A5039774400- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Reproductive Biology and Fertility
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Assisted Reproductive Technology and Twin Pregnancy
- Parvovirus B19 Infection Studies
- Congenital Anomalies and Fetal Surgery
- Epigenetics and DNA Methylation
- Sperm and Testicular Function
- Renal and related cancers
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Skin and Cellular Biology Research
- CRISPR and Genetic Engineering
- Reproductive System and Pregnancy
- Birth, Development, and Health
- Pluripotent Stem Cells Research
- Ovarian function and disorders
- Chromosomal and Genetic Variations
- Preterm Birth and Chorioamnionitis
- Cancer-related molecular mechanisms research
- AI in cancer detection
- Pregnancy and preeclampsia studies
Shanghai Jiao Tong University
2016-2025
Obstetrics and Gynecology Hospital of Fudan University
2021-2025
International Peace Maternity & Child Health Hospital
2016-2025
Shanghai University of Engineering Science
2023-2024
Fudan University
2021-2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2022-2023
Case Western Reserve University
2023
University School
2023
University Hospitals of Cleveland
2023
Massachusetts General Hospital
2023
Background: Mutations in low-density lipoprotein (LDL) receptor ( LDLR ) are one of the main causes familial hypercholesterolemia, which induces atherosclerosis and has a high lifetime risk cardiovascular disease. The clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system is an effective tool for gene editing to correct mutations thus ameliorate Methods: goal this work was determine whether vivo somatic cell through CRISPR/Cas9 delivered by adeno-associated virus...
ABSTRACT Objective To report the feasibility of fetal chromosomal deletion/duplication detection using a novel bioinformatic method low coverage whole genome sequencing maternal plasma. Method A practical F etal C opy‐number nalysis through Maternal P lasma S equencing (FCAPS), integrated with GC‐bias correction, binary segmentation algorithm and dynamic threshold strategy, was developed to detect deletions/duplications >10 Mb by (about 0.08‐fold). The sensitivity/specificity resultant...
Abstract Background Early pregnancy loss (EPL) is a frustrating clinical problem, whose mechanisms are not completely understood. DNA methylation, which includes maintenance methylation and de novo directed by methyltransferases (DNMTs), important for embryo development. Abnormal function of these DNMTs may have serious consequences embryonic Methods To evaluate the possible involvement in human EPL, expression DNMT proteins global were assessed villous or decidua from EPL patients. The...
ABSTRACT Objective The objective of this study is to assess the performance noninvasive prenatal testing for trisomies 21 and 18 on basis massively parallel sequencing cell‐free DNA from maternal plasma in twin pregnancies. Method A double‐blind was performed over 12 months. total 189 pregnant women carrying twins were recruited seven hospitals. Maternal detect 18. fetal karyotype used as gold standard estimate sensitivity specificity sequencing‐based test. Results There nine cases trisomy...
Chromosomal rearrangements have profound consequences in diverse human genetic diseases. Currently, the detection of balanced chromosomal (BCRs) mainly relies on routine cytogenetic G-banded karyotyping. However, cryptic BCRs are hard to detect by karyotyping, and risk miscarriage or delivering abnormal offspring with congenital malformations carrier couples is significantly increased. In present study, we aimed investigate potential single-molecule optical genome mapping (OGM) unravelling...
Primary ovarian insufficiency (POI) leads to infertility and premature menopause in young women. The genetic etiology of this disorder remains unknown most patients. Using whole exome sequencing a large Chinese POI pedigree, we identified heterozygous 5 bp deletion inducing frameshift BNC1, which is predicted result non-sense-mediated decay or truncated BNC1 protein. Sanger another missense mutation 4 82 idiopathic patients with POI, the was absent 332 healthy controls. Transfection...
Cryotop is a carrier that has been used successfully in the cryopreservation of human spermatozoa. Here, we explored novel method to vitrify spermatozoa without cryoprotective agents (CPAs) using Cryotop. Spermatozoa from 21 Normozoospermic patients were collected and vitrified CPAs or with sucrose small volume The sperm recovery rate, motility, viability, chromatin damage DNA fragmentation assessed. No significant difference was observed rate motility between cryopreserved sucrose....
Abstract Current non-invasive prenatal screening (NIPS) analyzes circulating fetal cell-free DNA (cfDNA) in maternal peripheral blood for selected aneuploidies or microdeletion/duplication syndromes. Many genetic disorders are refractory to NIPS largely because the material constitutes most of total cfDNA present plasma, which hinders detection fetus-specific variants. Here, we developed an innovative sequencing method, termed co ordinative a llele-aware t arget e nrichment seq uencing...
