Non‑invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next‑generation sequencing.

ABSTRACT: Prenatal clinical detection of thalassemia involves gap‑PCR and reverse dot blot (RDB) analysis of fetal DNA acquired through invasive methods. The present study aimed to develop a non‑invasive prenatal diagnostic method for thalassemia based on next‑generation sequencing (NGS). A total of eight families with proband children with thalassemia were recruited for the study during a subsequent pregnancy. The sequence of the thalassemia genes of the parents and proband were determined using NGS, based on a thalassemia AmpliSeq panel. Cell‑free plasma DNA from pregnant women related to the aforementioned proband was analyzed using an NGS panel, based on thalassemia‑associated capture probes. Heterozygous single nucleotide polymorphisms within the 10 kb regions flanking exons of the targeted tha

SUBMITTER: Yang X 

PROVIDER: S-EPMC7339645 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature