMIM 617140) syndrome is a severe multisystem developmental disorder characterized by intellectual disability, developmental delay, cortical malformations, epilepsy, visual problems, musculoskeletal abnormalities, and congenital malformations. ZTTK syndrome is caused by a heterozygous pathogenic variant of the SON gene (NM_138927) at chromosome 21q22.1.

Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing.

Chromosomal abnormalities are a common cause of spontaneous abortions, but conventional detection methods (karyotype, FISH, and chromosomal microarray [CMA]) have limitations, and many cryptic balanced chromosomal rearrangements are difficult to detect. We describe a couple who experienced a missed abortion, studied by CMA. CMA of the abortion tissue detected a 1.

Case report: A novel mutation in 1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge.

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant malformation caused by mutations involving the 1 gene. Patients with TRPS exhibit distinctive craniofacial and skeletal abnormalities. This report presents three intra-familial cases with 1 gene mutations that showed the characteristic features of TRPS.

Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos.

Tubulin beta 8 class VIII (TUBB8) is a β-tubulin isotype that is specifically expressed in human oocytes and early embryos. It has been identified as a disease-causing gene in primary female infertility by affecting oocyte maturation arrest. This study investigated the genetic cause of female infertility in five patients from four families.

Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China.

Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded carrier gene panel suitable in China. Medical exome sequencing (MES), including 4,158 disease-causing genes, was offered to couples at two reproductive centers.

Discovery of Novel Variants on the Gene: A Case Series of CHARGE Syndrome.

CHARGE syndrome (CS) is a single-gene genetic disorder with multiple organ malformations caused by a variant of the chromodomain helicase DNA-binding protein 7 () gene on chromosome 8q12.1. In this study, we aimed to investigate new variants that have emerged in these cases compared with typical CS and the relationship between the genes and phenotypes.

Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the Gene.

Interstitial lung disease (ILD) is a heterogeneous group of pulmonary disorders involving the lung interstitium and distal airways, also known as diffuse lung disease. The genetic defects resulting in alveolar surfactant protein dysfunction are a rare cause of ILD in pediatric patients. We report two unrelated pediatric patients with shortness of breath, dyspnea and hypoxemia, and the chest CT findings including patchy ground-glass opacity in both lung fields, suggestive of diffuse ILD.

Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA (MT-TG) Variant.

Background: Mitochondrial diseases are clinically heterogeneous, can occur at any age, and can manifest with a wide range of clinical symptoms. They can involve any organ or tissue, characteristically involve multiple systems, typically affecting organs that are highly dependent on aerobic metabolism, and making a definitive molecular diagnosis of a mitochondrial disorder is challenging.

Methods: Clinical data of the proband and his family members were gathered in a retrospective study.

Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.

Niemann-Pick disease is a relatively common lysosomal storage disease. Cholestatic liver disease is a typical clinical phenotype of Niemann-Pick disease in infancy. The diagnosis is traditionally based on Niemann-Pick cells in bone marrow smears or liver biopsies.