Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice.

This study aimed to assess the efficiency of CNV-seq and WES in detecting genetic cause of congenital heart disease (CHDs) in prenatal diagnoses and to compare CNV detection rate between isolated and non-isolated CHD cases. We conducted a retrospective study of 118 Chinese fetuses diagnosed with CHD by prenatal ultrasound. Participants underwent CNV-seq and, if necessary, WES to detect chromosomal and single nucleotide variations.

[Clinical features and genetic analysis of two fetuses with ring chromosome 21 mosaicism].

Objective: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms.

Methods: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected.

Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.

Fetal cystic hygroma (CH) is associated with poor prognosis and chromosomal anomalies. Recent studies have suggested that the genetic background of affected fetuses is essential for predicting pregnancy outcomes. However, the detection performance of different genetic approaches for the etiological diagnosis of fetal CH remains unclear.

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Objective: We assessed the frequency and type of associated congenital anomalies encountered with fetal tethered spinal cord (TSC) determined prenatally.

Method: A retrospective review was conducted based on the associated fetal abnormalities following diagnosis of low-lying fetal conus medullaris during the prenatal ultrasound.

Results: Of the 26 fetuses with low-lying conus medullaris, four were solitary TSC and 22 had TSC combined with associated congenital malformations, including four cases with spina bifida occulta, four cases with spina bifida aperta, one case with severe hydrocephalus, and 13 cases with multisystem congenital malformations.

Overexpression of the PLK4 Gene as a Novel Strategy for the Treatment of Autosomal Recessive Microcephaly by Improving Centrosomal Dysfunction.

Autosomal recessive microcephaly and chorioretinopathy (MCCRP) is a neurodevelopmental disorder characterized by delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities, and its occurrence has been found to be closely related to variants of the gene encoding centrosomes. However, the association between centrosomal duplication defects and the etiology of microcephaly syndromes is poorly understood. It is well known that polo-like kinase 4 (PLK4) is a key regulator of centriole duplication, and the abnormalities of centrosomal function caused by its protein variation need to be further explored in the pathogenesis of microcephaly.

Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report.

Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype-phenotype correlation.

Case Report: A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect.

Performance evaluation of urban environmental governance in Anhui Province based on spatial and temporal differentiation analyses.

When the process of urbanization has brought economic benefits in the Yangtze River Delta of China, environmental pollution becomes increasingly prominent. In order to achieve integrated sustainable green development and reduce the gap in environmental governance performance between regions, this study analyzed the environmental issues of provincial cities in Anhui Province from 2013 to 2017 in the urban agglomeration of Yangtze River Delta. Governance performance is analyzed and the evaluation index system framework is determined using the "pressure-state-response" model with the panel and spatial data.

Assessing the corporate green technology progress and environmental governance performance based on the panel data on industrial enterprises above designated size in Anhui Province, China.

Assessing the corporate green technology progress and environmental governance performance is essential to estimate the technological levels and environment regulation capabilities of enterprises. With the official statistics of collected panel data, we estimate and evaluate the differential levels of provincial corporate green technology and environmental governance performance of industrial enterprises above designated size (IEADSs) in Anhui Province across multiple dimensions. We firstly chose each surveyed city as the decision-making unit (DMU) in data envelopment analysis (DEA).

[Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene].

Objective: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.

Methods: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.

Results: The fetus was found to harbor a c.

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.

Aim: Achondrogenesis type II is a rare, lethal osteochondrodysplasia with considerable phenotypic heterogeneity. We describe our experience in diagnosing prenatal-onset achondrogenesis type II by a multidisciplinary assessment.

Methods: Two cases of fetal achondrogenesis type II were analyzed retrospectively using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of .

Empirical analysis of the intelligent influence factors of social network services effectiveness in e-commerce based on human learning behaviors.

It is crucial for companies to understanding users' choices and learning behaviors, and the corresponding influencing factors and cognitive patterns regarding social network services to communicate with potential customers. In this study, a casual structural model was constructed and developed to model and characterize the relationships between problems to be resolved as antecedent variables and success factors as consequent variables with the intermediary variables based on human learning behaviors, whereas the concept of social network service was introduced to summarize the current issues of social network services and empirically factors affecting effectiveness of social network services. This study highlighted the corporate need to examine the intelligent role and learning effectiveness of social network services when studying social creativity and intelligence in a social networking environment.

The impact of differentiated technological innovation efficiencies of industrial enterprises on the local emissions of environmental pollutants in Anhui province, China, from 2012 to 2016.

The study was designed to evaluate the impact of differentiated technological innovation efficiencies of industrial enterprises on the local emissions of environmental pollutants in Anhui province, China, during the period of 2012-2016. The econometric models of DEA and SEM-PLS and Malmquist index are used to explore the potential impacts of differentiated technological innovation efficiencies of industrial enterprises on the local emissions of environmental pollutants in Anhui province. After an initial analysis of SEM-PLS model, the models of DEA and Malmquist index are used to evaluate the differentiated degrees and dynamic development levels of local technological innovation efficiencies of industrial enterprises in different regions of Anhui province.

Mutation Analysis of COL1A1 and COL1A2 in Fetuses with Osteogenesis Imperfecta Type II/III.

Aim: To analyze COL1A1/2 mutations in prenatal-onset OI for determine the proportion of mutations in type I collagen genes among prenatal onset OI and to provide additional data for genotype-phenotype analyses.

Material And Methods: Ten cases of severe fetal short-limb dwarfism detected by antenatal ultrasonography were referred to our center. Before the termination of pregnancy, cordocentesis was performed for fetal karyotype and COL1A1/2 gene sequencing analysis.

Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases.

Objective: To describe our 2 year experience in diagnosing prenatal-onset osteogenesis imperfecta (OI) by multidisciplinary assessment.

Methods: We retrospectively analyzed 10 cases of fetal OI by using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL1A1/2.

Results: By postnatal radiographic examination, five patients were diagnosed with type II OI and five were diagnosed with type III OI.

Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia: a rare placental abnormality.

Background. Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia (PMD) coexisting with a normal viable fetus is very rare. The literature was reviewed to explore the incidence and genetic origin of this condition.

Investigation of the frequencies of prenatally diagnosed fetal chromosomal abnormalities at a single institution.

The objective of this study was to investigate, retrospectively, the frequencies of fetal chromosomal abnormalities identified in 4176 prenatal cytogenetic examinations at the Xiamen Maternity and Child Health Care Hospital over the 5-year period from October 2005 to September 2010. The frequency of abnormal fetal karyotypes was 4.6%.