Gillerot Y, Koulischer L
J Genet Hum. 1985 Sep;33(3-4):289-93.
Data analysis of 600 neonatal necropsies performed in our Center from 1978 to 1984, has shown that in 200 cases one or more lethal malformations were observed: the most frequent concerned the central nervous system (33 cases), the urinary tract system (28 cases) and the cardiovascular system (26 cases). A genetic determinism was considered in 127 cases (63,5%). Usually a genetic counselling follows neonatal death in our Center: necropsy findings are then most useful: the authors advocate the interest of a close collaboration between pathologists and geneticists.
对1978年至1984年在我们中心进行的600例新生儿尸检的数据分析表明,在200例中观察到一种或多种致命畸形:最常见的涉及中枢神经系统(33例)、泌尿系统(28例)和心血管系统(26例)。127例(63.5%)考虑有遗传因素。在我们中心,新生儿死亡后通常会进行遗传咨询:尸检结果此时最为有用:作者提倡病理学家和遗传学家密切合作。