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Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β‐thalassemia by a novel method of noninvasive prenatal testing

OBJECTIVE: The aim is to develop a novel noninvasive prenatal testing (NIPT) method that simultaneously performs fetal aneuploidy screening and the detection of de novo and paternally derived mutations. METHODS: A total of 68 pregnancies, including 26 normal pregnancies, 7 cases with fetal aneuploid...

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Detalles Bibliográficos
Autores principales: Yang, Lin, Wu, Yujing, Hu, Zhiyang, Zhang, Haiping, Pu, Dandan, Yan, Huijuan, Zhang, Sijia, Jiang, Hui, Liu, Qiang, Yuan, Yuying, Zhang, Yanyan, Chen, Fang, Lu, Yanping, Pan, Silin, Lin, Linhua, Gao, Ya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8048498/
https://www.ncbi.nlm.nih.gov/pubmed/33340121
http://dx.doi.org/10.1002/pd.5879