Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.

Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.

Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.

Introduction: Genetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects. In this study, we have recruited seven families from China with neurodevelopmental abnormalities in which epilepsy was a predominant manifestation, aiming to elucidate the underlying causes and make a precise diagnosis for the cases.

Methods: Whole-exome sequencing (WES) combined with Sanger sequencing was used to identify the causative variants associated with the diseases in addition to essential imaging and biomedical examination.

APA scoring system: a novel predictive model based on risk factors of pregnancy loss for recurrent spontaneous abortion patients.

The aim of this study was to analyse the risk factors of pregnancy loss of patients with recurrent spontaneous abortion (RSA) and develop a scoring system to predict RSA. Clinical data of 242 cases, with RSA who were treated at Fujian Provincial Maternity and Children's Hospital, were selected. The factors of pregnancy loss for RSA patients were evaluated by univariate and multivariate analyses.

Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center.

Background: Pregnancy loss is one of the most common complications during pregnancy. Clinical consultation based on etiology analysis are critical for reducing anxiety and distress. This study aimed to perform a comprehensive analysis for products of conception (POC) in miscarriage based on genetic etiology and clinical information.

Comprehensive Assessment of Fetal Bilateral Ventriculomegaly Based on Genetic Disorders, Cytomegalovirus Infection, Extra Prenatal Imaging and Pregnancy Outcomes in a Tertiary Referral Center.

Objective: This retrospective study aimed to systematically evaluate the genetic disorders, cytomegalovirus (CMV) infection, extra ultrasound findings and outcomes of fetuses with bilateral ventriculomegaly (BVM).

Methods: Data from pregnancies with fetal BVM were obtained between 2014 and 2020. The cases were divided into groups of isolated bilateral ventriculomegaly (IBVM) and non-isolated bilateral ventriculomegaly (NIBVM) according to the presence of extra prenatal imaging.

[Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication].

Objective: To investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs) of 7q11.23 region.

Methods: Prenatal cases with 7q11.

[Study on clinical features and diagnostic methods of prenatal Wolf-Hirschhorn syndrome].

Objective: To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling.

Methods: We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses.

Results: Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis.

Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: A prospective clinical study.

Chromosomal microarray analysis (CMA) has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. The aim of this study was to compare the accuracy and value of CMA and karyotyping on diagnosis of chromosomal abnormalities in Fujian province of South China.In the study, 410 clinical samples were collected from pregnant women between March 2015 and December 2016, including 3 villus (0.

[Impact of confined placental mosaicism on non-invasive prenatal testing and pregnancy outcomes].

Objective: To assess the impact of confined placental mosaicism (CPM) on non-invasive prenatal testing (NIPT) and pregnancy outcomes.

Methods: Copy number variation sequencing (CNV-seq) and single nucleotide polymorphism array (SNP-array) were carried out on placental specimen sampled from eight pregnancies with confirmed false-positive NIPT results. The impact of CPM on NIPT and pregnancy outcomes were analyzed based on the laboratory tests and clinical characteristics.

[Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies].

Objective: To evaluate the efficacy of non-invasive prenatal screening (NIPS) for fetal sex chromosome anomalies.

Methods: A retrospective analysis was carried out for 20 802 women undergoing NIPS screening. For 165 cases suspected for fetal sex chromosomal anomalies, the results of invasive prenatal diagnosis were obtained.

Single nucleotide polymorphism array analysis of 102 patients with developmental delay and/or intellectual disability from Fujian, China.

Developmental delay/intellectual disability (DD/ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In this study, we evaluated the usefulness of single nucleotide polymorphism (SNP) array in the detection of genetic causes of 102 DD/ID patients from Fujian (China). Of them, clinically relevant variants (including pathogenic and likely pathogenic), variants of uncertain significance (VOUS), and no clinically relevant variants (including likely benign and benign) were detected in 19, 4 and 79 patients, accounting for 18.

Long-Molecule Sequencing: A New Approach for Identification of Clinically Significant DNA Variants in α-Thalassemia and β-Thalassemia Carriers.

Multiple molecular tests are currently needed for accurate carrier testing for thalassemia. Therefore, long-molecule sequencing (LMS) was evaluated as an alternate on the PacBio Sequel platform for genotyping carriers of α-thalassemia or β-thalassemia. Multiplex long PCR was used to generate representative amplicons for the α (HBA1/2) and β (HBB) gene loci.

Research into the intervention effect of folic acid on arsenic-induced heart abnormalities in fetal rats during the periconception period.

Background: The incidence of CHD is the highest among birth defects and is increasing year to year. CHD seriously harms the health of infants and young children and presents a large economic burden to families and society. The pathogenesis of CHD and preventive measures are the focus of current research.

LZAP promotes the proliferation and invasiveness of cervical carcinoma cells by targeting AKT and EMT.

: To explore the relationship and mechanism of LZAP in the occurrence and development of cervical cancer and to provide a new target and intervention method for the treatment of cervical cancer. : Data mining and analysis of LZAP expression levels were performed using several online databases, including The Cancer Genome Atlas (TCGA). A cervical cancer cell line that stably overexpresses LZAP was established, and the effect of LZAP overexpression on cell proliferation, invasion, migration and tumor formation in vivo as well as its mechanism were explored.

