Nová metoda screeningu Downova syndromu v I. trimestru: One-Stop-Clinic for Assessment of Risk (OSCAR)

English version

Autoři: I. Dhaifalah ¹; L. Dusek ²; J. Santavy ¹
Působiště autorů: Department of Genetic and Fetal Medicine, University Hospital, Olomouc, Czech Republic ¹; Institut of Biostatistics and Analysis, Masaryk University, Brno, Czech Republic ²
Vyšlo v časopise: Ceska Gynekol 2011; 76(4): 292-306

Souhrn

Cíl:
Představení a zavedení nové metody screeningu Downova syndromu v I. trimestru pomocí měření nuchální translucence, přítomnosti nosní kůstky, PAPP-A (maternal serum pregnancy associated plasma protein-A) a fß-hCG (free β-human chorionic gonadotropin), v tzv. One-Stop-Clinic for Assessment of Risk (OSCAR) v České republice. Dokumentovat efektivitu metody a zavést ji jako screeningovou metodu volby. Upravit a změnit současný systém screeningu.

Metodika:
Prospektivní studie 5010 jednočetných těhotenství matek, které byly vyšetřeny na našem pracovišti prenatálního screeningu chromozomálních a vrozených vývojových vad mezi 11. a 13.+6 týdnem gestace mezi lednem 2005 a prosincem 2007. Těhotenství byla sledována do porodu a výsledek těhotenství je znám.

Závěr:
Screeningové vyšetření se rozhodlo podstoupit 100 % žen, invazivní vyšetření 95 % žen s pozitivním výsledkem screeningu. Všechny předpokládané trizomie 21 byly detekovány, spolu s dalšími chromozomálními aneuploidemi s falešnou pozitivitou 4,4 %. Studie demonstrovala proveditelnost a účinnost metody OSCAR ve screeningu chromozomálních aneuploidií ve fakultní nemocnici.¨

Zavedení vyšetřování nosní kůstky snížilo míru falešné pozitivity a zvýšilo senzitivitu. Ženy, které screening podstoupily, již neabsolvovaly biochemický screning II. trimestru (triple test).

Klíčová slova:
screening Downova syndromu v I. trimestru, One-Stop-Clinic, OSCAR, nuchální translucence, nosní kůstka.

Zdroje

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