Çoklu fetal anomali (OEIS kompleksi)

OEIS kompleksi (omfalosel, mesane ekstrofisi, anüs imperforatus ve spina bifida) etiyolojisi net bilinmeyen anomaliler bütünüdür. İlk kez 1978 yılında Carey ve arkadaşları tarafından tanımlanmıştır. Bu durum kloaka ekstrofisi olarak da adlandırılır ve 200.000-400.000 doğumda bir görülür. Birçok olguda sporadik olarak oluşsa da, genetik anomaliler nedeniyle de oluşabilmektedir. Burada sunduğumuz olgu, 30 yaşında 16-17 hafta gravida 3 parite 0, dış merkezden çoklu fetal anomali tanısı ile kliniğimize başvurmuştur. Kliniğimizde yapılan ayrıntılı ultrasonografisinde, haftası ile uyumlu bir fetus ve fetal batın ön duvarında yaklaşık olarak 23 mm boyutunda, içerisinde karaciğerin izlendiği omfalosel hali, omfalosel kesesinin üst kısmında kordon kisti, fetal ayaklarda bilateral pes ekinovarus ve torakal vertebral bölgede angulasyon izlendi. Mesane görüntülenemedi. Olgunun QF polimeraz zincir reaksiyonu (PCR) ve koryon villus biopsisinin kültür sonuçları 46 XY normal olarak saptandı. Hastaya terminasyon seçeneği önerildi ve gebelik termine edildi. Olgumuz OEIS kompleksinin tüm anomalilerini bulundurmamaktadır ancak bazı bulgularını içermesi nedeniyle OEIS kompleksi içerisinde değerlendirilmiştir.

Multiple fetal anomaly (OEIS complex)

OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects) is a combination of anomalies with unknown etiology. It was first described by Carey and colleagues in 1978. The condition is also known as exstrophy of the cloaca (EC) and seen in about 1/200.000 to 400.000 pregnancies. The case we present here was 30 year old women with a fetus at 16-17 weeks of gestation, gravida 3, parity 0. The woman was informed of the diagnosis of multiple fetal anomaly. Detailed ultrasonography revealed 23 mm size omphalocele which included the liver and above the omphalosel sac there was a cord cyst, bilateral pes equinovarus and thoracal vertebral angulation was also present. The bladder could not be visualised. QF PCR (Polymeraz chain reaction) and chorion villus biopsy revealed 46 XY normal karyotype. The option of termination was offered to family and pregnancy was terminated. Our case did not include all the components of the OEIS complex but it can be evaluated as OEIS complex because it included some of the structural deformities seen in the OEIS complex. We considered our case to be within the parameters of the OEIS complex.

Kaynakça

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