Whole-exome sequencing analysis of amniotic fluid cells in 5 pregnant women with thalassemia: Case report.

ABSTRACT:

Rationale

While thalassemia is a monogenic disease that is relatively common worldwide, there is no recognized radical cure for thalassemia in current medical practice. Prenatal diagnosis is the most important contribution to thalassemia prevention, but due to its technical limitations, rare thalassemia mutations cannot be detected; and the birth of thalassemic babies cannot be completely circumvented. Whole-exome sequencing can, however, compensate for this shortcoming.

Patient concerns

We report the results of whole exon sequencing of amniotic cells in 5 pregnant women with thalassemia.

Diagnosis

Prenatal diagnosis revealed that 4 of them were α thalassemia carriers and 1 of them was β thalassemia carrier.

Interventions and outcomes

We collected amniotic flui

SUBMITTER: Zhang W 

PROVIDER: S-EPMC9704873 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature