Double testom se procjenjuje rizik da trudnica nosi plod sa određenim hromozomskim anomalijama. Od visine procijenjenog rizika zavisi i primjena daljih dijagnostičkih metoda, kao što je npr. amniocenteza. To je kombinovani test – sastoji se od ultrazvučnog pregleda nakon koga slijedi vađenje krvi. Dobijeni rezultati se obrađuju tako što im se dodaju individualni parametri kao što su godine i težina trudnice, da li je trudnoća blizanačka, da li je do nje došlo vantjelesnom oplodnjom ili prirodno, kao i da li je trudnica pušač. Poželjno je oba pregleda obaviti istog dana, ali se toleriše i zakašnjenje od 48 sati. Dabl test mjeri dva hormonska markera iz krvi majke: hCG i AFP (koji se još zove i PAPP, te se radi tokom prvog trimestra i to obično u periodu od 11. do 14. nedjelje trudnoće.
Kao rezultat Double testa dobićete procijenjenu vjerovatnoću da Vaša beba pati od Daunovog, Edvardsovog sindroma, ili ima neku drugu hromozomsku anomaliju. Rezultat će biti izražen kao, na primjer 1:3450. Ovaj rezultat bi značio da u 3450 žena koje imaju rezultate identične Vašim, samo jedna beba ima neku anomaliju. Maksimalan rezultat, kao najbolji, bio bi 1:10000. Rizik se smatra visokim ako je veći od 1:300 (npr. 1:100). Nizak rizik nije potpuna garancija da fetus nema ove hromozomske abnormalnosti.
Rizik rođenja djeteta sa Down sindromom je veći kod žena starije životne dobi ali određeni rizik je prisutan i kod mlađih žena.
Šta je Down sindrom?
Down sindrom odnosno trizomija (višak 1 hromozom) na 21. paru hromozoma je najčešći uzrok metalne retardacije kod čovjeka. Javlja se u 1:770 živorođene djece. Češći je kod trudnica koje rađaju u kasnijoj životnoj dobi (određeni rizik je prisutan i kod mlađih žena), a rizik se povećava nakon 35. godine života trudnice. Osobe sa Down sindromom imaju karakterističan izgled (glava je smanjena, a zatiljak pljosnat, oči su koso „mongoloidno“ postavljene, široko razmaknute, nos je malen, koljena su široka, usta su malena pa velik jezik često viri iz usne šupljine, šake su široke i kratke sa kratkim prstima). Otprilike 40 % djece sa Down-ovim sindromom ima urođenu srčanu manu. Život im je u prosjeku smanjen na polovinu u odnosu na zdravu populaciju, što zavisi od postojanja dodatnih bolesti vitalnih organa
Šta je Edvardov sindrom?
Edvardov sindrom najčešće nastaje zbog postojanja tri hromozoma 18 (trizomija 18) u svakoj ćeliji u tijelu, umjesto uobičajena dva. Zbog ozbiljnih medicinskih problema, ishod je često fatalan tokom prvih mjeseci života. Djeca koja žive duže obično imaju manje izražene anomalije organa, ali imaju naglašenu mentalnu zaostalost.
Konačni rezultat kombinovanog double testa se izražava kao statistički rizik pojave Down sindroma, a ne kao konačna dijagnoza. Potrebno je naglasiti da se u slučaju pozitivnog nalaza (povećanog rizika) može, a to je i najčešći slučaj, raditi o zdravom i normalnom plodu. Sa druge strane, negativan nalaz ne isključuje mogućnost pojave tog poremećaja, nego ukazuje na mali rizik za pojavu Down sindroma.
Ovaj test ne procjenjuje rizik od nastanka defekta neuralnog tubusa. Postoje drugi skrining testovi koji se rade kasnije u toku trudnoće a to su tripl i kvadripl test. Siguran način za otkrivanje Downovog sindroma kod ploda jest provođenje testova amniocenteze, CVS-a i Nifty testa. Neinvazivna metoda Nifty test možete uraditi u Plavoj Poliklinici gdje se koristi ultrazvučni aparat visoke rezolucije, a ljekari posjeduju posebnu licencu Fetal Medicine Foundation (Svjetska institucija za fetalnu medicinu) za određivanje i analizu ultrazvučnih markera u ranoj trudnoći.
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