{
  "abstract": "Objective\n\nTo clinically assess concordance between preimplantation genetic testing-whole-genome sequencing (PGT-WGS) and whole-genome sequencing results from corresponding live-born children, including evaluation of genome-wide variants, targeted gene panels, de novo variants, and genetic risk scores.Design\n\nPatients underwent a standard in vitro fertilization workflow with PGT-WGS. After pregnancy or live birth, patients were contacted for consent to participate in this study. This small study included 10 biopsy-child pairs. Deoxyribonucleic acid (DNA) samples were collected from children, and whole-genome sequencing was performed accordingly. Genetic findings from PGT-WGS were compared with the child's whole-genome sequencing results. For de novo variant assessment (3 biopsy-child pairs), parental samples were also requested.Subjects\n\nClinical trophectoderm biopsy samples, corresponding live-born children, and parental DNA samples.Exposure\n\nNo applicable.Main outcome measures\n\nVariant concordance across the whole genome and within designated gene panels; concordance of clinically relevant variants and de novo variants; concordance of functionally significant single-nucleotide polymorphisms (SNPs), including HLA and APOE; and resulting genetic risk scores.Results\n\nAnalysis of single-nucleotide variants (SNVs) and insertions/deletions (indels) identified an average of 3,562,534 variants genome-wide and 2,656 variants within the 1,200-gene panel per embryo-child pair, yielding a sensitivity of 97.6% and a precision of 98.4% on genome and 98.4% and 98.7% respectively, on monogenic panels.Traditional PGT approaches do not enable prospective screening for de novo variants. In this study, all 42 confirmed de novo variants detected in live-born children were also identified in the corresponding PGT-WGS results. High concordance (>99%) was observed on HLA, APOE, as well as SNPs used for genetic risk scores.Conclusion\n\nThis study provides a small clinical study comparing PGT-WGS results with whole-genome sequencing findings in live-born children. Preimplantation genetic testing-whole-genome sequencing, offered using an opt-in panel of approximately 1,200 genes, demonstrated high sensitivity and precision and enabled direct interrogation of the trophectoderm genome. It has the feasibility to identify de novo variants.",
  "abstract_shown": true,
  "affiliations": [
    "Laboratory Department, Orchid Health, Durham, North Carolina.",
    "Marin Fertility Center, Greenbrae, California."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 11,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Shenglai Li"
    },
    {
      "affs": [
        0
      ],
      "name": "Benjamin Podgursky"
    },
    {
      "affs": [
        0
      ],
      "name": "Maria Katz"
    },
    {
      "affs": [
        0
      ],
      "name": "Maxwell Silver"
    },
    {
      "affs": [
        0
      ],
      "name": "Thomas Giardina"
    },
    {
      "affs": [
        0
      ],
      "name": "Adriana Brown"
    },
    {
      "affs": [
        0
      ],
      "name": "Nicholas Schuch"
    },
    {
      "affs": [
        0
      ],
      "name": "Qinnan Zhang"
    },
    {
      "affs": [
        1
      ],
      "name": "Peter Uzelac"
    },
    {
      "affs": [
        0
      ],
      "name": "Noor Siddiqui"
    },
    {
      "affs": [
        0
      ],
      "name": "Yuntao Xia"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/035d2p1hm9gne.bib",
  "cited_by": 0,
  "doi": "10.1016/j.xfre.2026.08.002",
  "fulltext_url": "https://europepmc.org/articles/PMC13681319",
  "id": "035d2p1hm9gne",
  "issns": [
    "2666-3341"
  ],
  "landing_url": "https://europepmc.org/article/MED/42903677",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2735|Prenatal Screening and Diagnostics"
    ]
  ],
  "openalex": "W7203661176",
  "pdf_url": "https://europepmc.org/articles/PMC13681319?pdf=render",
  "pmcid": "PMC13681319",
  "pmid": "42903677",
  "published": "2026-08-18",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/035d2p1hm9gne.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:57Z",
      "native_id": "MED:42903677",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42903677"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Prenatal Screening and Diagnostics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Evaluating concordance of preimplantation genetic testing-whole-genome sequencing with genetic findings in live-born children.",
  "title_text": "Evaluating concordance of preimplantation genetic testing-whole-genome sequencing with genetic findings in live-born children.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:57Z",
  "url": "https://research.draconitic.com/paper/035d2p1hm9gne",
  "venue": "F&S reports",
  "versions": []
}