New Hemoglobinopathies Study Findings Have Been Reported by Investigators at University of California San Francisco (UCSF) (Non-invasive Prenatal Testing of Beta-hemoglobinopathies Using Next Generation Sequencing, in-silico...).

A study conducted by investigators at the University of California San Francisco (UCSF) has developed a non-invasive prenatal test for beta-hemoglobinopathies using next-generation sequencing. The researchers used maternal plasma and next-generation sequencing to test for sickle cell disease and beta-thalassemia. By analyzing the fetal fraction and using in-silico size selection and haplotyping, the researchers were able to accurately predict fetal genotypes. This study provides valuable insights into the development of non-invasive prenatal testing for genetic diseases. [Extracted from the article]