A5038815150- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Hemoglobinopathies and Related Disorders
- Fetal and Pediatric Neurological Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- Congenital heart defects research
- Genetic Syndromes and Imprinting
- Parvovirus B19 Infection Studies
- Congenital Anomalies and Fetal Surgery
- Cancer-related molecular mechanisms research
- Congenital Heart Disease Studies
- Aquaculture Nutrition and Growth
- Genomics and Rare Diseases
- Pregnancy and preeclampsia studies
- Renal and related cancers
- Chromosomal and Genetic Variations
- Genetics and Neurodevelopmental Disorders
- Tumors and Oncological Cases
- Tracheal and airway disorders
- MicroRNA in disease regulation
- Reproductive System and Pregnancy
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Erythrocyte Function and Pathophysiology
- Muscle Physiology and Disorders
Fujian Medical University
2016-2025
Fuzhou Maternity and Child Health Care Hospital
2024-2025
Ningbo University
2024-2025
Shanghai Liangyou (China)
2024
Fujian University of Traditional Chinese Medicine
2024
Central South University
2024
Hunan Normal University
2024
Xiangya Hospital Central South University
2024
Hunan Provincial People's Hospital
2024
Wuhan University
2023
Thalassemia and hemoglobinopathy are two common inherited disorders, which highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia Southeastern In this study, we present a large-scale genetic detection molecular characterization Fujian province, A total 189414 subjects screened for were recruited, hemoglobin components levels investigated. Furthermore, suspected was identified, rare forms thalassemias detected. Among screened, overall prevalence...
Abstract Early diagnosis of congenital heart disease (CHD) can improve the prognosis neonates with CHD. We retrospectively evaluated value prenatal CHD by comparing pregnancy outcomes. Prenatal was established echocardiographic evaluation fetal heart. Amniotic fluid and/or cord blood genetic examination, pathological anatomy, casting specimen, multidisciplinary-joint consultation (MDJC) were performed. A total 1492 fetuses diagnosed echocardiography from 67834 pregnant women. There 445, 236,...
Abstract Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal chromosomal aneuploidies. However, the ability of NIPT-Plus detect copy number variation (CNV) debatable. Accordingly, we assessed efficiency clinically significant CNV. We performed a prospective analysis 31,260 singleton pregnancies, included from June 2017 December 2020. Cell-free DNA was directly sequenced using semiconductor sequencing platform women with high-risk CNV results. Fetal karyotyping and...
In Guangxi, Hainan, and Fujian Province in southern China, β-thalassemia is a frequent monogenic hereditary disorder that primarily defined by hemolytic anemia brought on inefficient erythropoiesis. It has been found ineffective erythropoiesis closely associated with high accumulation of Reactive oxygen species, product oxidative stress, erythroid cells. During recent years, ferroptosis an iron-dependent lipid peroxidation involves abnormalities iron metabolism as well reactive species...
Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on biopsy motor retardation. In this study, we recruited eleven families with early-onset in China, aimed to clarify the underlying genetic etiology. Essential clinical tests, biomedical examination, electromyography biopsy, were applied evaluate patient phenotypes....
DMD genetic variants cause a spectrum of phenotypes, from severe progressive proximal muscle weakness and degeneration leading to wheelchair dependence death cardiac and/or respiratory failure very mild muscular phenotypes; rarely, cases are completely asymptomatic. Few have been reported in males carrying deletions who Family clinical information was collected the patients. A single nucleotide polymorphism array (SNP-array) used detect abnormalities prenatal diagnosis, multiplex...
Abstract Background Submicroscopic chromosomal imbalance is associated with an increased nuchal translucency (NT). Most previous research has recommended the use of microarray analysis (CMA) for prenatal diagnosis if NT ≥ 3.5 mm. However, there no current global consensus on cutoff value CMA. In this study, we aimed to discuss fetuses smaller which was between karyotype (NT 2.5 mm in China) and CMA mm) whether should be excluded from test. Methods Singleton pregnant women ( N = 192) who had...
Prenatal invasive genetic testing is commonly recommended to pregnancies of early-onset FGR or combined with a structural defect. Our study aimed explore the findings for without malformations according cytogenetic karyotyping and single nucleotide polymorphism array (SNP array) technology over 10-year period.A total 488 diagnosed malformation were retrospectively reviewed. Cytogenetic was performed on all subjects, SNP available from 272 them. Based gestational age at onset, cohort...
