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{"id":806,"date":"2014-08-09T09:46:55","date_gmt":"2014-08-09T06:46:55","guid":{"rendered":"http:\/\/izmirkarsiyakakadindogummerkezi.com\/artmis-nukal-translusensi-ve-normal-karyotip\/"},"modified":"2014-08-09T09:46:55","modified_gmt":"2014-08-09T06:46:55","slug":"artmis-nukal-translusensi-ve-normal-karyotip","status":"publish","type":"post","link":"https:\/\/izmirkarsiyakakadindogummerkezi.com\/artmis-nukal-translusensi-ve-normal-karyotip\/","title":{"rendered":"Artm\u0131\u015f Nukal Translusensi ve Normal Karyotip"},"content":{"rendered":"
NT kal\u0131nl\u0131\u011f\u0131n\u0131n artmas\u0131 trizomi 21 ve di\u011fer kromozomal defektlerin en yayg\u0131n fenotipik bulgusudur. Ayn\u0131 zamanda bebek \u00f6l\u00fcm\u00fc, pek \u00e7ok farkl\u0131 malformasyon, deformasyon ve disgenezi veya genetik sendrom ile de ilgili olabilir. Bu b\u00f6l\u00fcmde NT\u2019nin artm\u0131\u015f olmas\u0131 nedeni ile karyotipleme yap\u0131l\u0131p, kromozomal olarak normal oldu\u011fu saptanan fetuslar\u0131n akibetleri irdelenecektir.<\/p>\n
Bu bilgiler \u0131\u015f\u0131\u011f\u0131nda her NT gurubu i\u00e7in, intrauterin ya\u015fama \u015fans\u0131 ve major bir anomalisi olmayan bebe\u011fe sahip olabilme olas\u0131l\u0131\u011f\u0131 hesaplanabilir. Bu da, ebeveynlerin NT\u2019nin artt\u0131\u011f\u0131 durumlarda bilgilendirilmesinde ve uygun takip plan\u0131n\u0131n belirlenmesinde ciddi fayda sa\u011flar.<\/p>\n
Normal fetuslarda NT kal\u0131nl\u0131\u011f\u0131 CRL\u2019e paralel olarak artar. Median ve 95. persantil NT de\u011ferleri s\u0131ras\u0131yla, CRL \u00f6l\u00e7\u00fcm\u00fc 45 mm olan fetus i\u00e7in 1.2 ve 2.1, CRL\u2019i 84 mm olan fetus i\u00e7in ise 1.9 ve 2.7 mm dir (Snijder ve ark 1998). Ancak 99. persantil de\u011feri CRL ile \u00e7ok fazla de\u011fi\u015fmez ve yakla\u015f\u0131k 3.5 mm dir. Artm\u0131\u015f NT tan\u0131m\u0131, 95. persantilin \u00fczerindeki de\u011ferler i\u00e7in kullan\u0131r. Biriken s\u0131v\u0131n\u0131n septal\u0131 olup olmamas\u0131, sadece boyun b\u00f6lgesinde ya da t\u00fcm vucudu kaplayacak \u015fekilde g\u00f6r\u00fcn\u00fcm\u00fc tan\u0131m\u0131 de\u011f\u015ftirmez. Artm\u0131\u015f NT 14. haftadan sonra genellikle kaybolur fakat baz\u0131 olgularda ense \u00f6demi veya kistik higroma \u015feklinde devam edebilir.<\/p>\n
Artm\u0131\u015f NT olan fetuslerde g\u00f6r\u00fclebilen durumlar<\/p><\/div>\n
NT kal\u0131nl\u0131\u011f\u0131 ile kromozmal defekt, fetal kay\u0131p ve major fetal anomali prevelans\u0131 aras\u0131ndaki ili\u015fki tablo 1\u2019de g\u00f6sterilmi\u015ftir (Souka ve ark 2004).<\/p>\n
Kromozomal Defektler<\/h2>\n
Kromozomal defekt prevelans\u0131 NT kal\u0131nl\u0131\u011f\u0131na parallel olarak belirgin \u015fekilde artar (Tablo 1; Snijders ve ark 1988). Kromozomal olarak anormal gurubun;<\/p>\n
Kromozomal olarak normal olan fetuslarda fetal \u00f6l\u00fcm NT\u2019nin kal\u0131nla\u015fmas\u0131 ile belirgin \u015fekilde artar. Baz\u0131 olgularda NT art\u0131\u015f\u0131ndan ciddi hidropsa ilerleme g\u00f6r\u00fcl\u00fcr ve \u00e7o\u011fu 20. hafta civar\u0131nda intrauterin kaybedilirler.<\/p>\n
Fetal Anomaliler<\/h2>\n
Medikal ve\/veya cerrahi tedavi gerektiren ya da mental gerili\u011fe yol a\u00e7an anomali, major fetal anomali olarak tan\u0131mlan\u0131r. Fetal NT\u2019nin artt\u0131\u011f\u0131 olgularda, major fetal anomali prevelas\u0131n\u0131n da artt\u0131\u011f\u0131 pek \u00e7ok \u00e7al\u0131\u015fman\u0131n ortak sonucudur.<\/p>\n
