Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?
Fertil Steril
; 114(2): 346-353, 2020 08.
Article
em En
| MEDLINE
| ID: mdl-32680612
ABSTRACT
OBJECTIVE:
To describe the outcome of preimplantation genetic testing (PGT-A) using their own oocytes in patients with mosaic Turner Syndrome (MTS). The impact of the assisted reproduction technique (ART) performed (PGT-A or oocyte donation) and the type of absence of the X chromosome (total or partial) were considered.DESIGN:
Retrospective observational multicenter study.SETTING:
University-affiliated private in vitro fertilization center. PATIENT(S) Fifty-six patients with MTS with whom 65 ovarian stimulation cycles for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) were performed. The study included 90 women with MTS and 20 women with pure Turner Syndrome (PTS) who underwent 140 and 25 oocyte donation (OD) cycles, respectively. INTERVENTION(S) In vitro fertilization for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) or OD. MAIN OUTCOME MEASURE (S) Reproductive outcome and feto-maternal outcomes.RESULTS:
The live birth rate (LBR) per embryo transfer in patients with MTS tended to be higher in OD 37.7% (95% confidence interval [CI] 29.3-46.1) than that observed for PGT-A 22.5% (95% CI 7.8-38.2), and the cumulative LBR (CLBR), with 77.6% vs. 43.3%, respectively. Likewise, the LBR per patient was significant when comparing PGT-A vs. OD, with 12.5% (95 CI 3.9-21.1) vs. 51.1% (40.7-61.4), respectively. While focusing on the X chromosome, partial MTS (PTS), we found significant differences in the CLBR per embryo transfer, with 77.6% vs. 29.2%, and also in the LBR per patient 51.1% (40.7-61.4) in MTS vs. 15% (95 CI 0.0-30.1) in PTS. CONCLUSION(S) Oocyte donation is the best reproductive option in females with Turner Syndrome with or without mosaicisms. Nevertheless, PGT-A is a valid therapeutic option in patients with MTS using their own oocytes, and OD should not necessarily be directly recommended.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Oócitos
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Síndrome de Turner
/
Testes Genéticos
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Diagnóstico Pré-Implantação
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Cromossomos Humanos X
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Recuperação de Oócitos
/
Infertilidade
/
Aneuploidia
Tipo de estudo:
Diagnostic_studies
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Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
País/Região como assunto:
Europa
Idioma:
En
Revista:
Fertil Steril
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Espanha