https://doi.org/10.4081/mem.1997.867
La consulenza genetica prima della diagnosi prenatale: un obbligo deontologico
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La diagnosi prenatale si è ormai imposta nella prassi medica come un esame indispensabile per accertare la presenza di più o meno gravi malformazioni embrio-fetali, e l'esistenza nel feto, o nell'embrione anche preimpianto, di condizioni genetiche a cui sono associate gravi malattie o sindromi. E' oggi chiaramente riconosciuto da documenti ufficiali che l'esecuzione della diagnosi prenatale deve essere sempre preceduta dalla consulenza genetica, e che questa ha le caratteristiche e il valore di un vero e proprio atto medico. In realtà, la consulenza pre-diagnosi serve a dare al medico l'opportunità: 1. di stabilire se esiste o meno la "indicazione" alla diagnosi prenatale; 2. di decidere sulla effettiva "fattibilità" della diagnosi prenatale; 3. di fornire alla donna e -meglio- alla coppia, in modo comprensibile, tutte le informazioni necessarie affinchè la decisione, strettamente personale, di eseguire o no la diagnosi sia pienamente "informata" e "libera"; e 4. di preparare e accompagnare i richiedenti nell'inquietante interrogativo sul dopo-risultato, e per eventuali decisioni a risultato ottenuto. Come ogni atto medico, la consulenza genetica esige preparazione, continuo aggiornamento e seria responsabilità, la quale impone attenzione a tutti gli aspetti deontologici ed etici particolarmente implicati nella diagnosi prenatale.
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