A5003239959- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Congenital Anomalies and Fetal Surgery
- Parvovirus B19 Infection Studies
- Renal and related cancers
- Congenital Diaphragmatic Hernia Studies
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Single-cell and spatial transcriptomics
- Tumors and Oncological Cases
- Pediatric Urology and Nephrology Studies
- Congenital limb and hand anomalies
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Pregnancy and preeclampsia studies
- Congenital Heart Disease Studies
- Williams Syndrome Research
- Intestinal Malrotation and Obstruction Disorders
- Firm Innovation and Growth
- Assisted Reproductive Technology and Twin Pregnancy
- Birth, Development, and Health
- RNA modifications and cancer
Guangzhou Medical University
2022-2024
South China University of Technology
2022-2023
Southern Medical University
2022
Guangzhou Women and Children Medical Center
2022
Abstract Background Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into management remain limited practice. Herein, we report our experience implementing ES (pES) a large cohort of fetuses with anomalies detected by ultrasonography using hospital-based in-house multidisciplinary team (MDT) facilitated three-step genotype-driven followed phenotype-driven analysis framework. Methods We performed pES 1618...
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...
We aimed to investigate the value of exome sequencing (ES) in fetuses with callosal anomalies (CA) or without other structural anomalies, but normal findings by karyotyping and chromosome microarray analysis (CMA).Cases CA were screened for eligibility. Fetuses abnormal CMA results excluded. performed ES on DNA samples from eligible fetus-parental trios identified diagnostic genetic variants based ultrasonographic features.A total 50 successfully analyzed ES. found 17 likely pathogenic 14...
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 a chromosomal microarray (CMA) in fetuses with isolated fetal growth restriction (FGR) and explore risk factors for prediction aberration perinatal adverse outcomes. Method: This study included 271 estimated weight less than 3rd percentile without other structural malformation. Early-onset late-onset FGR were defined as gestational weeks 32 more respectively. These patients underwent quantitative fluorescent polymerase chain reaction (QF-PCR) CMA...
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...
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....
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...
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...
Currently, there are still many challenges in prenatal diagnosis, such as limited or uncertain fetal phenotyping, variant interpretation, and rapid turnaround times. The aim of this study was to illustrate the value a comprehensive genomic evaluation diagnosis. We retrospectively reviewed 20 fetuses with clinically significant copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) no further exome sequencing testing our tertiary center between 2019 2020. residual DNA...
<title>Abstract</title> 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 lesions patients controls were collected for scRNA-seq analysis. distribution analyzed. Differentially expressed gene enrichment major subpopulations as well cell-cell...
To assess prenatal diagnosis and pregnancy outcomes in twin pregnancies where one fetus has nuchal translucency (NT) above the 95th percentile.In this retrospective analysis, 130 (260 fetuses) which had an NT measurement percentile while that of other was normal were analyzed. Prenatal diagnostic results such as G bands, chromosomal microarray ultrasound findings, reviewed.Karyotype analysis CMA revealed 15 (15.6 percent, 15/96) fetuses exhibited abnormalities 13 Variant Uncertain...
(1) Objective: To evaluate the application of chromosomal microarray analysis (CMA) in fetuses with pulmonary atresia (PA) and to explore risk factors for predicting imbalances adverse perinatal outcomes. (2) Methods: This study investigated 428 cases PA singleton pregnancies that were tested using CMA quantitative fluorescent polymerase chain reaction (QF-PCR) as first-line genetic testing. The divided into two groups: an isolated group a non-isolated group. (3) Results: revealed clinically...
Abstract Objective: To assess the value of chromosomal microarray analysis (CMA) in fetuses with duodenal obstruction (DO) and to evaluate associated prenatal findings pregnancy outcomes. Methods: The study included 428 identified diagnostic centers between January 2015 May 2022, which 103 underwent invasive diagnosis. were classified into non-isolated isolated groups based on ultrasound DO or without other structural abnormalities. Quantitative fluorescence polymerase chain reaction...