Holzgreve W, Feil R, Louwen F, Miny P
Zentrum für Frauenheilkunde Westfälische Wilhelms-Universität, Münster, Germany.
Childs Nerv Syst. 1993 Nov;9(7):408-12. doi: 10.1007/BF00306194.
Two cases of prenatal diagnosis of lissencephaly are presented in the context of a series of 118 cases of prenatally diagnosed hydrocephalus. Within this series there was one case of Walker-Warburg syndrome and another of Miller-Dieker syndrome. It is stressed that the cases reported here of ventriculomegaly diagnosed in utero show a very different outcome from those in published studies of fetal hydrocephalus which only deal with patients in whom the diagnosis was determined after birth. In those postnatal series there is a considerable selection bias, and the fate of the fetuses reported here was much worse than in postnatal series. Of the 118 fetuses 6 had fetal infections, 6 had chromosomal abnormalities, 26 had associated spina bifida, 64 fetuses had associated other anomalies, and only 28 had isolated hydrocephalus. Although it is difficult to determine the prognosis individually after prenatal diagnosis of ventriculomegaly, the data presented here may be helpful in counseling parents prenatally. The counseling should be performed with the collaboration of obstetricians, pediatricians, surgeons, and geneticists.
在118例产前诊断脑积水的病例系列中，报告了两例无脑回畸形的产前诊断病例。在这个病例系列中，有一例沃克 - 沃尔堡综合征和另一例米勒 - 迪克综合征。需要强调的是，这里报告的子宫内诊断为脑室扩大的病例与已发表的胎儿脑积水研究中的病例结果截然不同，后者仅涉及出生后才确诊的患者。在那些产后病例系列中存在相当大的选择偏倚，这里报告的胎儿的结局比产后病例系列中的情况要差得多。在这118例胎儿中，6例有胎儿感染，6例有染色体异常，26例伴有脊柱裂，64例胎儿伴有其他异常，只有28例为单纯性脑积水。虽然产前诊断脑室扩大后很难单独确定预后，但这里提供的数据可能有助于在产前为父母提供咨询。咨询应在产科医生、儿科医生、外科医生和遗传学家的合作下进行。
