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Präimplantationsdiagnostik – methodische Aspekte

Preimplantation genetic diagnosis – methodical aspects

Zusammenfassung

Die Präimplantationsdiagnostik erfordert eine enge und vertrauensvolle interdisziplinäre Zusammenarbeit zwischen hoch qualifizierten Fachärzten und Naturwissenschaftlern aus Humangenetik und Reproduktionsmedizin. In einem sehr engen Zeitfenster müssen komplexe Laborabläufe standardisiert und qualitätsgesichert umgesetzt werden. In diesem Beitrag sollen orientierende Empfehlungen zur Umsetzung kurz vorgestellt werden. Zentral haben wir häufigere Problemsituationen thematisiert, welche bereits bei der Indikationsstellung wie auch bei den nachfolgenden Schritten in der genetischen Analyse, Datenauswertung und Befunderstellung mögliche Fehlerquellen darstellen. Ziel unserer verantwortlichen Arbeit an den PID-Zentren sollte eine hohe Geburtenrate bei hoher Diagnosesicherheit mit möglichst wenigen schonenden Behandlungszyklen sein.

Abstract

Preimplantation genetic diagnosis (PGD) requires close interdisciplinary cooperation between highly qualified physicians and scientists from human genetics and reproductive medicine.

In a very narrow time window, complex analytic tasks meeting high-quality standards must be completed. In this review, we recommend methodical guidelines and report on situations throughout PGD that may potentially give rise to misdiagnosis.

The central aim of our work at the PGD centers should be a high birthrate with high diagnostic accuracy, achieved with a minimal number of mild treatment cycles.

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Correspondence to Andreas Hehr.

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Interessenkonflikt

A. Hehr, B. Paulmann, L. Eichhammer, C. Gassner, B. Seifert und U. Hehr sind am PID-Zentrum Regensburg tätig und direkt in die Durchführung der Präimplantationsdiagnostik auf humangenetischem oder reproduktionsmedizinischem Gebiet eingebunden.

Alle beschriebenen Untersuchungen am Menschen wurden mit Zustimmung der zuständigen Ethik-Kommission, im Einklang mit nationalem Recht sowie gemäß der Deklaration von Helsinki von 1975 (in der aktuellen, überarbeiteten Fassung) durchgeführt. Von allen beteiligten Patienten liegt eine Einverständniserklärung vor.

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Hehr, A., Paulmann, B., Eichhammer, L. et al. Präimplantationsdiagnostik – methodische Aspekte. medgen 28, 332–341 (2016). https://doi.org/10.1007/s11825-016-0103-5

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Schlüsselwörter

  • PID
  • Genetische Beratung
  • Richtlinien
  • Methoden
  • Fehldiagnosen

Keywords

  • PGD
  • Genetic counseling
  • Guidelines
  • Methods
  • Misdiagnosis