Hehr, Andreas and Paulmann, Bernd and Gassner, Claudia and Krauss-Dreher, Susann and Seifert, Bernd and Hehr, Ute (2019) Preimplantation testing for monogenic disorders at the PGD centre Regensburg. MEDIZINISCHE GENETIK, 31 (3). pp. 266-274. ISSN 0936-5931, 1863-5490
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Here we report on the results of 316 diagnostic cycles of preimplantation genetic diagnosis (PGD) at our PGD center for 149 families at high risk of transmitting a monogenic disease to their offspring. Since 2001, we have performed a total of 251 polar body diagnosis (PBD) cycles. After obtaining the license as PGD center in June 2015, we subsequently performed 65 trophectoderm diagnostic (TED) cycles after trophectoderm (TE) biopsy (1.4/family). Our preliminary data confirm a high diagnostic efficiency of both procedures, with duplication of the pregnancy rate per transfer after TED to 48.2% compared with 22.9% after PBD. At an average rate of 4.3 available blastocysts per TED cycle, the rate of cycles without transferable embryos (27.7% for 6/45 families & x202f;= 13.3%) was, as expected, higher compared with PBD (14.7%) for an average of 8 oocytes per cycle with successful biopsy of both polar bodies. As early as the first transfer after TED, however, a clinical pregnancy could be achieved for 55.3% of the couples. Overall, TED enabled a clinical pregnancy for 68.5% of the families with transfer, after an average of 1.4 transfers and, overall a milder treatment with fewer TED diagnostic cycles (PBD: cumulatively 40.3% after 2.3 transfers), less hormone stimulation and correspondingly lower costs. In particular, the subgroup of female carriers of pathogenic repeat expansions, with lower PGD pregnancy rates overall, appears to benefit from TED, according to our preliminary data.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ESHRE PGD; MOSAICISM; EMBRYO; CYCLES; PGD; Trophectoderm; Polar body; Preimplantation diagnostics; Genetic testing |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Mar 2020 10:41 |
| Last Modified: | 24 Mar 2020 10:41 |
| URI: | https://pred.uni-regensburg.de/id/eprint/25835 |
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