Objective: To analyze the prenatal diagnostic results in families with de novo monogenic diseases and mutation origins affected children from reproductive history of recurrent mutations (DNMs). Methods: This study was a cross-sectional study. A total 41 cases adverse pregnancy who underwent genetic counseling diagnosis January 2021 to December 2023 at Obstetrics Gynecology Hospital Fudan University were included. Prenatal other clinical data reviewed, peripheral blood parents, or tissue...
To investigate whether the noninvasive preimplantation genetic testing (niPGT) complement conventional (PGT) in embryos for aneuploidy. 40 spent culture medium (SCM) samples from routine embryo were collected, and half of each SCM (10 µL) sample was used whole genome amplification, while other stored at -80 °C 3–6 months. Thirty-six out fresh successfully amplified sequenced. paired frozen-thawed showed 100% concordance with freshly samples. Then, trophectoderm (TE) 149 blastocysts 51...
Abstract STUDY QUESTION Can whole genome sequencing (WGS) offer a relatively cost-effective approach for embryonic genome-wide haplotyping and preimplantation genetic testing (PGT) monogenic disorders (PGT-M), aneuploidy (PGT-A) structural rearrangements (PGT-SR)? SUMMARY ANSWER Reliable haplotyping, PGT-M, PGT-A PGT-SR could be performed by WGS with 10× depth of parental 4× data. WHAT IS KNOWN ALREADY Reduced representation next-generation haplarithmisis-based solution has been verified as...
Reliable chromosome detection in metaphase cell (MC) images can greatly alleviate the workload of cytogeneticists for karyotype analysis and diagnosis chromosomal disorders. However, it is still an extremely challenging task due to complicated characteristics chromosomes, e.g., dense distributions, arbitrary orientations, various morphologies. In this article, we propose a novel rotated-anchor-based framework, named DeepCHM, fast accurate MC images. Our framework has three main innovations:...
In vitro maturation (IVM) of oocyte is an effective procedure for avoiding ovarian hyperstimulation syndrome in patients with polycystic ovaries (PCOS) during fertilization (IVF). To investigate the influences IVM on epigenetic reprogramming and to search possible reasons lower rates cleavage oocytes, we examined expression two enzymes controlling histone acetylation, acetyltransferase GCN5 (GCN5) deacetylase 1 (HDAC1), as well their common target, acetyl‐histone H3 (Ac‐H3), mouse metaphase...
Abstract Background The counselling of poor ovarian responders about the probability pregnancy remains a puzzle for gynaecologists. aim this study was to optimise management by investigating role oocyte-derived factor bone morphogenetic protein-15 (BMP-15) combined with chronological age in prediction outcome in-vitro fertilisation-embryo transfer (IVF-ET) responders. Methods A retrospective conducted university hospital. total 207 who reached ovum pick-up stage undergoing...
The incidence of gastric cancer (GC) is extremely high in East Asia. GC also one the most common and lethal forms from a global perspective. However, to date, we have not been able determine or several genes as biomarkers diagnosis unable identify which are important therapy GC. In this study, analyzed all genome-wide expression profiling arrays uploaded onto Gene Expression Omnibus (GEO) database filtrate differentially expressed (DEGs) between normal stomach tissues tissues. GSE13911,...
Abstract Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited renal diseases caused by mutations in PKD1 and PKD2 . We performed mutational analyses PKD genes 49 unrelated patients using direct PCR-sequencing multiplex ligation-dependent probe amplification (MLPA) for RT-PCR analysis was also a family with novel splicing mutation. Disease-causing were identified 44 (89.8%) patients: 42 (95.5%) showed 2 (4.5%) Ten nonsense, 17 frameshift, 4 in-frame...
Objective Chromosomal abnormalities such as aneuploidy have been shown to be responsible for causing spontaneous abortion. Genetic evaluation of abortions is currently underperformed. Screening in the products conception can help determine etiology. We designed a high-throughput ligation-dependent probe amplification (HLPA) assay examine 24 chromosomes miscarriage tissues and aimed validate performance this technique. Methods carried out screening 98 fetal tissue samples collected from...
Abstract Background High-cost, time-consuming and complex processes of several current approaches limit the use noninvasive prenatal diagnosis (NIPD) for monogenic disorders in clinical application. Thus, a more cost-effective easily implementable approach is required. Methods We established low-cost convenient test to noninvasively deduce fetal genotypes mutation single nucleotide polymorphisms (SNPs) loci by means targeted amplification combined with deep sequencing maternal genomic plasma...