A Trisomy 22 Case With Multiple Structural Abnormalitıes On The Second Trimester Sonography and Related Literature Review

Yıl 2016, Cilt: 30 Sayı: 1, 39 - 43, 24.06.2016

Esra Ataman , Elif Yılmaz Güleç Filiz Hazan Erhan Parıltay Deniz Acar Ali Gedikbaşı Halil Aslan

Öz

Non-mosaic trisomy 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.

Anahtar Kelimeler

Trisomy 22, Prenatal Diagnosis, Chromosomal Anomaly, Genetic Counselling

İkinci Trimester Sonografik Taramasında Multipl Yapısal Anomaliler Gösteren Trizomi 22 Olgusu ve Literatür Derlemesi

Öz

Mozaik olmayan trizomi
22, ilk trimester abortuslarının yaygın nedenlerinden biridir. Canlı doğumda
görülme oranı oldukça düşüktür ve yaklaşık 1/30000-50000’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.

Anahtar Kelimeler

Trizomi 22, Prenatal Tanı, Kromozomal Anomali, Genetik Danışma, Anormal USG Bulgusu

Kaynakça

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