Identification of a novel pre-terminating mutation in human HBB gene as a cause of β-thalassemia phenotype.

Beta (β)-thalassemia (thal) is one of the most common genetic disorders of hemoglobin synthesis worldwide. Most cases of β-thal are caused by point mutations in hemoglobin subunit beta (HBB) gene, and only a minority of cases are caused by missing mutations of HBB gene. In this study, a 31-year-old pregnant woman with a typical thal phenotype was admitted at Fujian Provincial Maternity and Children's Hospital for prenatal diagnosis.

Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.

Background: Chromosomal microarray analysis (CMA) has been suggested to be routinely conducted for fetuses with ultrasound abnormalities (UA), especially with ultrasound structural anomalies (USA). Whether to routinely offer CMA to women of advanced maternal age (AMA) without UA when undergoing invasive prenatal testing is inconclusive.

Objective: This study aimed to evaluate the efficiency of CMA in detecting clinically significant chromosomal abnormalities in fetuses, with or without UA, of women with AMA.

[Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome].

Objective: To determine the origin of supernumerary small marker chromosomes (sSMCs) carried by two fetuses.

Methods: Single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis were carried out on cells cultured from the amniotic fluid samples.

Results: SNP-array analysis showed both fetuses to be arr[hg19]22q11.

Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China.

Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China. In this study, we present a large-scale genetic detection and molecular characterization of thalassemia and hemoglobinopathy in Fujian province, Southeastern China.

Optimization of regional median equations of prenatal screening markers for trisomy 21 in a Chinese population.

To establish gestational age-specific and body weight-specific mid-trimester normal median equations for the prenatal serum markers α-fetoprotein (AFP), free β subunit human chorionic gonadotropin (fβHCG), and unconjugated oestriol (uE3) for a Chinese population; to compare and replace the median equations built in LifeCycle software; to evaluate the effect of equations used for gestation correction on estimating risk in Down's syndrome, Edward's syndrome, and neural tube defect (NTD).A total of 353,065 cases of prenatal screening data of pregnant women were screened by 13 prenatal screening institutions in China. The local median equations of each institution and the large data were fitted by the least square regression, and then the difference was compared between large data equations and local median equations.

A rare α-thalassemia deletion, -α, is identified from three Chinese families in Fujian province.

Alpha (α)-thalassemia (thal) is a common single-gene genetic disease in southern China, which may cause Hb Bart's hydrops fetalis and Hb H disease. In α thal, one of the α genes is inactivated, due either to a deletion (-α) such as the rightward deletion (-α) and leftward deletion (-α), or to another form of mutation (αα), such as the Hb Constant Spring (αα). In this study, three probands from three Chinese families in Fujian Province showed HbH disease traits, while their common genotypes of α-thal were --/-- at a routine analysis.

Embryonic protective role of folate in arsenic-induced cardiac malformations in rats.

Background: To investigate impacts of sodium arsenic (NaAsO) on embryonic cardiac development in rats and evaluate the protective role of folate in NaAsO exposure rats.

Methods: We divided 90 female rats randomly into 9 groups. Group A was the control; group B-F were the animals fed with NaAsO in a series of increased doses, corresponding to 9.

Application of the BACs-on-Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions.

Prenatal diagnosis focuses on the detection of anatomic and physiologic problems with a foetus before birth. Karyotyping is currently considered the gold standard for prenatal diagnosis of chromosomal abnormalities, but this method can be time consuming. This study evaluated the diagnostic accuracy of the BACs-on-Beads (BoBs™) assay for the rapid diagnosis of aneuploidies and microdeletions.

[Prenatal diagnosis of a fetus with Miller-Dieker syndrome].

Objective: To report on prenatal diagnosis of a fetus with Miller-Dieker syndrome (MDS) and explore its genotype - phenotype correlation.

Methods: Chromosome karyotyping, bacterial artificial chromosome on beads (BACs-on-Beads, BoBs), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism microarray (SNP array) were applied in conjunction for the prenatal diagnosis of a fetus with abnormal ultrasound findings.

Results: A 17p13.

[Prenatal Diagnosis of A Case of SEA-HPFH Deletion Combined with Beta-Thalassemia in A Chinese Family].

Objective: To investigate the prenatal diagnosis of a case of SEA-HPFH deletion combined with beta-thalassemia in a Chinese family.

Methods: Gap-PCR and RDB methods were applied to test the genotype for the family.

Results: Mother showed a SEA-HPFH thalasemia trait phenotype, while her genotype was heterozygote for SEA-HPFH deletion; father showed a beta-thalassemia trait phenotype, while his genotype was heterozygote for IVS-II-654 mutation; the genotype of fetus was normal in these tests.

Molecular spectrum of β-thalassemia in Fujian Province, Southeastern China.

To provide basic information for β-thalassemia (β-thal) screening, genetic counseling and prenatal diagnosis (PND), we characterized β-thal mutations in Fujian Province, Southeastern China. A total of 16 different β-thal gene mutations were identified from 1058 patients. Of these, the IVS-II-654 (C>T) and codons 41/42 (-TCTT) were the most prevalent, accounting for 76.