A5045178132- Prenatal Screening and Diagnostics
- Sexual Differentiation and Disorders
- Neurogenetic and Muscular Disorders Research
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- Hearing, Cochlea, Tinnitus, Genetics
- Genomic variations and chromosomal abnormalities
- Tracheal and airway disorders
- Metabolism and Genetic Disorders
- Pediatric Urology and Nephrology Studies
- Trace Elements in Health
- Urological Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genetic Syndromes and Imprinting
- Circular RNAs in diseases
- Biomedical Ethics and Regulation
- Iron Metabolism and Disorders
- Pleural and Pulmonary Diseases
- dental development and anomalies
- Ear Surgery and Otitis Media
- Esophageal and GI Pathology
- Abdominal Surgery and Complications
- Hormonal and reproductive studies
First Affiliated Hospital of Zhengzhou University
2020-2025
China Medical University
2025
A subset of uterine natural killer cells promotes fetal growth through regulation growth-promoting factors by PBX1.
Abstract Objective Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness due to spinal cord cell degeneration. Understanding its genetic basis crucial for counseling personalized treatment options. Methods This study retrospectively analyzed families of patients suspected SMA at our institution from February 2006 March 2024. Various molecular techniques, including multiplex ligation-dependent probe amplification analysis,...
Congenital adrenal hyperplasia (CAH) is a common metabolic genetic disease. Early diagnosis and intervention are crucial to improve the prognosis. Noninvasive prenatal (NIPD) an early, safe, accurate method. This study aimed evaluate NIPD of CAH while guiding individualized intrauterine treatment. Twenty families with 25% risk having baby 21-hydroxylase deficiency (21-OHD) were included. Haplotypes constructed based on targeted sequencing family linkage analysis. Relative haplotype dosage...
45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical genetic analyses have been performed in some disorders of sexual development, there few studies focusing on the phenotype details mosaicism, especially Chinese population. The aim this study was to describe experience our service relation 16 cases with mosaicism. age at first evaluation patients ranged from 43 days 30 years. Eight were reared as female 8 male. main reasons for examination...
Abstract Haplotype‐based noninvasive prenatal diagnosis (NIPD) is applicable for various recessive single‐gene disorders in proband families. However, a comprehensive exploration of critical factors influencing the assay performance, such as fetal fraction, informative single nucleotide polymorphism (SNP) count, and recombination events, has yet to be performed. It identify key affecting NIPD including its accuracy success rate, their impact on clinical diagnostics guide practice. We...
<title>Abstract</title> <bold>Background: </bold>The prenatal phenotype of neurological and neuromuscular monogenic diseases remains unclear. This study aimed to identify explore ultrasonic presentation in fetuses with neurologic increase our knowledge on causal variants novel candidate genes associated fetal phenotypes. <bold>Methods: </bold>This retrospective included 30 genetically diagnosed or suspected having who underwent trio-exome sequencing between January 2018 May 2023. We...
<title>Abstract</title> Background Noninvasive prenatal diagnosis (NIPD) has been proven available for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and application twin pregnancies blank. Here we provide a novel algorithmic approach assess first trimester. Results All of recruited participants, comprising sixteen women with one woman pregnancy, had proband NSHL caused by <italic>GJB2</italic> gene or...
<title>Abstract</title> Objective Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing both 5q and non-5q forms, causing muscle weakness due to spinal cord cell degeneration. Understanding its genetic basis crucial for counseling personalized treatment options. Methods This study analyzed families of patients with suspected SMA at our institution from February 2006 March 2024. Various molecular techniques, including multiplex ligation-dependent probe amplification (MLPA)...
Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant disorder mainly caused by the contraction and hypomethylation of D4Z4 repeat array in chromosome 4q35. Prenatal diagnosis FSHD1 challenging due to highly repetitive long genomic structure. In this study, a pregnant woman diagnosed with using optical genome mapping sought assistance for healthy offspring.
Abstract Background Molecular analysis of the CYP21A2 gene is highly important for understanding aetiology 21-hydroxylase deficiency (21-OHD). The aim this study was to use a novel approach named CNVplex, together with SNaPshot assay and direct sequencing, identify mutations efficiently comprehensively. Targeted mutation performed in 113 patients 226 parents. Large rearrangements were characterized by CNVplex; twenty prevalent mutations, including nine common micro-conversions eleven...
We investigated the genetic mutations involved in Wilson's disease to improve prenatal diagnosis and presymptomatic diagnosis.The polymerase chain reaction (PCR) was used amplify exons exon-intron boundaries of ATP7B gene 35 pedigrees.The PCR products were further analyzed by Sanger sequencing.Prenatal diagnoses performed chorionic villus sampling after genotypes parents probands identified.The overall mutation detection frequency 92.9%.A total 24 distinct detected, seven which are novel:...
To explore cytogenetic characteristics and fertility of carriers complex chromosome rearrangements (CCR) from Henan region.G-banded karyotyping analysis was carried out on peripheral blood lymphocytes derived 160 601 patients with reproductive abnormalities. Relevant literature retrieved domestic overseas databases. Cytogenetic clinical data CCR were analyzed.Twenty-seven identified among the patients. In addition, 6 cases database research. Among 33 carriers, there 17 three- four-way...
To detect variant of EDA gene in a fetus with absence germ teeth detected by prenatal ultrasonography.Clinical data and amniotic fluid peripheral venous blood samples the pregnant woman were collected for analysis. Following extraction genome DNA, coding regions amplified PCR subjected to next-generation sequencing. Candidate was verified Sanger sequencing.The found carry heterozygous c.574G>A gene, which hemizygous. Bioinformatic analysis suggested be pathogenic.Combined ultrasonographic...
本研究对郑州大学第一附属医院产科收入院的3例严重的胸腔积液胎儿进行了宫内干预，随访3个月至1年半，预后均良好。3例胎儿中，1例为右侧胸腔重度积液、左侧胸腔及腹腔少量积液的胎儿，1例为右侧重度胸腔积液伴羊水过多，1例为双侧重度胸腔积液伴羊水过多，所有患儿染色体和其他相关检查未见异常，超声也未发现其他异常。例1中胎儿右侧胸腔积液最早出现于孕17周时，孕期右侧胸腔积液量持续增加，至孕33周+4前超声可见左侧胸腔积液和腹腔积液，生后胎儿外观水肿。例2和例3胎儿胸水量持续增加，并伴有羊水过多，终止妊娠时未有全身水肿。宫内行胎儿胸腔穿刺引流术有助于诊断，促胎肺成熟后、剖宫产前再次行胎儿胸腔穿刺引流术有利于出生后肺扩张和新生儿复苏，出生后经对症支持等治疗，患儿均取得满意疗效，提示宫内干预并适时结束妊娠对胸腔积液胎儿具有良好的治疗效果，可以提高新生儿存活率。
Objective: To evaluate the efficacy of non-invasive prenatal screening (NIPS) in detection fetal aneuploidies. Methods: Cell free DNA was sequenced 5 566 pregnant women to identify aneuploidies First Affiliated Hospital Zhengzhou University from January 1(st), 2015 March 15(th), 2016. Among them, 230 (93.96%, 230/5 566) were singleton pregnancies and 336 (6.04%, 336/5 twin pregnancies. In pregnancies, 1 809 (34.59%, 809/5 230) with advanced maternal age, 3 421 (65.41%, 421/5 young women. The...