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Yeni biny\u0131l\u0131n ba\u015f\u0131ndan beri tarama testlerini ilk \u00fc\u00e7 ayl\u0131k d\u00f6neme \u00e7ekme \u00e7al\u0131\u015fmalar\u0131 ba\u015flad\u0131. Bunun en \u00f6nemli nedeni y\u00fcksek riskli sonu\u00e7 verilen anne baba adaylar\u0131na amniyosentez karar\u0131 vermek i\u00e7in d\u00fc\u015f\u00fcnme s\u00fcresi sa\u011flamas\u0131d\u0131r.<\/p>\n

Test \u00a0s\u0131ras\u0131nda anne ve bebe\u011fin ultrasonografik bulgular\u0131, biokimyasal ve biofiziksel laboratuar test bulgular\u0131 ve annenin t\u0131bbi ve \u00a0gebelikle ilgili ge\u00e7mi\u015fine dair bulgular derlenerek kaydedilir. Elde edilen veriler bu i\u015f i\u00e7in \u00fcretilmi\u015f \u00f6zel bir yaz\u0131l\u0131m vas\u0131tas\u0131 ile de\u011ferlendirilerek akt\u00fcel gebelikte ortaya \u00e7\u0131kabilecek olumsuz geli\u015fmelere ait olas\u0131l\u0131klar(riskler) saptan\u0131r.<\/p>\n

$\"Burun$

Down sendromu taramas\u0131nda burun kemi\u011finin g\u00f6r\u00fcn\u00fcm\u00fc<\/p><\/div>\n

CRL (Ba\u015f popo mesafesi): Ultrasonografik incelemede bebe\u011fin ba\u015f-popo mesafesi (CRL) \u00f6l\u00e7\u00fclerek gebeli\u011fin b\u00fcy\u00fckl\u00fc\u011f\u00fc netle\u015ftirilir.<\/p>\n

Test, gebeli\u011fin 11-14. haftalar\u0131 aras\u0131nda yap\u0131l\u0131r. Bu d\u00f6nemde bebe\u011fin ba\u015f-popo aras\u0131ndaki uzunluk da 45-80 mm. aras\u0131nda olacakt\u0131r.<\/p>\n

NT (Ense cildi saydaml\u0131\u011f\u0131)<\/a>:<\/strong> Ense cildi saydaml\u0131\u011f\u0131 \u00f6l\u00e7\u00fcm\u00fc; NT, yani nuchal translucency ad\u0131n\u0131 al\u0131r. Ense cildi saydaml\u0131\u011f\u0131 de\u011feri, bebek b\u00fcy\u00fcd\u00fck\u00e7e artaca\u011f\u0131ndan CRL ile birlikte\u00a0de\u011ferlendirilir. NT de\u011feri artt\u0131k\u00e7a\u00a0hesaplanan Down Sendromu riski de artacakt\u0131r. Down Sendromlu bebeklerin %75’inde NT y\u00fcksektir.<\/p>\n

Ense cildi saydaml\u0131\u011f\u0131 \u00f6l\u00e7\u00fcm\u00fc, Down Sendromu riskini hesaplamada temel kriter olmakla birlikte; burun kemi\u011fi varl\u0131\u011f\u0131, mesane \u00e7ap\u0131, \u00e7ene kemi\u011fi a\u00e7\u0131s\u0131, g\u00f6bek toplar damar kanal\u0131 kan ak\u0131m\u0131 gibi \u00f6l\u00e7\u00fcmler de yol g\u00f6sterici olur.<\/p>\n

NB (Burun kemi\u011fi):<\/strong> Nazal Kemik de\u011ferlendirilmesi ;Nazal kemik (Burun kemi\u011fi); down sendromlu fetuslar\u0131n %70\u2019inde normal kromozomlu fetuslar\u0131n % 1\u2019inde g\u00f6r\u00fclmez. Ultrasonografide burun kemi\u011fi de\u011ferlendirmesinde birbirine paralel iki \u00e7izgi g\u00f6r\u00fcl\u00fcr. Bunlardan \u00fcst \u00e7izgi cilt, alt \u00e7izgi burun kemi\u011fidir. \u00dc\u00e7\u00fcnc\u00fc \u00e7izgi u\u00e7ta ve biraz yukar\u0131da olup burun u\u00e7 k\u0131sm\u0131 olmaktad\u0131r. Alt \u00e7izgi yoksa burun kemi\u011fi yok demektir ve down sendromu ku\u015fkusu ortaya \u00e7\u0131kmaktad\u0131r.<\/p>\n

