A5046291101- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Renal and related cancers
- Platelet Disorders and Treatments
- Congenital Anomalies and Fetal Surgery
- Cleft Lip and Palate Research
- Congenital Diaphragmatic Hernia Studies
- Parvovirus B19 Infection Studies
- Congenital Heart Disease Studies
- Tumors and Oncological Cases
- Craniofacial Disorders and Treatments
- Pediatric Urology and Nephrology Studies
- Chronic Lymphocytic Leukemia Research
- Blood groups and transfusion
- Erythrocyte Function and Pathophysiology
- Single-cell and spatial transcriptomics
- Williams Syndrome Research
- Lysosomal Storage Disorders Research
- Fetal and Pediatric Neurological Disorders
- Lymphoma Diagnosis and Treatment
- Intestinal Malrotation and Obstruction Disorders
- Metabolism and Genetic Disorders
- Congenital limb and hand anomalies
- Lung Cancer Treatments and Mutations
First Affiliated Hospital of Nanchang University
2009-2025
Nanchang University
2009-2025
Guangzhou Medical University
2022-2024
Guangzhou Women and Children Medical Center
2022-2024
South China University of Technology
2022
Southern Medical University
2022
Second Affiliated Hospital of Nanchang University
2016
Huazhong University of Science and Technology
1999-2008
Background: Patients with lower-risk myelodysplastic syndromes (MDS) may experience anemia and a high transfusion burden, alongside risk of progression to acute myeloid leukemia. Luspatercept, recombinant fusion protein that acts as an erythroid maturation agent, was FDA/EMA-approved in 2020 based on the phase III MEDALIST trial. There remains unmet need for treatment Asian patients whom red blood cell (RBC) is standard care, rates/severity serum erythropoietin levels are often higher versus...
Background: Microcephaly is common in patients with neuropsychiatric problems, and it usually closely related to genetic causes. However, studies on chromosomal abnormalities single-gene disorders associated fetal microcephaly are limited. Objective: We investigated the cytogenetic monogenic risks of evaluated their pregnancy outcomes. Methods: performed a clinical evaluation, high-resolution microarray analysis (CMA), trio exome sequencing (ES) 224 fetuses prenatal followed outcome...
There are a few literature reports of prenatal ultrasound manifestations Williams-Beuren syndrome. We aimed to explore the diagnosis syndrome by and chromosomal microarray analysis describe performance this syndrome.In retrospective study, we reported eight cases diagnosed at our diagnostic center from 2016 2021. systematically reviewed clinical data these cases, including indications for invasive testing, sonographic findings, QF-PCR results, pregnancy outcomes.In common features were...
Objective To evaluate the utility of chromosomal microarray analysis (CMA) in fetuses with isolated ventricular septal defect (VSD) and to explore favorable factors for predicting spontaneous closure defects. Methods The study included 436 singleton pregnancies seen at a referral prenatal diagnosis center, between January 2016 May 2020, which 168 VSD were diagnosed setting. was classified as an whether it had ultrasound soft markers or not. All patients underwent testing employing...
Objective: In the study, we investigated genetic etiology of ventricular septal defect (VSD) and comprehensively evaluated diagnosis rate prenatal chromosomal microarray analysis (CMA) exome sequencing (ES) for VSD to provide evidence counseling. Methods: We carried out on 468 fetuses with 51 fetuses. Results: our cohort, 68 (14.5%) received a diagnosis, including 61 (13.03%, 61/468) cases abnormalities seven (13.7%, 7/51) gene sequence variants. The detection total pathogenic likely...
Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of prenatal diagnosis talipes equinovarus (TE) compared to conventional karyotyping. We aimed explore molecular etiology fetal TE and examine CMA, which provides more information for clinical screening genetic counseling TE. Methods: In this retrospective study, pregnancies diagnosed with were enrolled data all cases retrieved from our medical record database, including demographic pregnancies,...
(1) Objective: To investigate the prenatal diagnosis and genetic counseling for 16p11.2 microdeletion syndrome to evaluate its pregnancy outcome. (2) Methods: This study included 4968 pregnant women who selected invasive diagnoses from 1 January 2017 August 2022. These 4698 pregnancies underwent chromosomal microarray analysis (CMA), data on 81 fetuses diagnosed with based ultrasound features test results were recorded, their outcome was evaluated. (3) Results: 1.63% of (81/4968) syndrome....
Objective: This retrospective study aims to evaluate the utility of exome sequencing (ES) in identifying genetic causes congenital orofacial clefts (OFCs) fetuses with or without other structural abnormalities, and further explore OFCs causes. Methods: The enrolled 107 singleton pregnancies diagnosed fetal between January 2016 May 2022, categorized them into two groups: isolated cleft lip and/or palate (CL/CP) syndromic CL/CP. Cases positive karyotyping chromosomal microarray analysis...
Background: There are few studies on the burden of chromosomal abnormalities and single gene disorders in fetal hemivertebra (HV). We aim to investigate cytogenetic monogenic risk evaluate prenatal outcomes HV. Method: This study included fetuses diagnosed with HV divided into two groups: isolated non-isolated Data other sonographic structural anomalies, sub-chromosomal abnormalities, variations detected by WES, recorded reviewed. Results: Among 109 cases, forty-seven (43.1%) cases were...
The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males mosaic PCDH19. This study reported a novel, de novo, nonsense (NM_001184880: c.840C > A, p. Tyr280*) Chinese male in early middle childhood by trio whole-exome sequence (Trio-WES) confirmed Sanger sequence. proportion (c.840C was 27.9% in, buccal...
<title>Abstract</title> <bold>Backgroud:</bold> A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/CP) and association between various types CL/CP copy number variations (CNVs), as well their impact on birth outcomes. <bold>Methods:</bold>In this retrospective study, a cohort pregnancies diagnosed with enrolled comprehensive clinical data for all cases were extracted from our medical record database, including demographic about...
Abstract Backgroud A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and association between various types CL/P copy number variations (CNVs), as well their impact on birth outcomes. Methods In this retrospective study January 2016 July 2022, a cohort pregnancies diagnosed with enrolled comprehensive clinical data for all cases were extracted from our medical record database, including demographic about pregnancies, ultrasound...
ObjectiveThis single-center retrospective study aimed to investigate the genetic factors contributing neonatal and pediatric pulmonary hypertension in a Chinese population using trio whole-exome sequencing (trio-WES).MethodThis analysis reviewed clinical profiles of children under 18 years age diagnosed with between March 2017 2022. The diagnosis was confirmed through echocardiography catheterization. Trio-WES performed on patients their parents after obtaining informed consent.ResultsA...
Abstract Background The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes single cells in CH. In this study, single-cell sequencing (scRNA-seq) was used to investigate characteristics cell subsets lesion tissues CH patients. Methods Lymphoid tissue collected from patients control donors for scRNA-seq analysis. Differentially expressed gene enrichment major subpopulations as well cell-cell communication were...
17q12 copy number variants (CNVs) have variable presentations and incomplete penetrance, challenging prenatal counseling management. This study aims to investigate the intrauterine phenotype.