Esperti ‘bocciano’ test sangue per diagnosi Sindrome DownPer Societa’ scientifiche e’ ‘troppo incerto’ (Fonte ANSA.IT)

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L’esame basato sul test del sangue materno per la diagnosi della Sindrome di Down nel feto, di recente presentato dai ricercatori del King’s College di Londra, e’ ”interessante ma ancora troppo incerto”, e pertanto ”non deve essere consigliato come screening di prima scelta, esistendo i test combinati, sperimentati, riconosciuti, diffusi e, ad oggi, ritenuti piu’ attendibili”. E’ questa la posizione unanime assunta da varie societa’ scientifiche internazionali, tra le quali la Societa’ Italiana Diagnosi Prenatale e Medicina Materna Fetale (Sidip), la Societa’ Internazionale di Diagnosi Prenatale (ISPD), l’American College of Medical Genetics and Genomics (ACMG), l’American College of Obstetricians and Gynecologists Committee on Genetics (ACOGG), il California Technology Assessment Forum (CTAF). ”Da alcuni anni gli studiosi tentano di isolare, dal sangue materno, tracce di DNA

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fetale allo scopo di rilevare l’eventuale presenza di un feto portatore di sindrome di Down – afferma Claudio Giorlandino, segretario generale Sidip -. Attualmente, tutta la letteratura internazionale e le attuali Linee Guida sono pero’ contrarie all’utilizzo di tale screening a fini clinico-diagnostici, nella popolazione generale. Si tratta infatti di test estremamente interessanti ma confinati, ancora, nell’ambito della ricerca e che presentano aspetti troppo incerti per essere traghettati nell’ambito diagnostico”. Oggi gli unici test di screening ”accreditati, ancorche’ con i limiti noti, sono quelli combinati basati sulla Translucenza nucale e sulle proteine placentari – aggiunge Giorlandino – e gli unici test diagnostici rimangono la villocentesi e l’amniocentesi, che attualmente risultano comportare un rischio di aborto pari a quello della popolazione generale che non si sottopone a questo tipo di diagnosi prenatale”. Dunque, raccomandano le societa’ scientifiche, l’impiego routinario e diagnostico dei test basati sulla ricerca del DNA fetale nel sangue materno ”non puo’ essere ancora proposto come test di prima scelta. E nel caso in cui venga richiesto, e’ doveroso fornire una informazione dettagliata ed esplicita sui suoi limiti”.FONTE ANSA .IT

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