Cargando…
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma
BACKGROUND: Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound di...
Autores principales: | Dan, Shan, Yuan, Yuan, Wang, Yaoshen, Chen, Chao, Gao, Changxin, Yu, Song, Liu, Yan, Song, Wei, Asan, Zhu, Hongmei, Yang, Ling, Deng, Hongmei, Su, Yue, Yi, Xin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4959253/ https://www.ncbi.nlm.nih.gov/pubmed/27433940 http://dx.doi.org/10.1371/journal.pone.0159355 |
Ejemplares similares
-
Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA
por: Ma, Dingyuan, et al.
Publicado: (2017) -
Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma
por: Ye, Jun, et al.
Publicado: (2018) -
Prenatal‐onset INPPL1‐related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality
por: Abumansour, Iman Sabri, et al.
Publicado: (2021) -
Fetal Skeletal Lethal Dysplasia: Case Report
por: Savoldi, Alexandre Mello, et al.
Publicado: (2017) -
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
por: Pemberton, Lara, et al.
Publicado: (2020)