{
  "abstract": "Reproductive carrier screening (RCS) has made its way into the health care system in various countries. Current data suggest that 3.5 % of European couples are carriers for the same autosomal recessive disease and an additional 1.0 % of women are carriers of an X-linked disease. Once an increased genetic risk has been identified, couples can choose between a range of options, including prenatal or preimplantation diagnostics. Also alternatives apply such as gamete donation, reconsidering their desire to have children, adoption, or accepting a child with the condition.\n\nImproved reproductive autonomy is the main argument for RCS along with the concept of the best possible personalized medicine according to the current state of science and technology. The individual desire of couples to determine genetic risks for future children should be acknowledged and politically legalized. The authors outline the legal, genetic and reproductive, and ethical perspectives for RCS in the German healthcare system.",
  "abstract_shown": true,
  "affiliations": [
    "Institute of Human Genetics Medical University of Innsbruck Peter-Mayr-Straße 1 6020 Innsbruck Austria",
    "RWTH Aachen University Hospital Center for Human Genetics and Genomic Medicine Pauwelsstr. 30 52074 Aachen Germany",
    "University Hospital Bonn Department of Gynecological Endocrinology and Reproductive Medicine, VenusKind at UKB Venusberg-Campus 1 53127 Bonn Germany",
    "Bielefeld University Department of Biology Universitätsstr. 25 33615 Bielefeld Germany",
    "Institute for Tumor Genetics North Fraunhoferstr. 16 24118 Kiel Germany"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 5,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Sabine Rudnik-Schöneborn",
      "orcid": "0000-0001-8332-0672"
    },
    {
      "affs": [
        1
      ],
      "name": "Klaus Zerres",
      "orcid": "0009-0006-3368-5386"
    },
    {
      "affs": [
        2
      ],
      "name": "Nicole Sänger",
      "orcid": "0009-0001-2953-663X"
    },
    {
      "affs": [
        3
      ],
      "name": "Ursula Eichenlaub-Ritter",
      "orcid": "0009-0005-1213-844X"
    },
    {
      "affs": [
        4
      ],
      "name": "Simone Heidemann",
      "orcid": "0000-0002-4887-4423"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/cp0j27r8wa423.bib",
  "cited_by": 0,
  "doi": "10.1515/medgen-2026-3032",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13737864/",
  "id": "cp0j27r8wa423",
  "issns": [
    "0936-5931",
    "1863-5490"
  ],
  "landing_url": "https://doi.org/10.1515/medgen-2026-3032",
  "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",
      "Screening in Human Genetics – new opportunities, new responsibilities"
    ],
    [
      "openalex",
      "2735|Prenatal Screening and Diagnostics"
    ]
  ],
  "openalex": "W7225319788",
  "pdf_url": null,
  "pmcid": "PMC13737864",
  "pmid": "42992053",
  "published": "2026-11-06",
  "publisher": "De Gruyter",
  "ris": "https://research.draconitic.com/paper/cp0j27r8wa423.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:22:58Z",
      "native_id": "PMC13737864",
      "source": "pmc",
      "url": "https://doi.org/10.1515/medgen-2026-3032"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2735|Prenatal Screening and Diagnostics",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Reproductive carrier screening: perspectives for a future implementation in Germany",
  "title_text": "Reproductive carrier screening: perspectives for a future implementation in Germany",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:22:58Z",
  "url": "https://research.draconitic.com/paper/cp0j27r8wa423",
  "venue": "Medizinische Genetik",
  "versions": []
}