Çelen, Şevki Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi - Perinatoloji Kliniği, Turkey , Oruç, Ayla Sargın Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi - Perinatoloji Kliniği, Turkey , Döver, Necmiye İnebolu Devlet Hastanesi - Kadın Hastalıkları ve Doğum Kliniği, Turkey , Aydoğan, Pınar Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi - Perinatoloji Kliniği, Turkey , Mollamahmutoğlu, Leyla Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi - Perinatoloji Kliniği, Turkey , Danışman, Nuri Dr. Zekai Tahir Burak Women s Health Education and Research Hospital - Perinatology Clinic, Turkey

Second Trimester Ultrasonographic Findings in Aneuploidic Fetuses:Zekai Tahir Burak Women’s Health Education and Research Hospital Perinatology Clinic Experiences

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Aim. The aim of this study is to determine the incidences of major structural anomalies and minor ultrasonographic markers identified during second trimester ultrasonography in aneuploidic fetuses in a perinatology clinic. Method. Between the years 2007 and 2010, a total number of 4646 prenatal karyotyping were evaluated in our center. 177 of 4646 (3.8%) karyotypings were reported as abnormal. The patients who were lost to antenatal follow up in our center were excluded. The patients with abnormal chromosomal karyotyping test results who refered from the other centers and the patients who applied for pregnancy termination (n=106) were analyzed for the minor ultrasonographic markers at our perinatology outpatient clinic. The patients in the study group were reexamined by targeted second trimester obstetric sonography. Major structural anomalies and minor ultrasonographic markers were identified. Results. The major chromosomal anomalies we detected were; trisomy 21 (n=73), trisomy 18 (n=15), trisomy 13 (n=5) and Turner Syndrome (n=13). Central nervous system (CNS) anomalies were the most common major structural anomalies in fetuses with trisomy 21. In fetuses with trisomy 18, cardiac anomalies were the leading defect. Cystic hygroma was more common in Turner Syndrome. In fetuses with trisomy 13, CNS, cardiac and facial anomalies’ incidences were higher and 40% of these fetuses had intrauterine growth retardation (IUGR). When minor ultrasongraphic signs were evaluated, nuchal thickening was the most valuable minor marker for aneuploidy prediction. Neither major structural anomalies nor minor ultrasonographic sings were detected in 37% of fetuses with trisomy 21. Conclusion. Major or minor sonographic findings are frequently evident in second trimester sonography in fetuses with Trisomy 13 and 18. But in a high percentage of trisomy 21 fetuses we couldn’t detect any sonographic finding. We conclude that, an integrated approach that evaluates the first and second trimester serum biochemical screening tests and second trimester targeted sonography will result in a higher incidence of diagnosis of fetal aneuploidies.

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Aneuploidy , ultrasonography , amniosynthesis

Cumhuriyet Medical Journal

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