Tutus Sadan, Ozyurt Sezin, Yilmaz Ebru, Acmaz Gokhan, Akin Mustafa Ali
Department of Radiology, Kayseri Education and Research Hospital, Kayseri, Turkey.
Department of Gynecology and Obstetric, Kayseri Education and Research Hospital, Kayseri, Turkey.
North Clin Istanb. 2014 Dec 8;1(2):78-83. doi: 10.14744/nci.2014.84803. eCollection 2014.
Central nervous system (CNS) anomalies are the most common abnormalities of all malformations and can be diagnosed on routine prenatal ultrasonography (US). We aimed to find out fetal CNS anomaly rate in our clinic which is the referral center in the region.
This is a retrospective study of 15000 pregnant women who were scanned for routine obstetric follow-up from January 2012 to July 2013 in our referral center. We diagnosed CNS anomalies in 41 fetuses by using high resolution ultrasound unit with 3.5 MHz transabdominal and 6 MHz transvaginal transducers.
CNS anomalies included 12 Chiari malformations, 2 Dandy-Walker malformations (DWM), 1 variant of Dandy-Walker syndrome (DWS), 3 iniencephalies, 15 anencephalies, 1 alobar holoprosencephaly, 2 isolated hydrocephalies, 3 hydrocephalies with cerebellar hypoplasia, 1 occipital encephalocele, 1 lumbosacral myelomeningocele accompanied with microcephaly. There were some associated anomalies in the groups that included club-foot deformities in 6 cases, ventricular septal defect (VSD) in 2 cases, polycystic kidney in 2 cases, scoliosis in 1 case, hypoplasic left ventricle in 1 case; alone atrium, single umbilical artery, echogenic focus, hydronephrosis and cleft lip and palate in the same case, and omphalocele in one.
Prognosis and early detection of CNS abnormalities have become an important issue because the most serious complications of major CNS anomalies are disability and getting bedridden and this situation is inevitably related to health economy. On the other hand prognosis of the fetus and family counseling is another important issue. Parents should decide whether to continue their pregnancies or not.
中枢神经系统（CNS）异常是所有畸形中最常见的异常情况，可通过常规产前超声检查（US）进行诊断。我们旨在查明我们诊所（该地区的转诊中心）的胎儿中枢神经系统异常率。
这是一项对15000名孕妇的回顾性研究，这些孕妇于2012年1月至2013年7月在我们的转诊中心接受了常规产科随访扫描。我们使用配备3.5兆赫经腹探头和6兆赫经阴道探头的高分辨率超声设备诊断出41例胎儿存在中枢神经系统异常。
中枢神经系统异常包括12例Chiari畸形、2例Dandy-Walker畸形（DWM）、1例Dandy-Walker综合征（DWS）变异型、3例无脑畸形、15例无脑儿、1例叶状全前脑畸形、2例孤立性脑积水、3例伴有小脑发育不全的脑积水、1例枕部脑膨出、1例伴有小头畸形的腰骶部脊髓脊膜膨出。这些病例组中还存在一些相关异常，包括6例马蹄内翻足畸形、2例室间隔缺损（VSD）、2例多囊肾、1例脊柱侧弯、1例左心室发育不全；同一病例中存在单心房、单脐动脉、强回声光斑、肾积水、唇腭裂，以及1例脐膨出。
由于主要中枢神经系统异常的最严重并发症是残疾和卧床不起且这种情况不可避免地与卫生经济相关，因此中枢神经系统异常的预后和早期检测已成为一个重要问题。另一方面，胎儿的预后和家庭咨询是另一个重要问题。父母应决定是否继续妊娠。
