{
  "abstract": "Objective\n\nTo describe a case of false-negative preimplantation genetic testing for aneuploidy (PGT-A) and noninvasive prenatal test (NIPT) resulting in a neonate born with Down Syndrome.Design\n\nCase report.Subjects\n\nA 40-year-old multiparous woman with in vitro fertilization pregnancy due to a history of tubal ligation presenting to an academic medical center.Exposure\n\nPrenatal aneuploidy screening with PGT-A and cell-free DNA.Main outcome measures\n\nPGT-A test was conducted on a day 5 blastocyst which resulted as euploid. Subsequent NIPT test was obtained at 10 weeks and reported low-risk results.Results\n\nThe patient underwent vacuum-assisted vaginal delivery of a liveborn male infant with features of Down Syndrome. Postnatal karyotype confirmed nonmosaic trisomy 21.Conclusion\n\nPGT-A and NIPT are powerful tools used for risk reduction, but they do not eliminate risk.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Obstetrics and Gynecology, Loyola University Medical Center, Maywood, IL."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 4,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Jennifer Law"
    },
    {
      "affs": [
        0
      ],
      "name": "Kyra Ramsey"
    },
    {
      "affs": [
        0
      ],
      "name": "Nicole Sprawka"
    },
    {
      "affs": [
        0
      ],
      "name": "Joana Perdigao"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/55vmh9zq8tpsz.bib",
  "cited_by": 0,
  "doi": "10.1016/j.xfre.2026.06.010",
  "fulltext_url": "https://europepmc.org/articles/PMC13681269",
  "id": "55vmh9zq8tpsz",
  "issns": [
    "2666-3341"
  ],
  "landing_url": "https://europepmc.org/article/MED/42903648",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2735|Prenatal Screening and Diagnostics"
    ]
  ],
  "openalex": "W7167491608",
  "pdf_url": "https://europepmc.org/articles/PMC13681269?pdf=render",
  "pmcid": "PMC13681269",
  "pmid": "42903648",
  "published": "2026-07-06",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/55vmh9zq8tpsz.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:59Z",
      "native_id": "MED:42903648",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42903648"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Prenatal Screening and Diagnostics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "The limits of genetic screening: trisomy 21 after euploid preimplantation genetic testing for aneuploidy and negative noninvasive prenatal testing.",
  "title_text": "The limits of genetic screening: trisomy 21 after euploid preimplantation genetic testing for aneuploidy and negative noninvasive prenatal testing.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:59Z",
  "url": "https://research.draconitic.com/paper/55vmh9zq8tpsz",
  "venue": "F&S reports",
  "versions": []
}