A5101529876- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Thyroid Disorders and Treatments
- RNA modifications and cancer
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Connective tissue disorders research
- Parvovirus B19 Infection Studies
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Neonatal Health and Biochemistry
- Pediatric Hepatobiliary Diseases and Treatments
- Ubiquitin and proteasome pathways
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Genetic and Kidney Cyst Diseases
- Assisted Reproductive Technology and Twin Pregnancy
- Neonatal Respiratory Health Research
- Methemoglobinemia and Tumor Lysis Syndrome
- Blood disorders and treatments
- Lysosomal Storage Disorders Research
- Congenital Ear and Nasal Anomalies
Guangxi Maternal and Child Health Hospital
2015-2025
Guangxi Center for Disease Prevention and Control
2015-2025
Central South University
2021
Zero to Three
2021
United States Military Academy
2013
The aim of this study is to assess the disease incidence and mutation spectrum glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, determine an optimal cutoff value identify heterozygous female neonates. A total 130, 635 neonates were screened from year 2013 2017. Neonates suspected for G6PD further analyzed by quantitatively enzymatic assay analysis. overall was 7.28%. 14 mutations identified, different lead varying levels activities. best cut-off activity male subjects...
ABSTRACT Background The 10q26 microdeletion syndrome (OMIM #609625) is a distinct genomic disorder characterized by spectrum of clinical features including craniofacial anomalies, developmental delay (DD)/intellectual disability (ID), hypotonia, cardiovascular, and urogenital malformations. Despite the identification critical regions within linked to syndrome's phenotype, specific genes responsible for associated facial characteristics, microcephaly, cognitive issues, growth deficiencies...
To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate association pathogenic or likely copy number variants (P/LP CNVs) different types abnormality.This was a retrospective study at 14-36 weeks screened routinely for other structural abnormalities Maternal Child Health Hospital Guangxi Zhuang Autonomous Region. We retrieved analyzed data from examined between January 2013 November 2019, which...
Objective To evaluate the clinical application of expanded noninvasive prenatal screening (eNIPS) for genome-wide large copy number variation (CNV), i.e. chromosomal deletion/duplication >5 Mb, and aneuploidy; also to provide practical information counseling eNIPS positive cases.Method We recruited 34,620 women with singleton pregnancy cell-free plasma DNA sequencing. Screening cases were verified by karyotyping and/or SNP array.Result A total 461 (1.33%) identified through our cfDNA...
The incidence of congenital hypothyroidism (CH) differs significantly among different ethnicities and regions, early differentiation transient CH is important to avoid unnecessary prolonged treatment with L-T4.To investigate the based on newborn screening program in Guangxi Zhuang Autonomous Region, China, analyze predictors that might allow for an between permanent (P) (T) CH.Data from over a seven-year period (January 2009 January 2016) at Maternal Child Health Hospital are analyzed. Blood...
Abstract Non-immune hydrops fetalis (NIHF) is a complex condition with high mortality and morbidity rate. Here we report the etiology outcome of 1004 fetuses NIHF, in large single Maternal Children’s hospital Southern China, since year 2009 to 2016. Among these was identified prenatally 722 them (72%). The most common ones were hematologic diseases chromosomal abnormalities. There eight spontaneous abortions, 18 intrauterine fetal demise, 672 pregnancy terminations 87 lost follow-up. 219...
Objectives Defects in the human thyroid peroxidase ( TPO ) gene are reported to be one of causes congenital hypothyroidism (CH) due dyshormonogenesis. The aim this study was examine mutation spectrum and prevalence among patients with CH Guangxi Zhuang Autonomous Region China define relationships between genotypes clinical phenotypes. Methods Blood samples were collected from 192 Region, genomic DNA extracted peripheral blood leucocytes. All exons 10 common CH-associated genes including...
To evaluate the performance of noninvasive prenatal screening (NIPS) in detection common aneuploidies a population-based study, total 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 with reportable results, follow-up was successfully conducted 1160 fetuses reported high-risk result by and 82,511 cases (95.7%) low-risk result. The screen-positive rate (SPR) sex chromosome abnormalities (SCAs) provided 0.7% (586/83,671) 0.6% (505/83,671), respectively....
CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The characterized pattern congenital anomalies that involve in multiple organs. In this study, five patients were diagnosed as with CHD7 whole exome sequencing. Although the clinical phenotypes probands are highly variable and typical symptoms such coloboma choanal atresia not commonly manifested cohort, they all presented heart defects. Of note, dyspnea most...
Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It caused biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism PS can be present from birth therefore diagnosed neonatal screening. The aim of this study was to examine mutation spectrum prevalence among congenital hypothyroidism (CH) patients Guangxi Zhuang Autonomous Region China establish how frequently causes impairment our with...
Background: To evaluate the clinical performance and implementation of noninvasive prenatal testing (NIPT) using fetal fraction (FF) enrichment. Methods: Both standard NIPT with FF enrichment were performed concurrently to 277 samples. Results: On average, each sample processed by was 1.9-fold higher than without 88% (43/49) samples low in recovered method. 11 more copy number variants (CNVs) which confirmed diagnosis detected generated a positive predictive value 75% for CNVs (≥3 Mb 22q11.2...
Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy are rare events in live individuals. A combination of the two one individual is rarely encountered. Only six live-born cases have so far been reported.Here we reported a case concomitant UPD(14)mat 10-year-old Chinese patient. Most clinical features our patient were consistent with those previous for cases, which include prenatal postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability,...
Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry characteristic facial features. ~ 10% SRS cases are known to be associated with maternal uniparental disomy chromosome 7 (UPD(7)mat). Mosaic segmental UPD 7q (UPD(7q)mat) very rare, had only been described in case before.We reported a second mosaic involving 7q. The patient presented dysmorphic features including thin short...
Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene caused by chromosome 5p terminal deletion (5p-), which characterized high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented first retrospective prenatal series fetuses diagnosed single nucleotide polymorphism...