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

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.

Automated summary

This editorial discusses the clinical perspective of long-read sequencing method in the prenatal diagnosis of alpha- and beta-thalassemia, comparing it with standard PCR-based methods. The increased sensitivity and specificity of long-read sequencing provide an important advantage in the prenatal diagnostic field, as false positive or false negative results have greater consequences when families are making decisions about their pregnancy.