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
Copy number variation (CNV) is defined as a > 1-kb-long DNA fragment copy number increase or decrease, with fetal CNV judgment and genetic counseling posing difficulties. We tested and retrospectively analyzed fetuses using chromosomal microarray analysis (CMA), 169 with abnormal CNV being completely verified and f...
Meiying Cai, Wen-Qi Chen, Mei-Mei Fu et al.· Scientific Reports· 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
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