Ba\u015fta \u00fc\u00e7l\u00fc, sonra ikili ve d\u00f6rtl\u00fc tarama testleri ile ba\u015flayan Down Sendromu tarama maceras\u0131na 2010 y\u0131l\u0131ndan itibaren yepyeni bir test grubu kat\u0131ld\u0131. \u0130kili, \u00fc\u00e7l\u00fc, d\u00f6rtl\u00fc tarama testleri anne aday\u0131n\u0131n kan\u0131nda baz\u0131 hormonlar\u0131n d\u00fczeylerinin biyokimyasal yollarla saptanmas\u0131 ve normale g\u00f6re ne kadar farkl\u0131 oldu\u011funun saptanmas\u0131na dayan\u0131yordu. NIPT<\/strong>, anne aday\u0131n\u0131n kan dola\u015f\u0131m\u0131nda serbest\u00e7e dola\u015fan DNA par\u00e7alar\u0131n\u0131n incelenmesi ile ortaya \u00e7\u0131kt\u0131. NIPT, Non \u0130nvaziv Prenatal Test<\/strong> s\u00f6z\u00fcn\u00fcn k\u0131salt\u0131lm\u0131\u015f\u0131d\u0131r. Non invaziv<\/em>, giri\u015fimsel olmayan demektir. Amniyosentez veya koryon villus biyopsisi gibi anne karn\u0131na i\u011fne bat\u0131r\u0131l\u0131p bebek h\u00fccrelerinin al\u0131nmas\u0131 invaziv yani giri\u015fimsel i\u015flemlerdir.\u00a0Prenatal<\/em>, do\u011fumdan \u00f6nce demektir. Yani bebek hen\u00fcz anne karn\u0131nda iken uygulan\u0131r. T\u00fcrk\u00e7e olarak\u00a0giri\u015fimsel olmayan do\u011fum \u00f6ncesi test<\/strong><\/em> denilebilir.<\/em>\u00a0NIPT yerine cffDNA<\/strong> s\u00f6z\u00fc de kullan\u0131lmaktad\u0131r. Bu da\u00a0cell free fetal DNA<\/strong>‘n\u0131n k\u0131salt\u0131lm\u0131\u015f\u0131d\u0131r. Cell<\/em>, h\u00fccre anlam\u0131na gelir.\u00a0Free,\u00a0<\/em>serbest demektir. Cell free, h\u00fccreden \u00e7\u0131km\u0131\u015f, yani serbest\u00e7e dola\u015fan anlam\u0131nda kullan\u0131l\u0131r.\u00a0Fetal<\/em>, bebe\u011fe ait anlam\u0131ndad\u0131r. T\u00fcrk\u00e7e olarak\u00a0h\u00fccreden \u00e7\u0131km\u0131\u015f bebek DNAs\u0131\u00a0<\/em><\/strong>denilebilir.<\/p><\/blockquote>\n

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  Tarama Testleri<\/strong><\/h3>\n

  Hastal\u0131\u011f\u0131n bebe\u011finizde bulunma olas\u0131l\u0131\u011f\u0131n\u0131 hesaplar. Y\u00fcksek veya d\u00fc\u015f\u00fck risk oldu\u011funu belirler.<\/p>\n

  \n
  • \u0130kili tarama testi<\/li>\n
  • \u00dc\u00e7l\u00fc Tarama testi<\/li>\n
  • D\u00f6rtl\u00fc tarama testi<\/li>\n
  • Noninvaziv prenatal test<\/li>\n<\/ul>\n<\/li>\n
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    Tan\u0131 Testleri<\/strong><\/h3>\n

    Hastal\u0131\u011f\u0131n bebe\u011finizde bulunup bulunmad\u0131\u011f\u0131n\u0131 g\u00f6sterir.<\/p>\n

    \n
    • Amniyosentez (AS)<\/li>\n
    • Plasenta biyopsisi (CVS)<\/li>\n<\/ul>\n<\/li><\/ul>\n

      Ba\u015fta Down sendromu olmak \u00fczere baz\u0131 kromozom ve baz\u0131 gen hastal\u0131klar\u0131n\u0131n do\u011fum \u00f6ncesinde taramas\u0131n\u0131n yap\u0131lmas\u0131 i\u00e7in kullan\u0131lan testlerden biri de noninvaziv prenatal testlerdir (NIPT). \u0130kili, \u00fc\u00e7l\u00fc, d\u00f6rtl\u00fc tarama testleri gibi biyokimyasal testlere k\u0131yasla ba\u015far\u0131 oran\u0131 \u00e7ok y\u00fcksek olan testlerdir. Ancak yine de NIPT, tan\u0131 de\u011fil, tarama testidir. Di\u011fer bir deyi\u015fle NIPT, amniyosentez ya da koriyon villus biyopsisinin alternatifi de\u011fildir. cfDNA analizi Down Sendromu i\u00e7in y\u00fcksek risk varl\u0131\u011f\u0131n\u0131 g\u00f6steriyorsa\u00a0amniyosentez gibi tan\u0131 testleri uygulanarak sonu\u00e7 kesinle\u015ftirilir.<\/p>\n<\/span>\n

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