Cargando…
Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay
OBJECTIVE: This study aimed to establish a cell-free fetal DNA (cffDNA) assay using multiplex digital PCR (dPCR) for identifying fetuses at increased risk of 22q11.2 deletion/duplication syndrome. METHODS: Six detection sites and their corresponding probes were designed for the 22q11.2 recurrent reg...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486099/ https://www.ncbi.nlm.nih.gov/pubmed/37684689 http://dx.doi.org/10.1186/s13023-023-02903-2 |