Bu \u00f6l\u00e7\u00fcmler ilk kez Londra’da Kypros Nicholaides taraf\u0131ndan bulunmu\u015f ve testlerin tan\u0131m\u0131 da Fetal Medicine Foundation taraf\u0131ndan yap\u0131lm\u0131\u015f oldu\u011fundan testi yapan her doktor da FMF taraf\u0131ndan sertifikaland\u0131r\u0131l\u0131r.<\/p>\n

Serbest beta hCG:<\/strong> Normalde gebelik ilerledik\u00e7e serbest beta hCG azal\u0131r. Bebe\u011fin Down Sendromlu olmas\u0131 durumunda beta hCG normalden daha y\u00fcksek \u00e7\u0131kacakt\u0131r. Gebeli\u011fin b\u00fcy\u00fckl\u00fc\u011f\u00fcne g\u00f6re olmas\u0131 gereken beta hCG ile bulunan beta hCG’nin oran\u0131 bulunarak MoM (o haftada olmas\u0131 gerekenin ka\u00e7 kat\u0131 oldu\u011fu) de\u011feri hesaplan\u0131r. Bu MoM de\u011feri Down Sendromu riskinin ka\u00e7 kat art\u0131p azalaca\u011f\u0131n\u0131 belirler. Ya\u015fa g\u00f6re belirlenmi\u015f olan Down Sendromu riski ile bu yeni risk katsay\u0131s\u0131 \u00e7arp\u0131l\u0131p yeni risk hesaplan\u0131r.<\/p>\n

PAPP-A:<\/strong> Normalde gebelik ilerledik\u00e7e PAPP-A artar. Ancak beklenenden d\u00fc\u015f\u00fck bulunmas\u0131 durumunda Down Sendromu riki daha y\u00fcksek olarak hesaplan\u0131r. Hesaplama ayn\u0131 serbest beta hCG’de oldu\u011fu gibi MoM de\u011feri ve katsay\u0131n\u0131n bulunup \u00e7arp\u0131lmas\u0131 ile hesaplan\u0131r.<\/p>\n

Anne aday\u0131n\u0131n ya\u015f\u0131, gebeli\u011fin haftas\u0131 ve daha \u00f6nce kromozomal hastal\u0131\u011f\u0131 olan bebek do\u011furup do\u011furmad\u0131\u011f\u0131 g\u00f6z \u00f6n\u00fcnde bulundurularak trizomi 21’li bebek do\u011furma a\u00e7\u0131s\u0131ndan ne kadar risk alt\u0131nda oldu\u011fu hesaplan\u0131r. Buna bazal veya arka plan riski denir. Testte elde edilen de\u011ferler ise bu bazal risk i\u00e7in katsay\u0131lar olu\u015fturur. Bazal risk ile katsay\u0131lar\u0131n \u00e7arp\u0131m\u0131 sonucunda anne aday\u0131n\u0131n Down Sendromlu bebek do\u011furma riski hesaplanm\u0131\u015f olur.<\/p>\n

Riskin hesaplanmas\u0131nda yine FMF taraf\u0131ndan haz\u0131rlanan risk de\u011ferlendirme program\u0131 kullan\u0131l\u0131r.<\/p>\n

Testin duyarl\u0131l\u0131\u011f\u0131, farkl\u0131 yay\u0131nlarda farkl\u0131 bulunmu\u015ftur. Y\u00fcz tane anne aday\u0131 i\u00e7inde bu testte en y\u00fcksek risk saptanm\u0131\u015f olan 5 tanesine amniyosentez uyguland\u0131\u011f\u0131 taktirde Down Sendromlu gebelerin %80-90’\u0131na tan\u0131 konmu\u015f olur.<\/p>\n

Testi yapt\u0131rd\u0131n\u0131z ve sonu\u00e7lar\u0131 doktorunuzla g\u00f6r\u00fc\u015ft\u00fcn\u00fcz. Test sonucunu Down Sendromu i\u00e7in y\u00fcksek veya d\u00fc\u015f\u00fck risk olarak ikiye ay\u0131rmak gerekir. Y\u00fcksek risk saptanmas\u0131, bebe\u011finizin Down Sendromunun oldu\u011funu g\u00f6stermez. Yaln\u0131zca amniyosentez ile kromozom durumunun kesinle\u015ftirilmesini gerekli k\u0131lar.<\/p>\n