Abstract
ObjectivesTo compare successful beta-thalassemia (β-thalassemia) detection rates obtained using spent culture medium and spent culture medium containing blastocoelic fluid (BF).MethodThis 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.ResultsThe HBB mutation analysis results of 34 samples were concordant with the biopsy results (34/59, 57.6%). In group A, the HBB 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 <10% fragmentation was 107.3 ± 70.1 ng/μL, which was lower than that of samples with ≥10% fragmentation (194.6 ± 28.0 ng/μL) (P < 0.05). However, the detection rates of <10% and ≥10% fragmentation were not significantly different (P > 0.05).ConclusionThe β-thalassemia detection rate with non-invasive PGT using the spent culture medium containing BF was higher than that using the spent culture medium alone. Fragmentation is associated with DNA concentration in the spent culture medium containing BF.
Highlights
Beta-thalassemia (b-thalassemia) is one of the most common genetic diseases and is mainly caused by point mutations or small deletions in the beta-globin gene (HBB) [1]
In the samples of spent culture medium only, the mean DNA concentration in samples with 0.05; Table 2)
Non-invasive chromosome screening of human blastocysts based on the sequencing of genomic DNA in the culture medium has been increasingly performed, with acceptable results, but it has not been used in clinical settings [17, 23, 24]
Summary
Beta-thalassemia (b-thalassemia) is one of the most common genetic diseases and is mainly caused by point mutations or small deletions in the beta-globin gene (HBB) [1]. Hematopoietic stem cell transplantation is the only definitive cure available for patients with severe forms of b-thalassemia [6, 7]. This treatment is limited by the small number of HLA-matched healthy donors for most patients [8]. The identification methods include prenatal diagnosis and preimplantation genetic testing for monogenic disease (PGT-M). PGT-M involves the selection of an embryo without a known genetic disease for transfer during IVF treatment. This has become a routine procedure in in-vitro fertilization clinics worldwide for patients with monogenic diseases
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