Clinical Perspective on Use of Long-Read Sequencing in Prenatal Diagnosis of Thalassemia

Abstract

This is an editorial focusing on the clinical perspective of a long-read sequencing method in the prenatal diagnosis of alpha- and beta-thalassemia, including a comparison between this method and standard PCR-based methods. Though incremental, the increased sensitivity and specificity using long-read sequencing is an important advantage of this methodology in the prenatal diagnostic arena due to false positive or false negative results having greater consequence when a family is making decisions about their pregnancy.

Keywords: Thalassemia; long-read sequencing; prenatal diagnostics.