The accurate prenatal diagnosis of skeletal anomaly (SKA) using imaging alone remains challenging. We aimed to investigate the efficacy whole-exome sequencing (WES) in molecular genetic system abnormalities, with or without additional ultrasound anomalies. All fetuses SKA were subjected sequential tests, and after excluding fetal chromosomal abnormalities clinically significant copy number variations (CNVs) consistent observed phenotype, affected further WES. clinical features collected,...
Aberrant right subclavian artery (ARSA) is becoming increasingly common in fetuses. However, there are relatively fewer studies regarding the genetic etiology of ARSA. We performed a analysis fetuses with ARSA and followed up on pregnancy outcomes to evaluate prognosis fetuses, providing information for prenatal eugenic consultations.This retrospective study included 112 pregnant females whose were diagnosed from December 2016 February 2021. Fetal karyotype single-nucleotide polymorphism...
Abstract Background Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of fetuses with is still unknown. This study aimed to evaluate genetic and clinical value chromosomal abnormalities copy number variations (CNVs) in markers. Methods Among 1131 fetuses, 729 had single marker, 322 two markers, 80 three or more All underwent conventional karyotyping, followed by nucleotide polymorphism (SNP) array analysis. Results 46 abnormalities. In addition...
To investigate the gene prevalence and spectrum of alpha- beta-thalassemia in Fujian province.A total 11 234 neonatal cord blood samples were collected for a study beta-thalassemia. All subjects included this registered 9 cities province. A complete count high performance liquid chromatography (HPLC) performed all samples, with microcytosis (MCV≤ 79 f1 MCH≤ 27 pg) or HPLC positive cases further studied by DNA analysis. determined using gap-PCR reverse dot blot (RDB) assays. Unknown analyzed...
Abstract To evaluate the correlation between chromosomal abnormalities and fetal aberrant right subclavian artery ( ARSA) with or without additional ultrasound anomalies (UAs). A total of 340 fetuses diagnosed ARSA by December, 2015, July, 2021, were included. All cases subdivided into three groups: (A) 121 (35.6%) isolated ARSA, (B) 91 (26.8%) soft markers, (C) 128 (37.6%) complicated other UAs. Invasive testing was performed via amniotic fluid cord blood karyotyping microarray analysis...
Multicystic dysplastic kidney (MCDK) is one of the most common fetal malformations, but its etiology remains unclear. Identification molecular could provide a basis for prenatal diagnosis, consultation, and prognosis evaluation MCDK fetuses. We used chromosome microarray analysis (CMA) whole-exome sequencing (WES) to conduct genetic tests on fetuses explore their etiology. A total 108 with or without other extrarenal abnormalities were selected. Karyotype showed an abnormal karyotype in 4...
Introduction Genetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have clear association with genetic defects. In this study, we recruited seven families from China neurodevelopmental abnormalities in was predominant manifestation, aiming to elucidate the underlying causes make precise diagnosis for cases. Methods Whole-exome sequencing (WES) combined Sanger used identify causative variants associated...
Abstract This study aimed to evaluate the etiology and pregnancy outcomes of fetuses underwent invasive prenatal diagnosis for fetal growth restriction (FGR) accompanied by structural malformations. Data from 130 pregnancies referred FGR malformations were obtained between July 2011 2023. Traditional karyotyping was conducted all subjects. A total 37 (28.5%) cases chromosomal abnormalities detected karyotyping, including 30 numerical anomalies seven unbalanced anomalies. Trisomy 18 most...
Abstract The mechanism of spinal cord injury (SCI) is highly complex, and an increasing number studies have indicated the involvement pyroptosis in physiological pathological processes secondary SCI. However, there limited bioinformatics research on pyroptosis-related genes (PRGs) This study aims to identify validate differentially expressed PRGs GEO database, perform analysis, construct regulatory networks explore potential mechanisms therapeutic targets for We obtained high-throughput...
Dietary docosahexaenoic acid (DHA) is crucial for the optimal (Opt) growth of bivalves, but precise dietary DHA requirement remains undetermined in bivalves. Our study identifies razor clam Sinonovacula constricta and demonstrates its effects on fatty profiles gene expression related to inflammation detoxification. Microencapsulated feeds with different levels (DHA1–6 groups: 1.68, 4.85, 9.49, 12.6, 15.59, 16.95 mg g −1 dry matter) were prepared using spray drying. Razor clams (initial wet...