Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age

Abstract Background Pathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to screening of fetal CNVs. This study evaluated the clinical application of...

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Detalhes bibliográficos

Principais autores:	Yunyun Liu, Sha Liu, Jianlong Liu, Ting Bai, Xiaosha Jing, Cechuan Deng, Tianyu Xia, Jing Cheng, Lingling Xing, Xiang Wei, Yuan Luo, Quanfang Zhou, Dan Xie, Yueyue Xiong, Ling Liu, Qian Zhu, Hongqian Liu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-02-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Copy number variants Ultrasound soft markers Noninvasive prenatal screening Positive predictive value
Acesso em linha:	https://doi.org/10.1186/s13023-024-03066-4
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