Il NEXT (Noninvasive EXamination of Trisomy) è un esame non invasivo per la diagnosi prenatale di trisomia. Un recente studio condotto in 35 centri internazionali ha gettato nuova luce sull’utilizzo dell’analisi del DNA fetale libero circolante nel sangue materno. Comunemente conosciuto come test prenatale non invasivo, questo rappresenta una promessa per la diagnosi, rivelandosi una valida alternativa allo screening standard del primo trimestre di gravidanza.

Il feto è un mondo affascinante, protetto e segreto. All’interno del sacco amniotico una nuova vita si sviluppa, cresce, fino a quando non è pronta a vedere con i propri occhi la luce del sole. Ma è un mondo su cui non è facile indagare. La diagnosi prenatale ha proprio questo scopo, ottenere informazioni sullo status genetico di una nuova vita. Quanti cromosomi ha? Ci sono cromosomi soprannumerari? Lo screening del primo trimestre di gravidanza ha sostanzialmente lo scopo di individuare le gravidanze a rischio per alcune patologie cromosomiche. Le anomalie cromosomiche più facilmente individuabili sono le aneuploidie come le trisomie dei cromosomi 21, 18 e 13 e le aneuploidie dei cromosomi sessuali X ed Y. Lo screening standard si basa su una serie di parametri. Il primo è l’età materna. Si è visto che donne in età più avanzata hanno un maggiore rischio di avere bambini con anomalie cromosomiche. Verso la fine degli anni ’80 è stato introdotto lo screening del siero materno, che consiste nel dosare due sostanze prodotte dalla placenta e circolanti nel sangue materno (beta HCG libero e PAPP-A). La valutazione di alcuni parametri ecografici del feto, poi, consente di trovare altri indicatori precoci di rischio di patologie cromosomiche. Il più importante di tutti è la translucenza nucale (NT). Questo parametro si basa sulla misurazione dello spessore di una piccola falda liquida che si trova sotto la cute cervico-dorsale. Questo parametro deve essere misurato in feti tra la decima e la quattordicesima settimana, è quindi essenziale un’accurata datazione ecografica. Un aumento dello spessore della NT indica un rischio aumentato di cromosomopatie, cardiopatie congenite e una serie di altre sindromi genetiche o malformative. La promettente tecnica oggetto dello studio invece, si avvale del fatto che durante la gravidanza frammenti di DNA del feto circolano liberi nel plasma della mamma (cell-free DNA o cfDNA). Il DNA del feto è individuabile dalla quinta settimana ma la quantità diventa sufficiente all’analisi alla decima settimana. Lo studio sulla validità clinica di questo test è stato condotto su una popolazione prenatale non selezionata, che includeva anche donne a basso rischio. Lo scopo era confrontare lo screening prenatale non invasivo tramite analisi del DNA fetale con lo screening standard del primo trimestre. I dati emersi sono incoraggianti. Per quanto riguarda la trisomia 21, il test del cfDNA ha un’attendibilità superiore al 99%, molto vicina al 100%, secondo le statistiche migliore rispetto a quella dello screening standard. La presenza di falsi positivi è risultata 100 volte inferiore rispetto ai metodi tradizionali. Anche per le trisomie del 18 e del 13 i dati sono promettenti. Le associazioni di genetisti, ginecologi e ostetrici non hanno però tardato a sottolineare le limitazioni attuali della metodica. La ACOG (American congress of obstetricians and gyqnecologists) per esempio, ha fatto una serie di osservazioni in merito. In questo momento il test del cfDNA è un test di screening e non può sostituire il test diagnostico basato su amniocentesi e villocentesi, ma è piuttosto un indicazione a procedere con le metodiche invasive. Una fetta dei campioni di DNA non darà risultato a causa di una ridotta frazione di DNA fetale o di un segnale confuso. Approcci che combinano i vari parametri standard di screening risultano tuttora più efficaci, arrivando ad indicare un rischio per altre patologie congenite che il nuovo test non consente di vedere. I dati raccolti nello studio NEXT rimangono tuttavia incoraggianti, e confermano che l’analisi del DNA fetale è un metodo solido per lo screening della trisomia 21. Certo, lo sviluppo di una tecnica non invasiva è da sempre uno degli orizzonti della diagnosi prenatale. Attendiamo buone nuove dal mondo dei cromosomi.

Matteo Cavanna
Redazione | Nato a Belluno il 5/06/1990, ho studiato all'Università degli studi di Trento Scienze e tecnologie biomolecolari. Delle scienze biologiche mi appassiona tutto ciò che è afferente alla medicina. Microrganismi, cellule, cromosomi e geni sono il mio microcosmo. In che modo queste entità microscopiche influenzano ciò che siamo e il nostro stato di salute? Quale impatto possono avere sulla vita di tutti i giorni? Queste sono le domande che mi affascinano. Se anche tu sei curioso/a questo è il posto giusto :)

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