Miyelomeningosel Perinatal Yönetimi
Özet
Miyelomeningosel (MM), perinatal dönemde ciddi morbidite ve mortaliteye yol açan, en sık lomber bölgede görülen açık bir nöral tüp defektidir. Gebelik öncesi folik asit takviyesi riski %70 oranında azaltırken; obezite, diyabet ve genetik faktörler etyopatogenezde önemli rol oynar. MM'ye sıklıkla Chiari tip 2 malformasyonu (CM-2) ve hidrosefali eşlik eder. Prenatal tanı 16. haftadan itibaren ultrason, AFP düzeyleri ve fetal MRG ile konulabilir. Doğum yönetimi, lezyonun durumuna göre planlanır; sezaryen doğumun motor fonksiyonları korumada vajinal doğuma göre daha avantajlı olduğu saptanmıştır. Cerrahi onarımın doğumdan sonraki ilk 24-48 saat içinde yapılması enfeksiyon riskini minimize eder. Son yıllarda öne çıkan fetal cerrahi (MOMS çalışması), intrauterin onarımın arka beyin herniasyonunu düzeltebildiğini ve şant ihtiyacını azalttığını kanıtlamıştır. Postoperatif süreçte hastalar; nörojenik mesane, ortopedik deformiteler ve şant disfonksiyonu gibi kronik sorunlar açısından multidisipliner bir yaklaşımla takip edilmelidir. Erken tanı ve uygun cerrahi müdahale sağkalımı artırsa da, MM sakatlığın ana nedenlerinden biri olmaya devam etmektedir.
Myelomeningocele (MM) is an open neural tube defect most commonly seen in the lumbar region, causing significant perinatal morbidity and mortality. While pre-pregnancy folic acid supplementation reduces the risk by 70%, factors such as obesity, diabetes, and genetics play key roles in its etiopathogenesis. MM is frequently accompanied by Chiari type 2 malformation (CM-2) and hydrocephalus. Prenatal diagnosis can be established from the 16th week onwards via ultrasound, AFP levels, and fetal MRI. Delivery management is planned based on the lesion's condition; cesarean delivery has been found more advantageous for preserving motor functions compared to vaginal delivery. Surgical repair within the first 24-48 hours after birth minimizes infection risks. Fetal surgery, highlighted by the MOMS study, has proven that intrauterine repair can reverse hindbrain herniation and reduce the need for shunting. Postoperatively, patients must be monitored through a multidisciplinary approach for chronic issues like neurogenic bladder, orthopedic deformities, and shunt dysfunction. Although early diagnosis and appropriate surgical intervention have increased survival rates, MM remains a primary cause of chronic disability.
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