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Präkonzeptionsscreening

Preconception screening

  • Leitthema
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Gynäkologische Endokrinologie Aims and scope

Zusammenfassung

Hintergrund

Das erweiterte Präkonzeptionsscreening ist die gleichzeitige Untersuchung einer Vielzahl von Genen für rezessiv vererbte Erkrankungen mit der Methode der Hochdurchsatzsequenzierung (Next Generation Sequencing, NGS).

Fragestellung

Genetisch nicht verwandte Europäer tragen mindestens 2 pathogene Varianten in Genen für rezessive Erkrankungen. Bei 0,8–1 % der europäischen Paare besteht ein Risiko für ein Kind mit schwerer rezessiver Erkrankung. Nach humangenetischer Beratung kann für Kinderwunschpaare eine genetische Untersuchung (Präkonzeptionsscreening, erweitertes panethnisches Carrier-Screening) erfolgen, die sie über gemeinsame Anlageträgerschaften für pathogene Varianten informiert.

Ergebnisse

Das Präkonzeptionsscreening ist neben der Chromosomenanalyse eine wichtige genetische Untersuchung im Rahmen der Familienplanung. Nach Aufklärung über die Möglichkeiten, Grenzen und Risiken der Untersuchung kann das Paar eine informierte Entscheidung treffen.

Methoden

Mit der Hochdurchsatzsequenzierung (NGS) wird eine Vielzahl von Genen gleichzeitig auf das Vorliegen pathogener Sequenzvarianten untersucht. Für manche rezessive Erkrankungen sind zusätzliche Untersuchungen notwendig.

Schlussfolgerungen

Das Präkonzeptionsscreening kann bei einem Paar ein individuelles Risiko für eine genetische Erkrankung erkennen und benennen. Je nach Anlageträgerschaft kann das Paar verschiedene Optionen bezüglich eigener Familienplanung in Erwägung ziehen (z. B. Pränataldiagnostik, Präimplantationsdiagnostik). Beim Präkonzeptionsscreening handelt es sich um eine Risikominderung, niemals um einen Risikoausschluss.

Abstract

Background

Extended preconception screening is the simultaneous analysis of multiple genes for recessively inherited diseases using high-throughput sequencing (next-generation sequencing).

Objective

Nonconsanguineous couples of European ancestry carry at least two pathogenic variants in genes for autosomal recessive disorders. In 0.8%–1% of European couples there is a risk of having a child with a severe recessive disorder. A genetic test (preconception or extended panethnic carrier screening), which provides information about the joint carrier status for pathogenic variants, can be offered to these couples after genetic counselling.

Results

In addition to chromosome analysis, preconception screening is an important genetic test within the scope of family planning. After genetic counselling about the options, limits and risks of the test, the couples can make an informed decision on how to proceed.

Methods

Employing next-generation sequencing, a large number of genes can be investigated in a single diagnostic approach for the presence of pathogenic sequence variants. Additional tests are required for some recessive diseases.

Conclusion

Preconception screening can detect the individual risk of a recessive disease by analysis of the carrier status. Depending on the carrier status, the couple are offered additional options for family planning (e.g. prenatal diagnostics, preimplantation genetic testing). Preconception screening therefore results in a risk reduction but never in a risk exclusion.

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Authors and Affiliations

  1. MGZ – Medizinisch Genetisches Zentrum, Bayerstr. 3–5, 80335, München, Deutschland

    Carolina Courage,  Udo Koehler, Stephanie Kleinle, Teresa Neuhann, Elke Holinski-Feder & Angela Abicht

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  1. Carolina Courage
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  2. Udo Koehler
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  3. Stephanie Kleinle
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Correspondence to Udo Koehler.

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Interessenkonflikt

C. Courage, U. Koehler, S. Kleinle, T. Neuhann, E. Holinski-Feder und A. Abicht geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Georg Griesinger, Lübeck

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Courage, C., Koehler, U., Kleinle, S. et al. Präkonzeptionsscreening. Gynäkologische Endokrinologie 20, 116–124 (2022). https://doi.org/10.1007/s10304-021-00434-2

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