Identification of mosaic and segmental aneuploidies by next-generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array-comparative genomic hybridization
| Autor: | Lin-Kin Wong, Huai-Lin Wang, Chia-Lin Hsieh, Shee-Uan Chen, Hsing-Hua Lai, Tzu-Hsuan Chuang, Meng-Ju Lee |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Preimplantation genetic haplotyping lcsh:QH426-470 Preimplantation genetic screening/chromosome mosaicism/segmental aneuploidy/next-generation sequencing Aneuploidy Biology Bioinformatics Biochemistry Andrology 03 medical and health sciences 0302 clinical medicine Genetics medicine Blastocyst Molecular Biology Genetics (clinical) 030219 obstetrics & reproductive medicine Research Biochemistry (medical) Cytogenetics Embryo medicine.disease Embryo transfer Human genetics lcsh:Genetics stomatognathic diseases 030104 developmental biology medicine.anatomical_structure embryonic structures Molecular Medicine Comparative genomic hybridization |
| Zdroj: | Molecular Cytogenetics Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-11 (2017) |
| ISSN: | 1755-8166 |
| Popis: | Background Chromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably lower than the euploid embryos. The superior capability of next-generation sequencing (NGS) to detect chromosomal mosaicism in preimplantation genetic screening (PGS) remains controversial, and several data displayed similar implantation and pregnancy rates using NGS or array comparative genomic hybridization (aCGH). Results In this study, the main inconsistency of aneuploidy detection and clinical performance between the NGS and aCGH were assessed. The phase I consisted of a parallel comparison in 182 blastocysts from 45 selected PGS patients for both the NGS and aCGH platforms. The phase II retrospectively compared the clinical outcomes of 90 patients with NGS-screened euploid embryo transfer to that of 129 patients with aCGH-screened euploid embryo transfer. The parallel comparison showed that the inconsistency of embryo euploidy was 11.8% (p = 0.01). Chromosomal mosaicism (10.7% with NGS vs. 3.9% with aCGH) and segmental aneuploidy (10.7% with NGS vs. 6.7% with aCGH) contributed to the discrepancy mainly. The chromosomally mosaic embryos (20%–50% of aneuploidy) and several embryos with segmental aneuploidy (≥10 Mbp) were hard to distinguish using the aCGH platform, but could be clearly identified using the NGS platform. After the first euploid embryo cryotransfer, the β-HCG(+) rate and implantation rate significantly increased in the PGS/NGS patients (HCG[+] rate: 73.3% in PGS/NGS vs. 60.5% in PGS/aCGH, p = 0.048; implantation rate: 53.2% in PGS/NGS vs. 45.0% in PGS/aCGH, p = 0.043). The clinical and ongoing pregnancy rates appeared higher in the NGS group, but did not reached statistical significance. Conclusions The results demonstrated that the NGS platform can identify embryos with chromosomal mosaicism and segmental aneuploidy more precisely than the aCGH platform, and the following clinical performance of NGS was more favorable. |
| Databáze: | OpenAIRE |
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