{
  "abstract": "Purpose: To assess the extent to which expanded carrier screening (ECS) panels capture the genetic conditions for which preimplantation genetic testing for monogenic diseases (PGT-M) is performed.\n\nMethods: A retrospective observational study conducted at a single university-affiliated PGT unit from 2015 to 2023. Women undergoing PGT-M for autosomal recessive or X-linked genetic conditions were included. Genetic conditions were cross-matched with five ECS panels (four commercial panels and one publicly funded ECS panel) and compared with a targeted, population-specific screening. Coverage was assessed at both the woman and gene levels using paired statistical comparisons.\n\nResults: A total of 330 cases were included; seven women underwent PGT-M for two eligible conditions and were therefore counted twice. These cases involved 110 different genes with an uneven distribution: eight genes accounted for 53.2% of cases, while 71 genes were observed in a single case. At the individual-woman level, targeted, population-specific screening showed lower coverage (47.9%) than that of all ECS panels (71.8–91.5%), with overall differences statistically significant (P < 0.001). At the gene level, coverage ranged from 20.9 to 79.1% across panels (P < 0.001). The evaluated ECS panels included 271–787 genes, with the largest panel demonstrating higher case coverage than the other commercial panels.\n\nConclusions: Expanded carrier screening panels capture most autosomal recessive and X-linked genetic conditions for which PGT-M is performed. These findings support the clinical utility of ECS in identifying couples at risk of having children affected by such conditions.\n\nSupplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10815-026-03992-1.",
  "abstract_shown": true,
  "affiliations": [
    "Maccabi Health Care Services, Sharon District, Israel",
    "Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel",
    "PGT Unit, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel",
    "IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel",
    "IVF Unit, Department of Obstetrics and Gynecology, Hadassah Medical Center, Jerusalem, Israel"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Einat Zivi"
    },
    {
      "affs": [
        1
      ],
      "name": "Avia Clymer"
    },
    {
      "affs": [
        2
      ],
      "name": "Orit Freireich"
    },
    {
      "affs": [
        1,
        3
      ],
      "name": "Gheona Altarescu"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Ido Ben-Ami"
    },
    {
      "affs": [
        1,
        4
      ],
      "name": "Avi Tsafrir"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/2c11dpnf66rc6.bib",
  "cited_by": 0,
  "doi": "10.1007/s10815-026-03992-1",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13731626/",
  "id": "2c11dpnf66rc6",
  "issns": [
    "1058-0468",
    "1573-7330"
  ],
  "landing_url": "https://doi.org/10.1007/s10815-026-03992-1",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Research"
    ],
    [
      "openalex",
      "2735|Prenatal Screening and Diagnostics"
    ]
  ],
  "openalex": "W7201835192",
  "pdf_url": "https://link.springer.com/content/pdf/10.1007/s10815-026-03992-1.pdf",
  "pmcid": "PMC13731626",
  "pmid": "42565944",
  "published": "2026-08-07",
  "publisher": "Springer",
  "ris": "https://research.draconitic.com/paper/2c11dpnf66rc6.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:21:47Z",
      "native_id": "PMC13731626",
      "source": "pmc",
      "url": "https://doi.org/10.1007/s10815-026-03992-1"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Prenatal Screening and Diagnostics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Alignment between expanded carrier screening panels and conditions leading to PGT-M: a real-world cohort study",
  "title_text": "Alignment between expanded carrier screening panels and conditions leading to PGT-M: a real-world cohort study",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:21:47Z",
  "url": "https://research.draconitic.com/paper/2c11dpnf66rc6",
  "venue": "Journal of Assisted Reproduction and Genetics",
  "versions": []
}