Miğraci TOSUN, Burcu TORUMTAY, Devan BILDIRCIN, Handan ÇELİK, Mehmet B. ÇETİNKAYA, Erdal MALATYALIOĞLU

Orofasiyal yarıkların prenatal tanı ve değerlendirilmesi

Amaç: Yarık dudak/damak tespit edilen fetusların değerlendirilmesi. Gereç ve Yöntemler: Ondokuz Mayıs Üniversitesi Tıp Fakültesi Kadın Hastalıkları ve Doğum Anabilim Dalı Polikliniği'nde Ocak 2007 - Aralık 2008 tarihleri arasında yarık dudak/damak tespit edilen fetuslar incelendi. Bulgular: Toplam sekiz fetus değerlendirildi. Risk faktörü olarak sadece bir olguda sigara vardı. Dört olguda unilateral yarık dudak/damak, üç olguda bilateral yarık dudak/damak, bir olguda ise median yarık dudak/damak tespit edildi. Karyotip analizini kabul eden dört olgudan ikisinde normal karyotip, üçüncüsünde 46,XY,der(15)t(10;15)(q22.2;q11.2)pat karyotip mevcuttu. Dördüncü olguda karyotip 46,XY olmasına rağmen ultrasonografide kız fenotip tespit edildi. Ek anomali olarak tek umblikal arter, serebellar vermis agenezisi, ventrikülomegali ve kalpte Fallot Tetralojisi belirlendi. Sonuç: Yarık dudak/damak tespit edilen olgulara karyotip tayini, fetal ekokardiografi ve ek anomalilerin araştırılması amacıyla ayrıntılı ultrasonografi yapılmalıdır.

Prenatal diagnosis and management of orofacial clefts

Objective: To evaluate the fetuses in which cleft lips/palates were detected. Materials and Methods: The fetuses in which cleft lip/palate detected in Ondokuz Mayis University, Medical Faculty, Obstetrics and Gynecology Policlinics, between January and- December 2008, were examined. Results: A total of eight fetuses were evaluated. There was smoking in only one case as a risk factor. Unilateral cleft lip/palate in four, bilateral cleft lip/palate in three and median cleft lip/palate in one case were detected, respectively. Of four patients who accepted to have karyotype analysis, two had normal karyotype and the other had 46,XY,der(15)t(10;15)(q22.2;q11.2) pat karyotype. The fourth patient had 46,XY karyotype although female phenotype was depicted by ultrasonography. Single umblical cord, agenesis of cerebellar vermis, ventriculomegali and Fallot Tetrology were identified as additional anomalies. Conclusion: Karyotype analysis, fetal echocardiography and detailed ultrasonography to investigate additional anomalies should be performed in cases in which cleft lip/palate were detected.

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