Screening modern sindrom Down
Thursday, January 12th, 2012 | 10 comentarii
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Metoda traditionala de screening pentru sindromul Down a fost varsta materna. Amniocenteza sau biopsia de trofoblast erau oferite gravidelor cu varsta de peste 35de ani , indiferent de gradul de risc de anomalie cromozomiala. Acesta metoda presupunea testarea invaziva a 15-20% din femeile gravide, cu detectia a mai putin de jumatate din fetii cu sindrom Down, deoarece majoritatea sarcinilor afectate provin din grupa de varsta mai tanara.

 

Metoda de screening pe care am introdus-o recent, bazata pe software-ul Astraia conectat la site-ul Fetal Medicine Foundation de la Londra al profesorului Nicolaides si cu analizele biochimice efectuate cu analizorul Brahms-Kryptor, mult mai eficienta, este bazata pe combinatia dintre:

 

***  varsta materna

 

***  o proba de sange matern pentru masurarea nivelului seric al celor doi produsi placentari (fractia libera a ß-hCG si PAPP-A);

 

*** o ecografie la 11-13 saptamani de sarcina in care:

 

*** se masoara colectia de lichid din regiunea posterioara a gatului fatului (translucenta nucala)

 

· se examineaza osul nazal si palatul dur fetal;
· se masoara frecventa cardiaca fetala;
· se evaluaza fluxul sangvin prin valva tricuspida a cordului fetal si in ductul venos.

 

Acesta noua metoda de screening reduce dramatic numarul de gravide care au nevoie de test invaziv, de la ~ 20% la sub 3%, si in acelasi timp creste rata de detectie a sindromului Down si a celorlalte anomalii cromozomiale de la mai putin de 50% la peste 95%.

 

Alte beneficii ale ecografiei de la 11–13 saptamani de sarcina includ:

 

· stabilirea precisa a varstei gestationale;
· diagnosticarea precoce al multora dintre anomaliile fetale majore si
· detectia sarcinilor multiple cu diagnosticarea corecta a corionicitatii, care este principalul determinant al rezultatului final in sarcinile multiple.
· o descoperire recenta este aceea ca ecografia de 11-13 saptamani poate fi folosita pentru identificarea gravidelor cu risc crescut de preeclampsie.

Ecografia de 11-13 saptamani are multe beneficii, dar este esential ca cei care realizeaza acesta examinare: sa aiba o buna cunoastere a elementelor diagnostice si a conduitei in diferitele conditii patologice identificabile prin aceasta ecografie, sa fie bine pregatiti pentru a realiza o examinare de foarte buna calitate si rezultatele lor sa fie supuse continuu unui program de control al calitatii, pe baza distributiei masuratorilor lor si a examinarii unui esantion din imaginile ecografice pe care ei le obtin.

 

 

* Bibliografie- curs profesor Nicolaides

 

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