Chromosomal concordance between babies produced by the preimplantation genetic testing for aneuploidies and trophectoderm biopsies: A prospective observational study. (March 2023)

• Record Type: Journal Article
• Authors: Yao, Zhongyuan; Wang, Xiaoxia; Zeng, Jun; Zhao, Jing; Xia, Qiuping; Zhang, Lei; Wu, Lingqian; Li, Yanping
• Is Part Of: European journal of obstetrics, gynecology, and reproductive biology. Volume 282(2023)
• Page Start: 7
• Page End: 11
• Publication Date: 2023-03
• Subjects: PGT-A preimplantation genetic testing for aneuploidies -- ICM inner cell mass -- CNVs copy number variations -- FISH fluorescence in situ hybridization -- aCGH array comparative genomic hybridization -- SNP single nucleotide polymorphism -- NGS next-generation sequencing -- ICSI intracytoplasmic sperm injection -- FET frozen embryo transfer -- HRT hormone replacement therapy -- NC natural cycle -- TE trophectoderm -- PGT-SR preimplantation genetic testing for chromosomal structural rearrangements -- CVS chorionic villus sampling; Preimplantation genetic testing for aneuploidies -- Trophectoderm biopsy -- Next-generation sequencing -- Mosaicism -- Aneuploidy; Obstetrics -- Periodicals; Gynecology -- Periodicals; Reproductive health -- Periodicals; Gynecology -- Periodicals; Obstetrics -- Periodicals; Reproduction -- Periodicals; Obstétrique -- Périodiques; Gynécologie -- Périodiques; Reproduction -- Périodiques; Verloskunde; Gynaecologie; Voortplanting (biologie); Gynecology; Obstetrics; Reproduction; Electronic journals; Periodicals; Electronic journals; 618.05
• DOI: 10.1016/j.ejogrb.2022.12.024
• Languages: English
• ISSNs: 0301-2115

Abstract

Abstract: Objectives: Contributed to the development of next-generation sequencing (NGS) technology, more and more chromosomally mosaic and aneuploid embryos are discovered during the preimplantation genetic testing for aneuploidy (PGT-A) cycles. Because mosaicism and aneuploidy are routine phenomena throughout human pre- and post-implantation development. The benefit of implanting such mosaicism or aneuploidies detected by precise NGS remains controversial. This study aimed to investigate chromosomal concordance between babies produced by PGT-A and trophectoderm (TE) biopsies, and whether precise NGS resolution would reduce the development of an abnormal embryo in PGT cycles. Study Design: Peripheral blood samples from 17 PGT-A babies were collected to compare with TE biopsy results at different NGS resolutions. Results: 16 euploid embryos diagnosed by 10 Mb resolution developed into 16 healthy babies with normal copy number variations (CNVs). One mosaic embryo diagnosed by both 10 Mb and 4 Mb resolution also produced a euploid baby finally. Among them, four euploid embryos diagnosed by 10 Mb NGS, showed segmental aneuploidy at 4 Mb NGS resolution. Four of them developed into euploid babies with normal CNVs finally. Conclusions: NGS at 10 Mb resolution is accurate enough to diagnose viable embryos. A more precise NGS resolution (e.g., 4 Mb resolution) results in discard of some potentially viable embryos. It is suggested to analyze the TE biopsy at both 10 Mb and 4 Mb resolutions to identify embryos with adverse chromosomal aberrations, but using 10 Mb resolution for guide transfer to increase a development chance of an embryo. Trial registration: www.ClinicalTrials.gov, identifier ChiCTR2100042522.