Bell W O, Nelson L H, Block S M, Rhoney J C
Department of Neurosurgery, Bowman Gray School of Medicine, Winston-Salem, N.C., USA.
Pediatr Neurosurg. 1996;24(3):134-7; discussion 138. doi: 10.1159/000121029.
Advances in realtime ultrasound imaging and a greater availability of high-quality ultrasound equipment have resulted in an increased number of congenital abnormalities being diagnosed prenatally in the last 10-15 years. In addition, testing for maternal serum alpha-fetoprotein, beta-human chorionic gonadotropin, and serum unconjugated estriol has allowed for more sensitive screening for congenital abnormalities. In response to this, in 1989 the Prenatal Diagnosis and Treatment Center was established at our institution to coordinate the care of fetuses and newborns with congenital malformations and to provide alternatives for the parents should the fetus not be carried to term. From January 1990 through June 1993, our group diagnosed 50 singleton pregnancies with various types of central nervous system disorders by the methods outlined above. Thirty-seven fetuses were diagnosed with neural tube defects. Of these, 5 were anencephalic and 1 had an encephalocele. The remaining 31 fetuses had meningomyeloceles with associated hydrocephalus. Of these 31, 18 fetuses were terminated prior to the age of viability as a result of our counseling and 13 fetuses were brought to term. Of the remaining 13 fetuses, 8 had hydrocephalus and 5 had various other diagnoses. Three of the eight hydrocephalic fetuses were either terminated, stillborn, or died following birth. Of the other 5 fetuses with hydrocephalus, 3 had shunts placed, 1 was followed with normal head growth, and 1 had normal ventricular size at birth. Using the methods available, the accuracy of diagnosis is very high, with only 1 fetus in this series being incorrectly diagnosed. Additionally the advantages of being able to counsel the parents regarding their unborn child allows them to make informed decisions. Accurate prenatal diagnosis plays a major role in the care of the fetus and in counseling parents prenatally for pediatric neurosurgical problems.
在过去10到15年中，实时超声成像技术的进步以及高质量超声设备的更广泛应用，使得产前诊断出的先天性异常数量有所增加。此外，对孕妇血清甲胎蛋白、β-人绒毛膜促性腺激素和血清非结合雌三醇的检测，能够对先天性异常进行更敏感的筛查。针对这一情况，1989年我们机构设立了产前诊断与治疗中心，以协调对患有先天性畸形的胎儿和新生儿的护理，并在胎儿无法足月出生时为父母提供其他选择。从1990年1月到1993年6月，我们的团队通过上述方法诊断出50例单胎妊娠伴有各种类型的中枢神经系统疾病。37例胎儿被诊断为神经管缺陷。其中，5例为无脑儿，1例有脑膨出。其余31例胎儿患有伴有脑积水的脊髓脊膜膨出。在这31例中，18例胎儿由于我们的咨询在可存活年龄之前被终止妊娠，13例胎儿足月出生。在其余13例胎儿中，8例有脑积水，5例有其他各种诊断。8例脑积水胎儿中有3例要么被终止妊娠、死产，要么出生后死亡。在其他5例脑积水胎儿中，3例进行了分流手术，1例头部生长正常并接受随访，1例出生时脑室大小正常。使用现有的方法，诊断准确率非常高，本系列中只有1例胎儿被误诊。此外，能够就未出生胎儿的情况向父母提供咨询的优势，使他们能够做出明智的决定。准确的产前诊断在胎儿护理以及就小儿神经外科问题对父母进行产前咨询方面发挥着重要作用。
