Improved Non-Invasive Preimplantation Genetic Testing for Beta-Thalassemia Using Spent Embryo Culture Medium Containing Blastocoelic Fluid

• Published in: Frontiers in endocrinology (Lausanne) 2022-01, Vol.12, p.793821-793821
• Main Authors: Ou, Zhanhui, Deng, Yu, Liang, Yunhao, Chen, Zhiheng, Sun, Ling
• Format: Article
• Language: English
• Subjects: beta-Globins - genetics; beta-Thalassemia - diagnosis; beta-Thalassemia - genetics; Biopsy; blastocyst; Culture Media - analysis; DNA - analysis; Embryo Culture Techniques; Endocrinology; Fertilization in Vitro; Humans; non-invasive; Polymorphism, Single Nucleotide; Preimplantation Diagnosis - methods; preimplantation genetic testing; spent culture medium; β-thalassemia
• ISSN: 1664-2392; 1664-2392
• DOI: 10.3389/fendo.2021.793821

To compare successful beta-thalassemia (β-thalassemia) detection rates obtained using spent culture medium and spent culture medium containing blastocoelic fluid (BF). This study involved data from 10 couples who underwent preimplantation genetic testing (PGT) for β-thalassemia. A total of 26 samples of spent culture medium containing BF (group A) and 33 samples without BF (group B) were collected and analyzed. The DNA concentration and β-thalassemia detection rates were evaluated. The mutation analysis results of 34 samples were concordant with the biopsy results (34/59, 57.6%). In group A, the mutation analysis results of 19 of 26 samples (73.1%) were concordant with the biopsy results. The concordance rate in group A was higher than that in group B (15/33, 45.5%; P < 0.05). The haplotyping results of 38 samples were concordant with the biopsy results (38/59, 64.4%). The concordance rate in group B was 17/33 (51.5%), which was significantly lower than that in group A (21/26, 80.8%) (P < 0.05). In group A, the mean DNA concentration of samples with