Background With the widespread application of chromosomal microarray analysis (CMA) in prenatal diagnosis, fetal gallbladder abnormalities have been found to be associated not only with chromosomal aneuploidies but also with certain syndromes caused by submicroscopic chromosomal structural variants. This study aimed to...
Xiao-Rui Xie, Xiao-Qing Wu, Ying Li et al.· PLoS ONE· 0 citations
Despite advances in prenatal diagnostics, the genetic causes underlying fetal ultrasound abnormalities remain poorly understood, with a significant proportion of cases lacking definitive molecular diagnoses. Invasive prenatal testing was performed in 179 cases, followed by whole-exome sequencing (WES) to identify gen...
Mei-Ying Cai, Na Lin, Hai-Long Huang et al.· Frontiers in Genetics· 0 citations
Objectives: To characterize the clinical and genetic features of Phelan–McDermid syndrome (PMS) in a Chinese prenatal and postnatal cohort, explore genotype–phenotype correlations, and provide evidence to support prenatal genetic counseling. Methods: G-banded karyotyping, single-nucleotide polymorphism arrays (SNP arra...
Hui-Li Xue, Yi-Fang Dai, Xiang-Lan Ye et al.· Journal of Clinical Medicine· 0 citations
SUA was most common in pregnant women aged 25–35 and significantly higher in primigravidas and nulliparous women with a history of miscarriage and Chromosomal abnormality rates increased with associated malformation number and occurred even in iSUA.
Yu-Qing Chen, Xiao-Qing Wu, Mei-Ying Cai et al.· Genetics Research· 0 citations
A pivotal role for m7G modification in environmental neurotoxicant-induced neurodegeneration is established and cobalt-related RNA regulatory paradigm is revealed that expands the understanding of heavy metal-driven epitranscriptomic dysregulation, and hence offering novel therapeutic targets.
Jianping Tang, Yanbin Ren, Jingwen Li et al.· Ecotoxicology and Environmen...· 1 citation
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