A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BACKGROUND: Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13). NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. False neg...

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Detalles Bibliográficos
Autores principales: Xu, Hui-Hui, Dai, Mei-Zhen, Wang, Kai, Zhang, Yang, Pan, Fei-Yan, Shi, Wei-Wu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339513/
https://www.ncbi.nlm.nih.gov/pubmed/32631433
http://dx.doi.org/10.1186/s12920-020-00751-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7339513/
https://www.ncbi.nlm.nih.gov/pubmed/32631433
http://dx.doi.org/10.1186/s12920-020-00751-8

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