Detection of SEA-type α-thalassemia in embryo biopsies by digital PCR

Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in  vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications.

Source: Taiwanese Journal of Obstetrics and Gynecology - August 1, 2017 Category: OBGYN Authors: Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang Tags: Original Article Source Type: research