{"id":9065,"date":"2017-10-31T08:52:41","date_gmt":"2017-10-31T06:52:41","guid":{"rendered":"https:\/\/gynaikologos-komotini.gr\/hamile\/ayxenikh-diafaneia\/"},"modified":"2023-05-02T14:20:32","modified_gmt":"2023-05-02T12:20:32","slug":"fetal-ense-saydamligi","status":"publish","type":"page","link":"https:\/\/gynaikologos-komotini-old.xo-websites4.gr\/tr\/hamile\/fetal-ense-saydamligi\/","title":{"rendered":"Fetal ense saydaml\u0131\u011f\u0131"},"content":{"rendered":"

\u0388\u03bb\u03b5\u03b3\u03c7\u03bf\u03c2 \u03c7\u03c1\u03c9\u03bc\u03bf\u03c3\u03c9\u03bc\u03b9\u03ba\u03ce\u03bd \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03b9\u03ce\u03bd \u03c4\u03bf\u03c5 \u03b5\u03bc\u03b2\u03c1\u03cd\u03bf\u03c5 – \u0391\u03c5\u03c7\u03b5\u03bd\u03b9\u03ba\u03ae \u0394\u03b9\u03b1\u03c6\u03ac\u03bd\u03b5\u03b9\u03b1<\/h2>\n

\u0388\u03bb\u03b5\u03b3\u03c7\u03bf\u03c2 \u03c7\u03c1\u03c9\u03bc\u03bf\u03c3\u03c9\u03bc\u03b9\u03ba\u03ce\u03bd \u03b1\u03bd\u03c9\u03bc\u03b1\u03bb\u03b9\u03ce\u03bd \u03c4\u03bf\u03c5 \u03b5\u03bc\u03b2\u03c1\u03cd\u03bf\u03c5 – \u0391\u03c5\u03c7\u03b5\u03bd\u03b9\u03ba\u03ae \u0394\u03b9\u03b1\u03c6\u03ac\u03bd\u03b5\u03b9\u03b1<\/h3>\n

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\"b-epipedou\"<\/div><\/div>\n

 <\/p>\n

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Gebelikte kromozom anomalileri neden kontrol edilmelidir?<\/strong><\/h4>\n

Kromozom anomalileri, \u00e7ocukluk d\u00f6neminde perinatal mortalite ve sakatl\u0131\u011f\u0131n \u00f6nde gelen nedenidir. Bunlar\u0131 te\u015fhis etmenin tek yolu, fet\u00fcs\u00fcn trofoblastik dokusunu (biyopsi) veya amniyotik s\u0131v\u0131s\u0131n\u0131 (amniyosentez) alarak kromozomlar\u0131n say\u0131s\u0131n\u0131 ve yap\u0131s\u0131n\u0131 (karyotip) \u00a0kontrol etmektir. Bununla birlikte, her iki y\u00f6ntem de invaziv oldu\u011fundan ve k\u00fc\u00e7\u00fck bir d\u00fc\u015f\u00fck yapma riski (% 1) i\u00e7erdi\u011finden, yaln\u0131zca y\u00fcksek risk alt\u0131ndaki kad\u0131nlara uygulan\u0131r.<\/p>\n

70’lerde, bu riskin kontrol edilmesi yaln\u0131zca annenin ya\u015f\u0131na dayan\u0131yordu. 80’lerde anne ya\u015f\u0131, biyokimyasal belirte\u00e7ler ve 2. trimesterde fet\u00fcs\u00fcn ayr\u0131nt\u0131l\u0131 ultrason kontrol\u00fc kullan\u0131ld\u0131. 90’larda, kromozom anomalileri olan embriyolar\u0131n \u00e7o\u011funun, ense kal\u0131nl\u0131klar\u0131 \u00f6l\u00e7\u00fcm\u00fcyle (ense saydaml\u0131\u011f\u0131) ve annenin kan\u0131nda yeni biyokimyasal belirte\u00e7lerin (\u03b2-HCG, PAPP-A)\u00a0 \u00f6l\u00e7\u00fclmesiyle tespit edilebildi\u011fi g\u00f6zlendi\u011finde, tarama gebeli\u011fin ilk trimesterine y\u00f6nlendirildi. Son 10 y\u0131lda, kromozom anomalileri olan fet\u00fcslerin saptanma oran\u0131n\u0131 art\u0131ran ve yanl\u0131\u015f pozitif sonu\u00e7lar\u0131 azaltan, b\u00f6ylece gereksiz yere invaziv bir metoda tabi tutulacak hamile kad\u0131n say\u0131s\u0131n\u0131 azaltan ek ultrason belirte\u00e7leri tan\u0131mlanm\u0131\u015ft\u0131r.<\/div><\/div>\n