Kromozom analiz sonucu normal olan, NT kal\u0131nl\u0131\u011f\u0131 ise artm\u0131\u015f bulunan, toplam 6.153 olguyu i\u00e7eren, 28 \u00e7al\u0131\u015fmada, major anomali prevelans\u0131 %7.3 olarak bulundu (Souka ve ark 2004). Ancak, incelen \u00e7al\u0131\u015fmalarda anormal NT olarak kabul edilen minimum NT kal\u0131nl\u0131\u011f\u0131 2\u20135 mm aras\u0131nda oldu\u011fu i\u00e7in, major anomali prevelanslar\u0131nda da %3 ile %50 aras\u0131nda de\u011fi\u015fen b\u00fcy\u00fck farkl\u0131l\u0131klar vard\u0131.<\/p>\n
Kromozom analiz sonucu normal olan fetuslardaki major fetal anomali prevelans\u0131 NT kal\u0131nl\u0131\u011f\u0131 ile artar.<\/p>\n
Geli\u015fme Gerili\u011fi<\/h2>\n
Kromozomal ve anotomik olarak normal olup, NT\u2019si artm\u0131\u015f olan fetuslar\u0131 do\u011fum sonras\u0131 uzun s\u00fcre izleyen \u00e7al\u0131\u015fmalara g\u00f6re, geli\u015fme gerili\u011finin prevelans\u0131 %2 ila %4 aras\u0131ndad\u0131r (Souka ve ark 2004). Ancak, \u00e7al\u0131\u015fmalardan sadece bir tanesinde kontrol grubu ile k\u0131yaslama yap\u0131ld\u0131\u011f\u0131 i\u00e7in, bu bulgular\u0131n anlaml\u0131l\u0131\u011f\u0131n\u0131 tam olarak de\u011ferlendirmek zordur.<\/p>\n
Brady ve ark (1998), fetal d\u00f6nemde NT\u2019si 3.5 mm ve \u00fczerinde olan 89 \u00e7ocuk ile NT\u2019si 3.5 mm\u2019nin alt\u0131nda olan 302 \u00e7ocu\u011fu klinik olarak takip ettiler. Bu \u00e7al\u0131\u015fmada, her iki gruptan birer \u00e7ocu\u011fun belirlenen geli\u015fim a\u015famalar\u0131ndan daha geri kald\u0131\u011f\u0131 saptand\u0131.<\/p>\n
Artm\u0131\u015f Nukal Translusensi \u0130le Birlikte Olan Anomaliler<\/h1>\n
NT art\u0131\u015f\u0131 \u015feklinde belirti veren sendromlar<\/p><\/div>\n
Anensefali, holoprozensefali, gastro\u015fizis, renal anomaliler ve spina bifida gibi baz\u0131 anomalilerin g\u00f6zlenen prevelanslar\u0131, toplumun genel prevelans\u0131ndan farkl\u0131 olmayabilir. Ancak, major kardiak anomali, diafragmatik herni, eksomfalos, \u201cbody stalk\u201d anomalisi, iskelet anomalisi ve konjenital adrenal hiperplazi, fetal akinezi deformasyon silsilesi, Noonan sendromu, Smith-Lemli-Optiz sendromu ve spinal musk\u00fcler atrofi gibi baz\u0131 genetik sendromlar\u0131n prevelans\u0131 ise genel toplumdakinden daha y\u00fcksektir. \u0130\u015fte bu nedenle artm\u0131\u015f NT ile bu tip anormaliler aras\u0131nda ger\u00e7ek bir ilgi olabilir.<\/p>\n","protected":false},"excerpt":{"rendered":"
NT kal\u0131nl\u0131\u011f\u0131n\u0131n artmas\u0131 trizomi 21 ve di\u011fer kromozomal defektlerin en yayg\u0131n fenotipik bulgusudur. Ayn\u0131 zamanda bebek \u00f6l\u00fcm\u00fc, pek \u00e7ok farkl\u0131 malformasyon, deformasyon ve disgenezi veya genetik sendrom ile de ilgili olabilir. Bu b\u00f6l\u00fcmde NT\u2019nin artm\u0131\u015f olmas\u0131 nedeni ile karyotipleme yap\u0131l\u0131p, kromozomal olarak normal oldu\u011fu saptanan fetuslar\u0131n akibetleri irdelenecektir. Bu bilgiler \u0131\u015f\u0131\u011f\u0131nda her NT gurubu i\u00e7in, […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[32],"tags":[],"yoast_head":"\n
Artm\u0131\u015f Nukal Translusensi ve Normal Karyotip - \u0130zmir Kar\u015f\u0131yaka Kad\u0131n Do\u011fum Merkezi<\/title>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\t\n\t\n\t\n