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A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings

At 17(+4) week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19(+3) week. Amniocentesis conducted at 19(+3) week identified karyotype 47, XX, +18,...

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Detalles Bibliográficos
Autores principales: Pan, Qiong, Sun, Baojuan, Huang, Xiaoli, Jing, Xin, Liu, Hailiang, Jiang, Fuman, Zhou, Jie, Lin, Mengmeng, Yue, Hongni, Hu, Ping, Ning, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255715/
https://www.ncbi.nlm.nih.gov/pubmed/25478006
http://dx.doi.org/10.1186/1755-8166-7-48