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
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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