A5101473822- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Assisted Reproductive Technology and Twin Pregnancy
- Congenital Anomalies and Fetal Surgery
- Genetic Syndromes and Imprinting
- Chromosomal and Genetic Variations
- Galectins and Cancer Biology
- Reproductive Biology and Fertility
- Endometriosis Research and Treatment
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Reproductive System and Pregnancy
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Parvovirus B19 Infection Studies
- Sperm and Testicular Function
- Aquaculture disease management and microbiota
- Hearing, Cochlea, Tinnitus, Genetics
- Congenital limb and hand anomalies
- High Entropy Alloys Studies
- Tumors and Oncological Cases
- Traumatic Brain Injury and Neurovascular Disturbances
- Signaling Pathways in Disease
- Cystic Fibrosis Research Advances
- Intracranial Aneurysms: Treatment and Complications
- Organ and Tissue Transplantation Research
Obstetrics and Gynecology Hospital of Fudan University
2009-2024
Fudan University
2007-2024
University of Kansas Medical Center
2023
New York University Press
2022
ShangHai JiAi Genetics & IVF Institute
2011-2022
Cambridge University Press
2022
Shanghai Institute of Planned Parenthood Research
2021
Hospital Kuala Lumpur
1992
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...
Do specific factors affect the segregation patterns of a quadrivalent structure and can genome stability during meiosis? Meiotic be affected by carrier's gender age, location breakpoints chromosome type, increase instability meiosis. Carriers reciprocal translocations have an increased genetic reproductive risk owing to complex structure. However, results previous studies on that seem contradictory, effect meiosis is unknown. We designed retrospective study analyze 24 chromosomes from...
Expanded carrier screening (ECS) has emerged as an effective approach to identify at-risk couples (ARCs)-before they initiate attempts at reproduction-who possess a high probability of having child affected by severe recessive diseases. The objective this study was evaluate the clinical utility ECS in Chinese patients seeking help assisted reproductive technology (ART).An test, which covers 201 genes implicated 135 (autosomal or X-linked) diseases, routinely offered all ART single genetics...
It is well established that embryonic chromosomal abnormalities (both in the number of chromosomes and structure) account for 50% early pregnancy losses. However, little known regarding potential differences incidence distribution between patients with sporadic abortion (SA) recurrent loss (RPL), let alone role submicroscopic copy-number variations (CNVs) these cases. The aim present study was to systematically evaluate CNVs etiology RPL compared SA. Over a 3-year period, 1556 fresh products...
Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers. However, it remains a difficulty distinguish in between and structurally normal chromosomes efficiently.For this purpose, genome wide preimplantation haplotyping (PGH) analysis was utilized based on single nucleotide polymorphism (SNP) microarray. SNPs that are heterozygous the carrier and, homozygous carrier's partner...
Background Preimplantation genetic testing (PGT) has already been applied in patients known to carry chromosomal structural variants improve the clinical outcome of assisted reproduction. However, conventional molecular techniques are not capable reliably distinguishing embryos that balanced inversion from those with a normal karyotype. We aim evaluate use long-read sequencing combination haplotype linkage analysis address this challenge. Methods Long-read on Oxford Nanopore platform was...
Galectin-3 (gal-3) is a β-galactoside-binding protein which can be detected in endometrium. The study was designed to investigate synergism of gal-3 and integrinβ3 endometrial cell proliferation adhesion an vitro model receptivity. RL95-2 line employed as for receptive Cells transfected with siRNA or treated exogenous were incubated without function-blocking integrinβ1/3 antibody evaluating integrins on adhesion. Proliferation measured by BrdU incorporation, fibronectin (FN) determined...
Galectin-3 (Gal-3), a ubiquitously expressed gene involved in many cellular processes, has been recently recognized as factor related to endometrial receptivity. However, the precise biological function of Gal-3 endometrium and its regulation is still unclear. In this study, we detected antiapoptotic role cells expression regulated by estrogen progesterone. We found that increased when exposed apoptosis inducer staurosporine. Gal-3-silenced were more sensitive inducer. Estradiol (E2)...
