İkinci Trimester Sonografik Taramasında Multipl Yapısal Anomaliler Gösteren Trizomi 22 Olgusu ve Literatür Derlemesi
Küçük Resim Yok
Tarih
2016
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Mozaik olmayan trizomi 22, ilk trimester abortuslarının yaygın nedenlerinden biridir. Canlı doğumda görülme oranı oldukça düşüktür ve yaklaşık 1/3000050000'dir. İkinci ve üçüncü trimesterde saptanma oranı da oldukça düşüktür ve fetal ultrasonografide (USG) ciddi büyüme geriliği ve multipl yapısal anomaliler ile kendini gösterir. Bu makalede, ikinci trimesterde fetal ultrasonda multipl anomali nedeni ile Tıbbi Genetik Polikliniği'ne yönlendirilen ve kordosentez ile yapılan fetal karyotip analizi sonucu trizomi 22 bulunan bir fetus sunulmuş ve literatürdeki trizomi 22 olgularının prenatal sonografik özellikleri tartışılmıştır. Genellikle ilk trimester abortusu ile sonuçlanan anöploidilerin, nadir de olsa ikinci trimesterde karşımıza anormal USG bulguları ile çıkabileceği, anormal USG bulgularında prenatal karyotip analizinin önemi ve anöploidilerin sonraki gebeliklerde tekrarlama riski nedeniyle ayrıntı bir genetik danışma verilmesinin önemi vurgulanmak istenmiştir
Non-mosaictrisomy 22 is one of the common causes of first trimester abortions. It is occasionally observed in live births with an incidence of 1/30000-50000. Its detection is rare in the second or third trimesters as well, and is manifested with serious growth retardation and multiple structural abnormalities on fetal ultrasonography. Herein, we report a case with an abnormal fetal karyotype demonstrating trisomy 22 by cordosynthesis, that was referred to our Medical Genetic Polyclinics due to multiple abnormalities on the second trimester fetal ultrasonography, and subsequently discuss the prenatal ultrasonographic characteristics of trisomy 22 cases in the literature. This study was meant to highlight the importance of prenatal karyotype analysis in abnormal sonographical findings with regard to the presence of possible aneuploidies, which generally result in first trimester abortions, but that may be observed in the second trimester although occasionally, and to emphasize the importance of a detailed genetic counselling due to the risk of a repetition in the following pregnancies
Non-mosaictrisomy 22 is one of the common causes of first trimester abortions. It is occasionally observed in live births with an incidence of 1/30000-50000. Its detection is rare in the second or third trimesters as well, and is manifested with serious growth retardation and multiple structural abnormalities on fetal ultrasonography. Herein, we report a case with an abnormal fetal karyotype demonstrating trisomy 22 by cordosynthesis, that was referred to our Medical Genetic Polyclinics due to multiple abnormalities on the second trimester fetal ultrasonography, and subsequently discuss the prenatal ultrasonographic characteristics of trisomy 22 cases in the literature. This study was meant to highlight the importance of prenatal karyotype analysis in abnormal sonographical findings with regard to the presence of possible aneuploidies, which generally result in first trimester abortions, but that may be observed in the second trimester although occasionally, and to emphasize the importance of a detailed genetic counselling due to the risk of a repetition in the following pregnancies
Açıklama
Anahtar Kelimeler
Cerrahi
Kaynak
Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
30
Sayı
1
