Table 3. Clinical and laboratory characterization of all couples obtaining assisted reproductive technology and preimplantation genetic testing for beta thalassemia/hemoglobin E disease in this study.
ID | Maternal Age (years) | Paternal Age (years) | Maternal HBB Mutation | Paternal HBB Mutation | No. of Cycle | PGT-A Choice | Outcome |
---|---|---|---|---|---|---|---|
001 | 35 | 33 | c.126_129delCTTT | c.79G>A | 1 | NGSa | Successful pregnancy with live birth of a male baby |
002 | 33 | 33 | c.79G>A | c.52A>T | 2 | NGS | Successful pregnancy with live birth of female monozygotic twins |
003 | 35 | 36 | c.79G>A | c.52A>T | 1 | NGS | Successful pregnancy with first trimester miscarriage |
004 | 36 | 37 | c.316-197C>T | c.79G>A | 1 | NGS | Failed implantation |
005 | 36 | 36 | c.79G>A | c.2T>G | 4 | NGS | Failed implantation |
006 | 35 | 37 | c.92+5 G>C | c.79G>A | 1 | NGS | Successful pregnancy with live birth of a male baby |
007 | 41 | 44 | c.79G>A | c.316-197C>T | 2 | NGS | No embryos suitable for transfer |
008 | 37 | 37 | c.79G>A | c.126_129delCTTT | 2 | aCGHb | Successful pregnancy with live birth of a male baby |
009 | 37 | 39 | c.316-197C>T | c.79G>A | 1 | aCGH | Successful pregnancy with live birth of a female baby |
010 | 38 | 39 | c.316-197C>T | c.79G>A | 1 | aCGH | Failed implantation |
011 | 32 | 36 | c.79G>A | Deletion | 1 | aCGH | Successful pregnancy with live birth of male monozygotic twins |
012 | 38 | 33 | c.79G>A | c.126_129delCTTT | 1 | aCGH | No embryos suitable for transfer |
013 | 26 | 34 | c.316-197C>T | c.79G>A | 1 | NGS | No embryos suitable for transfer |
014 | 33 | 37 | c.52A>T | c.79G>A | 1 | NGS | Successful pregnancy with live birth of a female baby |
015 | 31 | 32 | c.79G>A | c.52A>T | 2 | NGS | Successful pregnancy with live birth of a female baby |
aNGS = next-generation sequencing;
baCGH = array comparative genomic hybridization