The purpose of this study was to evaluate the diagnostic utility karyotype analysis amniotic fluid for fetuses with abnormal sonographic findings and determine detection rates karyotypes.We conducted a retrospective 5328 in first or second trimester enrolled from October 1998 September 2015. Cytogenetic results were obtained all these pregnancies. Sonographic abnormalities stratified according anatomic system involvement.A total 238 karyotypes encountered (4.5%). highest rate chromosomal...
During the period of 2018–2020, we first combined reported low-pass whole genome sequencing and NGS-based STR tests for miscarriage samples analysis. Compared with G-banding karyotyping, system increased detection rate chromosomal abnormalities in to 56.4% 500 unexplained recurrent spontaneous abortions. In this study, a total 386 loci were developed on twenty-two autosomes two sex chromosomes (X Y chromosomes), which can help distinguish triploidy, uniparental diploidy maternal cell...
Genetic kidney disease is a major cause of morbidity and mortality in neonates end-stage renal (ESRD) children adolescents. diagnosis provides key information for early identification congenital reproductive risk counseling. Preimplantation genetic testing monogenic (PGT-M) as technology helps prospective parents to prevent passing on disease-causing mutations their offspring.
Objective: To evaluate the effect of preimplantation genetic testing for aneuploidy (PGT-A) in infertile patients with recurrent pregnancy loss (RPL). Methods: A prospective randomized clinical trial was performed a university-affiliated fertility center Shanghai, China. Patients PGT-A group underwent blastocyst biopsy followed by single-nucleotide polymorphism microarray-based and single euploid transfer, whereas control routine vitro fertilization/ICSI procedures frozen embryo transfer 1-2...
Robertsonian translocations are common structural rearrangements and confer an increased genetic reproductive risk due to the formation of trivalent structure during meiosis. Studies on show meiotic heterogeneity between different translocation carriers, although factors causing have not been well elaborated in blastocysts. It is also yet known whether interchromosomal effect (ICE) phenomenon occurs comparison with suitable non-translocation control patients. Herein, we aimed evaluate that...
Objective: To evaluate whether preimplantation genetic testing for aneuploidy (PGT-A) with comprehensive chromosome screening increases live birth rate (LBR) in normal karyotype couples recurrent pregnancy loss (RPL). Methods: A retrospective cohort follow-up study of 506 RPL was conducted between April 2014 and March 2017. Couples were allocated to two groups according their decision choose PGT-A or not. The primary outcome LBR per start/transfer cycle; secondary outcomes ongoing...
Advances in genetic technologies provide opportunities for patient care and ethical challenges. Clinical of patients with rare Mendelian disorders is often at the forefront those developments. Whereas classical polygenic inflammatory bowel disease (IBD), predictive value variants very low, prenatal diagnosis can inform families high risk severe disorders. Patients IL-10 signalling defects because pathogenic IL10RA, Il10RB, IL10 develop infantile onset that completely penetrant has a...
Introduction Pregnancy loss (PL) is an adverse life event, and there no proven effective treatment for recurrent PL (RPL). Preimplantation genetic screening (PGS) can be performed to reduce the risks of PL; however, still solid scientific evidence that PGS improves outcomes couples experiencing RPL. Comprehensive chromosome (PGS2.0) has become a routine practice in vitro fertilisation (IVF) clinics. Previous studies based on PGS1.0 with focus RPL where female advanced maternal age have...
Background: The aim of this study was to retrospectively investigate the 18-year experience prenatal diagnosis fetal karyotype analysis by amniocentesis. Methods: In study, authors reviewed cytogenetic results 40,208 fetuses with indications for amniocentesis enrolled from December 1998 2015. Cytogenetic amniotic fluid performed in all these pregnancies. Eight were included. detection rate and distribution abnormal karyotypes observed each indication. Results: Among samples, maternal serum...