A5101559317- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Parvovirus B19 Infection Studies
- Congenital Anomalies and Fetal Surgery
- Iron Metabolism and Disorders
- Folate and B Vitamins Research
- Hemoglobinopathies and Related Disorders
- Trauma and Emergency Care Studies
- Gestational Diabetes Research and Management
- Erythropoietin and Anemia Treatment
- Bone Tumor Diagnosis and Treatments
- Williams Syndrome Research
- Bone health and treatments
- Pregnancy and preeclampsia studies
- Genomic variations and chromosomal abnormalities
- Oral and Maxillofacial Pathology
- Congenital heart defects research
Shenzhen Maternity and Child Healthcare Hospital
2020-2024
Third Affiliated Hospital of Guangzhou Medical University
2024
Guangzhou Medical University
2024
Weatherford College
2022
Abstract Background Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal genetic abnormalities. However, the ability of NIPT detect copy number variations (CNVs) has not been reported. Accordingly, in this study, we analyzed efficiency detection autosomal CNVs. Methods Patients who were positive CNVs by and underwent diagnostic studies karyotype analysis chromosomal microarray (CMA) evaluated. Samples divided into groups according age, vitro fertilization, fetal‐free DNA...
<title>Abstract</title> Background Williams-Beuren syndrome (WBS) is a severe congenital disorder. Prenatal diagnosis of WBS difficult because the phenotypes fetuses are atypical or incomplete. This study used ultrasound, SNP array, and whole exome sequencing to analyze association between genotype complex phenotype in with WBS. Methods Chromosomal microarray analysis (CMA) genome were performed pregnant women prenatal diagnosis. Genome-wide copy number variants (CNVs), regions homozygosity...
Prenatal serological screening is commonly used to screen for trisomy 21 syndrome (T21); however, it carries a risk of missed detection. In this study, we explored how reduce diagnosis T21 in screening.
Down syndrome (DS) is a chromosomal disorder caused by third copy of all or part chromosome 21. Clinical observations and preclinical studies both suggest that DS may be associated with significant metabolic bioenergetic alterations. But the alterations in pregnant women carrying fetuses still remains unclear. In this study, we investigated characteristic metabolomics lipidomics changes during fetal development DS.The AF random urine specimens were selected from 20 healthy fetuses. The...
Abstract Background The study was a retrospective cohort analysis based on the results of noninvasive prenatal screening (NIPS), complete blood count, thyroxin test and Down’s syndrome in first or second trimester from 14043 pregnant women. Random forests algorithm applied to predict low fetal fraction cell free DNA (with FF lower than 10th percentile) through individual laboratory information. Performance model evaluated compared prediction using maternal weight.To investigate factors...
Abstract Objective To estimate the positive predictive value (PPV) of fetal sex chromosome aneuploidy (SCA) screened in non-selective population and explore rate pregnancy termination ultrasound findings for SCA factors influencing parents’ decisions South China. Methods This is a large-scale retrospective cohort from unselected singleton pregnancies by non-invasive prenatal testing (NIPT) single center tertiary hospital, January 2016 to November 2019. Clinical information, indications,...
Objective: To investigate factors associated with fetal fraction and to develop a new predictive method for low before noninvasive prenatal testing. Methods: The study was retrospective cohort analysis based on the results of testing, complete blood count, thyroxin test, Down's syndrome screening during first or second trimester in 14,043 pregnant women. Random forests algorithm applied predict status (fetal < 4%) through individual information laboratory records. performance model...
Abstract Objective To estimate the positive predictive value (PPV) of fetal sex chromosome aneuploidy (SCA) screened in non-selective population and explore rate pregnancy termination ultrasound findings for SCA factors influencing parents’ decisions South China.Methods This is a large-scale retrospective cohort from unselected singleton pregnancies by non-invasive prenatal testing (NIPT) single center tertiary hospital, January 2016 to November 2019. Clinical information, indications,...
More than 1300 mutations which lead to abnormal hemoglobin (Hb) have been recorded in the HbVar database. Hb Ty Gard has rarely reported and not China.A 2-year-old Chinese girl was healthy with normal physical development hematological parameters. Capillary electrophoresis suggested that F increased slightly, while A2 levels were normal. Flow cytometry, fluorescence hybridization, Sanger sequencing used characterize genotypes. detected a heterozygous mutation at codon 124 of β-globin gene...