A5101929212- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Fetal and Pediatric Neurological Disorders
- Maternal Mental Health During Pregnancy and Postpartum
- Congenital Anomalies and Fetal Surgery
- Neonatal Respiratory Health Research
- Pregnancy-related medical research
- Transplantation: Methods and Outcomes
- Pregnancy and preeclampsia studies
- Child and Adolescent Psychosocial and Emotional Development
- Gestational Trophoblastic Disease Studies
- Peptidase Inhibition and Analysis
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Macrophage Migration Inhibitory Factor
- Attachment and Relationship Dynamics
- RNA modifications and cancer
- Protease and Inhibitor Mechanisms
- Hematopoietic Stem Cell Transplantation
- Neurogenetic and Muscular Disorders Research
- Preterm Birth and Chorioamnionitis
- Congenital Heart Disease Studies
- Assisted Reproductive Technology and Twin Pregnancy
- Mesenchymal stem cell research
The First Affiliated Hospital, Sun Yat-sen University
2022-2024
Sun Yat-sen University
2022-2024
Xiamen University
2024
Xiamen Maternal and Child Health Hospital
2011-2019
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...
Objective This study aimed to investigate the relationship between pregnancy stress and mental health of pregnant women, employing a positive psychology perspective. Specifically, sought explore how two psychological qualities mindfulness peace mind may serve as potential mediators in association women. Methods Seven hundreds thirteen women seeking care at First Affiliated Hospital Sun Yat-Sen University were included this study. The participants completed self-report demographic...
This study aimed to assess the efficiency of CNV-seq and WES in detecting genetic cause congenital heart disease (CHDs) prenatal diagnoses compare CNV detection rate between isolated non-isolated CHD cases. We conducted a retrospective 118 Chinese fetuses diagnosed with by ultrasound. Participants underwent and, if necessary, detect chromosomal single nucleotide variations. The overall for pathogenic or likely abnormalities was 16.9%, including 7.6% aneuploidies 9.3% pathogenic/likely copy...
Background. Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia (PMD) coexisting a normal viable fetus is very rare. The literature was reviewed to explore the incidence genetic origin of this condition. Case. case first identified by prenatal ultrasonography, but diagnosis only included chorioangioma. PMD then confirmed during postnatal evaluation, which gross histologic examination placenta. macroscopic microscopic findings were consistent pregnancy. Genetic...
Background: Rapid aneuploidy detection (RAD) methods constitute important complements to karyotyping in prenatal diagnosis. We evaluated the effectiveness of a method called high-resolution melting analysis segmental duplications (SD-HRM) serve as an alternative RAD diagnosis common numerical chromosomal abnormalities (NCAs). Methods: designed eight primary SD-HRM assays for chromosomes 13, 18, 21, X, and Y; 50 chorionic villus, 1105 amniotic fluid, 395 cord blood samples were examined using...
The objective of this study was to investigate, retrospectively, the frequencies fetal chromosomal abnormalities identified in 4176 prenatal cytogenetic examinations at Xiamen Maternity and Child Health Care Hospital over 5-year period from October 2005 September 2010. frequency abnormal karyotypes 4.6%. Numerical chromosome were 150 cases. trisomy 21 by far highest, followed 18. Structural aberrations chromosomes 43 cases, including cases with balanced 22 unbalanced aberrations. In...
To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.Next-generation sequencing was carried out fetus, gravida and two her sisters.The fetus found to harbor c.1765T>C (p.Tyr589His) mutation in exon 14 L1CAM gene, which derived from gravida.Male fetuses with hydrocephalus should be subjected testing gene facilitate counseling prenatal diagnosis.
To verify the reliability of real-time PCR for detection genetic mutations underlying spinal muscular atrophy (SMA) and establish quality control clinical testing.Thirty-five patients, 61 first-degree relatives, healthy controls 7 prenatal cases which were previously genotyped by multiplex ligation-dependent probe amplification (MLPA) tested with Roche LightCycler 480 Bio-Rad CFX96 (TM) machines relative quantification copy number SMN1 exon 7.Genotyping detected quantitative consistent...
To analyze the anxiety, depression, and related factors among pregnant women with cervical insufficiency, so as to provide a reference for clinical psychological intervention an adjuvant therapy.A total of 101 cases in China insufficiency were included observation group by convenience sampling method, 114 normal healthy childbearing age selected control group. Participants investigated observed anxiety depression SAS SDS, respectively, emotional state influencing patients insufficiency....
To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms.Two who were diagnosed at Xiamen Maternal Child Health Care Hospital in November 2021 selected as study subjects. Clinical data collected. Conventional G-banded karyotyping chromosomal microarray analysis (CMA) carried out for their parents.Prenatal ultrasonography fetus 1 has revealed absence nasal bone, ventricular septal defect, persistent left superior vena cava,...
Objective To analyze the chromosome rearrangements and clinical outcome in fetus detected at prenatal diagnosis, provide information for genetic counseling about de novo chromosomal aberrations. Methods From January 2006 to December 2009, we found 12 cases of aberrations 2 583 cytogenetic analyses reviewed karyotypes, other experimental data, fetal ultrasound findings outcomes. Results Out aberrations, 10 had unbalanced translocations balanced reciprocal translocations. Eight 10unbalanced...
Objective To evaluate the clinical benefits and complications of amnioinfusion (AI) in treatment severe oligohydramnios during second trimester. Methods From October 2005 to September 2011, a total 57 pregnant women presenting with who were treated by AI trimester included into this study. Cordocentesis performed for chromosomal studies before AI, sonography was after AI. The outcomes followed up, effects observed. study protocol approved Ethical Review Board Investigation Human Being...