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Anne ya\u015f\u0131na g\u00f6re tarama<\/strong><\/h4>\n

Anne ya\u015f\u0131 artt\u0131k\u00e7a kromozom anomalisi riskinin artt\u0131\u011f\u0131 bilinmektedir.
\nKromozom anomalisi olan fet\u00fcslerin rahimde \u00f6lme riski normal fet\u00fcslere g\u00f6re daha fazla oldu\u011fundan, gebelik ilerledik\u00e7e anomalilerin ortaya \u00e7\u0131kma riskleri azal\u0131r. Ancak, 70’li y\u0131llarda 35 ya\u015f \u00fcst\u00fc kad\u0131nlar n\u00fcfusun %5’ini olu\u015fturuyordu ve bu grup kromozom hasarl\u0131 fet\u00fcslerin %30’unu bar\u0131nd\u0131r\u0131yordu. G\u00fcn\u00fcm\u00fczde, hamile kad\u0131nlar\u0131n %20’si 35 ya\u015f \u00fcst\u00fcd\u00fcr ve bu grupta da kromozom hasarlar\u0131n\u0131n %50’si saptanmaktad\u0131r. Bu nedenle, yaln\u0131zca anne ya\u015f\u0131na g\u00f6re y\u00fcksek riskli gebelerin se\u00e7ilmesi politikas\u0131 yanl\u0131\u015ft\u0131r, \u00e7\u00fcnk\u00fc anormal fet\u00fcslerin \u00e7o\u011fu (%35) invaziv bir test i\u00e7in s\u0131n\u0131r olan 35 ya\u015f\u0131n alt\u0131ndaki kad\u0131nlardayd\u0131.<\/div>\n

<\/div>\n\"elegxos-ilikia-miteras\"<\/div><\/div>\n
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<\/div>\n\"parakolouthisi-glikozis-sto-aima\"<\/div>\n
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Maternal biyokimyasal belirte\u00e7lere dayal\u0131 tarama<\/strong><\/h4>\n

Kromozom anomalileri olan gebeliklerde, \u00e7e\u015fitli feto-plasental \u00fcr\u00fcnlerin konsantrasyonlar\u0131n\u0131n normal fet\u00fcslerin gebeliklerine g\u00f6re farkl\u0131 oldu\u011fu g\u00f6sterilmi\u015ftir. Bu \u00fcr\u00fcnlerin ikinci trimesterde maternal biyokimyasal belirte\u00e7ler olarak \u00f6l\u00e7\u00fclmesi, kromozom bozuklu\u011fu olan fet\u00fcsleri tespit etme hassasiyetini yaln\u0131zca ya\u015f kullan\u0131ld\u0131\u011f\u0131nda olan %35’ten, AFP ve \u03b2-HCG (\u00e7ift test) kullan\u0131ld\u0131\u011f\u0131nda %60-65’e, uE3 de (\u00fc\u00e7l\u00fc test)\u00a0 kullan\u0131ld\u0131\u011f\u0131nda \u00a0%65-70’e ve inhibin A (d\u00f6rtl\u00fc test) kullan\u0131ld\u0131\u011f\u0131nda %70-75 \u00e7\u0131kar\u0131r.<\/div><\/div>\n

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\"198508-NB_NORMAL\"<\/a><\/p>\n

