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Peer-reviewedCC BY 4.0Medizinische Genetik

Reproductive carrier screening: perspectives for a future implementation in Germany

  • Sabine Rudnik-Schöneborn1
  • Klaus Zerres2
  • Nicole Sänger3
  • Ursula Eichenlaub-Ritter4
  • Simone Heidemann5
5 affiliations
  1. 1Institute of Human Genetics Medical University of Innsbruck Peter-Mayr-Straße 1 6020 Innsbruck Austria
  2. 2RWTH Aachen University Hospital Center for Human Genetics and Genomic Medicine Pauwelsstr. 30 52074 Aachen Germany
  3. 3University Hospital Bonn Department of Gynecological Endocrinology and Reproductive Medicine, VenusKind at UKB Venusberg-Campus 1 53127 Bonn Germany
  4. 4Bielefeld University Department of Biology Universitätsstr. 25 33615 Bielefeld Germany
  5. 5Institute for Tumor Genetics North Fraunhoferstr. 16 24118 Kiel Germany
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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.

Improved 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.

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Cite

BibTeXRIS
BibTeX
@article{rudnikschoneborn2026reproductive,
  title = {{Reproductive carrier screening: perspectives for a future implementation in Germany}},
  author = {Sabine Rudnik-Schöneborn and Klaus Zerres and Nicole Sänger and Ursula Eichenlaub-Ritter and Simone Heidemann},
  journal = {Medizinische Genetik},
  year = {2026},
  month = nov,
  doi = {10.1515/medgen-2026-3032},
  url = {https://doi.org/10.1515/medgen-2026-3032},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Reproductive carrier screening: perspectives for a future implementation in Germany
AU  - Sabine Rudnik-Schöneborn
AU  - Klaus Zerres
AU  - Nicole Sänger
AU  - Ursula Eichenlaub-Ritter
AU  - Simone Heidemann
PY  - 2026
DA  - 2026/11/06
JO  - Medizinische Genetik
DO  - 10.1515/medgen-2026-3032
UR  - https://doi.org/10.1515/medgen-2026-3032
AB  - 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.  Improved 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.
SN  - 0936-5931
SN  - 1863-5490
ER  -