Le Marec B, Milon J, Catheline M, Cloarec L, Le Gall J Y, Grall J Y, Roussey M, Sénécal J
J Gynecol Obstet Biol Reprod (Paris). 1984;13(4):381-94.
The authors present their view of screening for central nervous system malformations in Brittany, having studied 192 case histories of subjects seen in the three years of genetic counselling in Rennes. Ultrasound usually manages to demonstrate anencephaly but all too often it fails to demonstrate spina bifida. Furthermore serum or amniotic fluid alphafetoprotein levels are often poorly interpreted. Microcephaly and encephaloceles occur rarely. The ultrasound diagnosis of the latter is easy whereas it is more difficult to diagnose microcephaly. The authors point out that there are familial forms of hydrocephaly and of holoprosencephaly which are not all that rare and fairly easy to diagnose so long as one remembers this very serious abnormality.
作者们介绍了他们对布列塔尼地区中枢神经系统畸形筛查的看法，他们研究了在雷恩进行的三年遗传咨询中所见到的192例病例的病史。超声检查通常能够发现无脑儿，但常常无法发现脊柱裂。此外，血清或羊水甲胎蛋白水平的解读往往不准确。小头畸形和脑膨出很少见。脑膨出的超声诊断很容易，而小头畸形的诊断则更困难。作者指出，脑积水和前脑无裂畸形存在家族性形式，并非十分罕见，只要记住这种非常严重的异常情况，就相当容易诊断。