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Ancak, son on y\u0131lda ultrason belirte\u00e7lerini de entegre etme \u00e7abas\u0131yla biyokimyasal belirte\u00e7ler 1. trimesterde \u00f6l\u00e7\u00fclmeye ba\u015fland\u0131. \u00d6zellikle, trizomi 21’li fet\u00fcslerde beta HCG’nin normalin iki kat\u0131 konsantrasyona sahip oldu\u011fu, PAPP-A’n\u0131n ise trizomi 21’li fet\u00fcslerde normal olanlara g\u00f6re yar\u0131 yar\u0131ya oldu\u011fu g\u00f6r\u00fclm\u00fc\u015ft\u00fcr. Yukar\u0131daki g\u00f6stergelerin dahil edilmesi, anormal kromozomlu fet\u00fcsleri tespit etme hassasiyetini ya\u015fa dayal\u0131 olan %30’dan %60-65’e \u00e7\u0131kar\u0131r. Son y\u0131llarda, kromozom anomalisi olan fet\u00fcslerde daha d\u00fc\u015f\u00fck olan PLGF ve AFP gibi yeni t\u00fcrevler dahil edilmi\u015ftir. Yeni g\u00f6stergeler hassasiyeti %80’e \u00e7\u0131kar\u0131yor.<\/p>\n

\"198508-NB_NORMAL\"<\/a><\/div>\n

Ense saydaml\u0131\u011f\u0131 kontrol\u00fc<\/strong><\/h4>\n

1866’da Langdon Down, trizomi 21’li bireylerin derisinin normal bireylerden daha kal\u0131n oldu\u011funu g\u00f6zlemledi. 1992’de Profes\u00f6r K. Nicolaidis, bu kal\u0131nla\u015fman\u0131n gebeli\u011fin 3. ay\u0131nda ultrason g\u00f6r\u00fcnt\u00fcs\u00fcnde fet\u00fcs\u00fcn boynunda s\u0131v\u0131 birikmesi olarak g\u00f6zlenebilece\u011fini ke\u015ffetti ve buna ense saydaml\u0131\u011f\u0131 ad\u0131 verildi. Son 20 y\u0131lda yap\u0131lan kapsaml\u0131 \u00e7al\u0131\u015fmalar, artan ense saydaml\u0131\u011f\u0131n\u0131n do\u011frudan kromozom anomalileri, kalp kusurlar\u0131 ve fet\u00fcs\u00fcn baz\u0131 genetik sendromlar\u0131 ile ili\u015fkili oldu\u011funu g\u00f6stermi\u015ftir. Bu nedenle art\u0131k 11. ve 14. haftalar aras\u0131ndaki t\u00fcm gebeliklerde \u00f6l\u00e7\u00fcm\u00fc, g\u00fcvenilir olmas\u0131 i\u00e7in \u00f6l\u00e7\u00fcm\u00fcn\u00fc y\u00f6neten belirli standartlara g\u00f6re uygulanmaktad\u0131r.<\/div>\n

Son iki y\u0131lda, yukar\u0131daki kombinasyona, bilinen burun kemi\u011fine ek olarak, duktus venosus’un ak\u0131\u015f\u0131na kar\u015f\u0131 artan diren\u00e7 ve fetal kalbin trik\u00fcspit kapa\u011f\u0131n\u0131n yetersizli\u011fi gibi yeni ultrason belirte\u00e7leri eklenmi\u015ftir. Trizomi 21’li fet\u00fcslerde burun kemi\u011fi yoklu\u011fu veya duktus venozusta patolojik ak\u0131m (a-dalga inversiyonu) ve kalbin trik\u00fcspit kapa\u011f\u0131nda yetmezlik s\u0131ras\u0131yla %60, %65, %55 oran\u0131nda g\u00f6r\u00fcld\u00fc\u011f\u00fc bilinmektedir. Normal fet\u00fcslerde ise %2,5,3 ve %1 oranlar\u0131ndad\u0131r.<\/p>\n

\"198507-NB_ABNORMAL\"<\/a><\/div><\/div>\n

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Kromozom anomali tarama ultrasonu neleri i\u00e7erecek ve ne zaman yap\u0131lacak?<\/strong><\/h4>\n

Yukar\u0131daki g\u00f6zlemler g\u00f6z \u00f6n\u00fcne al\u0131nd\u0131\u011f\u0131nda, kromozom anomalilerini taramas\u0131 i\u00e7in her kad\u0131na \u00f6nerilen birle\u015fik model a\u015fa\u011f\u0131daki gibidir:<\/p>\n

Gebeli\u011fin 11-14. haftalar\u0131 aras\u0131ndaki d\u00f6nemde fet\u00fcs, sertifikal\u0131 bir FMF doktoru taraf\u0131ndan ultrason muayenesinden ge\u00e7irilmelidir; burada:<\/p>\n