Pınar AYDOĞAN, Nuri DANIŞMAN, Leyla MOLLAMAHMUTOĞLU, Necmiye DÖVER, Ayla ORUÇ SARGIN, Şevki ÇELEN

İkinci trimesterde saptanan fetal anöploidili fetüslerde ultrasonografik bulgular: Zekai Tahir Burak Eğitim Araştırma Hastanesi perinatoloji kliniği verileri

Amaç. Çalışmamızın amacı perinatoloji kliniği antenatal polikliniğinde izlenen hastalarda tespitedilen fetal kromozomal defektlerine eşlik eden majör yapısal anomaliler ile minör ultrasonografikbelirteçlerin insidansının belirlenmesidir. Yöntem. 2007-2010 tarihleri arasında merkezimizdeyapılan toplam 4646 prenatal karyotiplemeden 177 (%3,8) tanesinde anormal karyotip sonucurapor edilmiştir. Bu hastalardan takibini başka merkezde sürdürmek isteyen hastalar çalışmadışında bırakılmıştır. Anormal karyotip tespit edilmiş olarak kliniğimize dış merkezlerdengönderilen hastalar ile birlikte tıbbi tahliye istemi ile hastanemiz sağlık kuruluna başvuran 106hasta ultrasonografik belirteçler açısından ayrıntılı olarak tekrar değerlendirilmiştir. Bulgular.Belirlenen majör kromozomal defektler; Trizomi 21 (n=73), Trizomi 18 (n=15), Trizomi 13 (n=5)ve Turner Sendromu (n=13)dur. Trizomi 21 ve trizomi 18 izlenen fetüslerde kardiyak anomaliler,Turner Sendromlu fetüslerde ise kistik higroma en sık izlenen majör yapısal anomalidir. Trizomi13lü fetüslerde en sık izlenen yapısal anomaliler sırasıyla santral sinir sistemi, kardiyak ve yüzanomalileridir ve bu fetüslerin %40ında intrauterin gelişme geriliği (IUGG) saptanmıştır. Minörultrasonografik belirteçler değerlendirildiğinde ise artmış ense kalınlığı anöploidilerinöngörülmesinde en önemli belirteçtir. Trizomi 21 tanısı alan olguların %37sinde sonografikbelirteç tespit edilememiştir. Sonuç. Trizomi 13 ve 18 çok yüksek oranda sonografik bulgu verenanöploidilerdir. Trizomi 21 olgularının ise önemli bir kısmında sonografik belirteç tespitedilememektedir. Bu yüzden sonografik bulgular ile 1. ve 2. trimester serum biyokimyasal taramatestlerinin birlikte kullanımı yapısal kromozomal anomalilerin tespit edilebilme şansınıartıracaktır.

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

Aim. The aim of this study is to determine the incidences of major structural anomalies and minorultrasonographic markers identified during second trimester ultrasonography in aneuploidic fetusesin a perinatology clinic. Method. Between the years 2007 and 2010, a total number of 4646prenatal karyotyping were evaluated in our center. 177 of 4646 (3.8%) karyotypings were reportedas abnormal. The patients who were lost to antenatal follow up in our center were excluded. Thepatients with abnormal chromosomal karyotyping test results who refered from the other centersand the patients who applied for pregnancy termination (n=106) were analyzed for the minorultrasonographic markers at our perinatology outpatient clinic. The patients in the study groupwere reexamined by targeted second trimester obstetric sonography. Major structural anomaliesand minor ultrasonographic markers were identified. Results. The major chromosomal anomalieswe 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 structuralanomalies in fetuses with trisomy 21. In fetuses with trisomy 18, cardiac anomalies were theleading defect. Cystic hygroma was more common in Turner Syndrome. In fetuses with trisomy13, CNS, cardiac and facial anomalies incidences were higher and 40% of these fetuses hadintrauterine growth retardation (IUGR). When minor ultrasongraphic signs were evaluated, nuchalthickening was the most valuable minor marker for aneuploidy prediction. Neither major structuralanomalies nor minor ultrasonographic sings were detected in 37% of fetuses with trisomy 21.Conclusion. Major or minor sonographic findings are frequently evident in second trimestersonography in fetuses with Trisomy 13 and 18. But in a high percentage of trisomy 21 fetuses wecouldn t detect any sonographic finding. We conclude that, an integrated approach that evaluatesthe first and second trimester serum biochemical screening tests and second trimester targetedsonography will result in a higher incidence of diagnosis of fetal aneuploidies.

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