The study process of prenatal diagnosis cases.

<div><p>Background</p><p>Pathogenic and likely pathogenic copy number variations (p/lpCNVs) detected through chromosomal microarray analysis (CMA) are crucial for understanding the etiology of birth defects. However, due to incomplete penetrance and variable phenotypic expres...

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Main Author:	Shiwei Ren (9308280) (author)
Other Authors:	Wenjing Gu (4978097) (author), Ting Liu (45625) (author), Jinyan Yan (831711) (author), Haixin Dong (21529274) (author), Chuchu Niu (22513266) (author), Lizhu Guo (12308084) (author), Huan Guo (102666) (author)
Published:	2025
Subjects:	Medicine Cell Biology Genetics Pharmacology Biotechnology Developmental Biology Infectious Diseases Virology Computational Biology Mathematical Sciences not elsewhere classified traditional karyotype analysis specific chromosomal regions jining medical university chromosomal microarray analysis assisted reproductive technology variable phenotypic expression significant phenotypic consequences intrauterine phenotypic characteristics whether cnvs could whitney u test karyotype analysis group cause structural abnormalities term longitudinal studies single clinical indication variations remain unclear variations &# 8217 data also suggest developmental delays ). xlink "> pathogenic likely pathogenic cnvs xlink "> developmental delays pathogenic cnvs phenotypic findings square test cardiovascular abnormalities pathogenic variations term follow term effects clinical phenotypes clinical outcomes clinical implications genetic variations cma group two groups stronger association statistical analyses risk pregnancies pregnant women potential impact phenotype correlations performed using main limitation large cohort incomplete penetrance help deepen future research first time fetal health cma ).
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The study process of prenatal diagnosis cases.

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