Konjenital Üriner Sistem Anomalileri: Prenatal Tanı/ Postnatal Sonuç

Amaç: Fetal üriner sistem anomalilerinin anöploidi ve ek yapısal malformasyonlarla ilişkisini ortaya koymak, prenatal dönemde konan ön tanıları postnatal dönem sonuçları ile karşılaştırmaktır. Yöntemler: 2016-2019 yılları arasında kliniğimizde fetal üriner sistem anomalisi tanısı alan 282 olgu çalışma kapsamında değerlendirildi. Gebeliklere ait yaş, gebelik haftası, gravida, parite, fetal cinsiyet, anomalinin tipi, ek anomali varlığı, prenatal tanı yöntemi, fetal karyotip sonucu, terminasyon durumu ve postnatal sonuçlar kayıt edildi. Bulgular: Fetal üriner sistem anomalileri arasında ilk sırada hidronefroz (HN) yer almaktaydı. Üriner sistem anomalilerine eşlik eden konjenital malformasyonlar incelendiğinde %26,4 ile santral sinir sistemi anomalileri en sık gruptu. Ek anomaliler ile en sık birliktelik gösteren üriner sistem anomalileri; bilateral renal agenezi (%50), bilateral multikistik displastik böbrek (%50) ve ekstrofia vezikaydı (%50). Karyotip sonuçlarına bakıldığında olguların %26’sında trizomi, %4’ünde PKHD1 ve %2’sinde triploidi izlendi. Karyotip sonucuna göre normal karyotipli grup ve trizomili grup karşılaştırıldığında, ek anomalilerin varlığı (p=0,004), bilateral HN (p=0,012) ve terminasyon sonuçları (p=0,002) arasındaki fark istatistiksel olarak anlamlı bulundu. Konsey kararı ile %6,7 olguya terminasyon uygulandı. Postnatal dönemde pediatrik cerrahi kliniğinde/polikliniğinde takip edilebilen olguların oranı %34,6 olup, bu olguların %38,2’sine cerrahi girişim uygulandı. Sonuç: Geniş bir klinik spektruma sahip olan üriner sistem anomalilerinin multidisipliner bir yaklaşım ile gerek prenatal dönemde gerekse postnatal dönemde uygun tanı, takip ve tedavisi büyük önem taşımaktadır.

Congenital Urinary System Anomalies: Prenatal Diagnosis/Postnatal Outcome

Objective: To evaluate the relationship of fetal urinary system anomalies with aneuploidy and additional structural malformations, to compare the preliminary diagnoses made in the prenatal period with the results of the postnatal period. Methods: Two hundred eighty-two cases diagnosed as fetal urinary system anomaly in our clinic between 2016-2019 were evaluated within the scope of the study. Age, gestational week, gravida, parity, fetal gender, type of anomaly, presence of additional anomaly, prenatal diagnosis method, fetal karyotype result, termination status and postnatal results were recorded. Results: Hydronephrosis (HN) was in the first place among fetal urinary system anomalies. When congenital malformations accompanying urinary system anomalies were examined, central nervous system anomalies were the most common group with 26.4%. Urinary system anomalies, which are most frequently associated with additional anomalies; bilateral renal agenesis (50%), bilateral multicystic dysplastic kidney (50%) and extrofia vesica (50%). Considering the karyotype results, trisomy was observed in 26% of the cases, PKHD1 in 4% and triploidy in 2%. According to the karyotype result, when the group with normal karyotype and trisomy group was compared, the difference between the presence of additional anomalies (p=0.004), bilateral HN (p=0.012) and termination results (p=0.002) was found statistically significant. The rate of cases followed in pediatric surgery clinic/outpatient clinic in the postnatal period is 26% and 38.2% of these cases have undergone surgical intervention. Conclusion: Appropriate diagnosis, follow-up and treatment of urinary system anomalies that have a broad clinical spectrum, with a multidisciplinary approach, are of great importance in both the prenatal period and the postnatal period.

Kaynakça

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