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Article
Open AccessIntrauterine ultrasound phenoty**, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study
The 15q11.2 BP1-BP2 microdeletion is associated with neurodevelopmental diseases. However, most studies on this microdeletion have focused on adults and children. Thus, in this study, we summarized the molecul...
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Chapter and Conference Paper
An Improved YOLOv3-SPP Algorithm for Image-Based Pothole Detection
This paper proposes an improved YOLOv3-SPP crater target detection algorithm to address the issues of complex and variable backgrounds, diverse targets, and difficulty in detecting small targets in military sc...
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Article
Open AccessPrenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication...
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Article
Open AccessUltrasonographic characteristics, genetic features, and maternal and fetal outcomes in fetuses with omphalocele in China: a single tertiary center study
Patients with omphalocele, a midline abdominal wall defect at the umbilical cord base, have a low survival rate. However, the long-term outcomes of fetuses with prenatally diagnosed omphalocele have scarcely b...
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Article
Open AccessGenetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study
1q21.1q21.2 microdeletions/microduplications are rare and incompletely penetrant genetic mutations, and only a few reports regarding their prenatal diagnosis are currently available. Here, we analyzed the ultr...
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Article
Open AccessPrenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis
The genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and chromosomal microarray analysis (CMA) to investigate the genetic aberrations a...
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Article
Open AccessUsing single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China
Numerous studies have evaluated the use of single nucleotide polymorphism array (SNP-array) in prenatal diagnostics, but very few have evaluated its application under different risk conditions. Here, SNP-array...
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Article
Open Access16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
16p13.11 microdeletion/microduplication are rare genetic diseases with incomplete penetrance, most of which have been reported in adults and children, with ultrasound phenoty** in fetuses rarely described. H...
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Article
Open AccessPositive predictive value of noninvasive prenatal testing for sex chromosome abnormalities
Early and intermediate serological screening cannot detect sex chromosome abnormalities. Currently, noninvasive prenatal testing (NIPT) is the only procedure available for screening such disorders; however, it...
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Article
Open AccessFetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center
The etiology of fetal growth restriction (FGR) is complex and currently, there is a paucity of research about the genetic etiology of fetal growth restriction. We investigated the genetic associations and preg...
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Article
Open AccessEvaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios
Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pr...
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Article
Open AccessEvaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology an...
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Article
Open AccessPrenatal diagnosis of 22q11.2 copy number abnormalities in fetuses via single nucleotide polymorphism array
The q11.2 region on chromosome 22 contains numerous low-copy repeats that lead to deleted or duplicated regions in the chromosome, thereby resulting in different syndromes characterized by intellectual disabil...
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Article
Open AccessChromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype
Aortic arch abnormalities (AAA) are abnormal embryologic developments of the aorta and its branches. Their outcomes often depend on their association with other congenital diseases and genetic testing results.
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Article
Open AccessCopy number variations in ultrasonically abnormal late pregnancy fetuses with normal karyotypes
Many fetuses are found to have ultrasonic abnormalities in the late pregnancy. The association of fetal ultrasound abnormalities in late pregnancy with copy number variations (CNVs) is unclear. We attempted to...
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Article
Open AccessCopy number variations associated with fetal congenital kidney malformations
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This stud...
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Article
Open AccessSubmicroscopic aberrations of chromosome 16 in prenatal diagnosis
Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of sub...
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Article
Open AccessChromosomal abnormalities and copy number variations in fetal ventricular septal defects
This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior pre...
