Evaluation of preimplantation genetic testing based on next-generation sequencing for balanced reciprocal translocation carriers.
Reprod Biomed Online
; 38(5): 669-675, 2019 May.
Article
en En
| MEDLINE
| ID: mdl-30885668
ABSTRACT
RESEARCH QUESTION Can next-generation sequencing (NGS) based on copy number variation sequencing (CNV-Seq) identify normal/balanced embryos in balanced reciprocal translocation carriers and what are their reproductive outcomes? DESIGN:
One hundred couples with balanced reciprocal translocation who underwent a total of 134 preimplantation genetic testing (PGT) cycles between January 2015 and October 2017 were evaluated. Trophectoderm cells of blastocysts were biopsied for CNV-Seq-based NGS. All the balanced/normal blastocysts were vitrified and cryopreserved. Single balanced/normal blastocysts were warmed and transferred in the subsequent frozen embryo transfer (FET) cycle.RESULTS:
During the study period, 400 blastocysts were analysed by NGS-PGT, of which 109 (27.25%) were balanced and euploid. A total of 52 blastocysts were transferred in the FET cycle. Clinical pregnancy was confirmed in 34 women (65.38%), with a miscarriage rate of 2.94%; 26 healthy term babies were born, including 24 singletons and one set of twins, while eight couples had ongoing pregnancies. Amniocentesis revealed a fetal chromosome status that was consistent with the NGS-PGT results. Female carriers had a significantly higher blastocyst rate than did the male carriers (37.01% versus 31.27%, Pâ¯=â¯0.04). The transferable blastocyst rate was higher in couples treated with gonadotrophin-releasing hormone (GnRH) antagonist than in those treated with GnRH agonist (38.20% versus 24.37%, P = 0.01). However, neither carrier sex nor ovarian stimulation protocol influenced the clinical pregnancy rate.CONCLUSIONS:
CNV-Seq-based NGS is an efficient and reliable PGT method for balanced reciprocal translocation.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Translocación Genética
/
Diagnóstico Preimplantación
/
Transferencia de Embrión
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Variaciones en el Número de Copia de ADN
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Secuenciación de Nucleótidos de Alto Rendimiento
Tipo de estudio:
Diagnostic_studies
/
Guideline
Límite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Reprod Biomed Online
Asunto de la revista:
MEDICINA REPRODUTIVA
Año:
2019
Tipo del documento:
Article
País de afiliación:
China