Dechelotte P, Malpuech G, Jacquetin B, Francannet C, Vanlieferinghen P, Charbonne F, De Laguillaumie B
J Genet Hum. 1985 Sep;33(3-4):283-8.
The authors report the results of 221 post-mortem examinations of fetuses, newborns, and infants performed during 26 months and theirs involvements in genetic counselling. 10,8% of these cases are provided by therapeutic terminations of pregnancy; necropsy confirmed the diagnosis afforded except for maternal infectious diseases contracted during pregnancy in which post-mortem examination revealed generally no abnormality. Genetic diseases represented 33,7%: in these cases anatomic examination took variable role, it is more important in multivisceral malformative syndromes, sudden death of infancy, and histologically prominent feature diseases. In 38,5% of cases, medical acquired disease were found; it elucidated cause of death and generally permitted to carry out favourable genetic counselling. At least 17,1% of cases stayed unexplained after necropsy.
作者报告了在26个月内对胎儿、新生儿和婴儿进行的221次尸检结果以及他们在遗传咨询中的参与情况。这些病例中有10.8%是由治疗性引产提供的;尸检证实了所提供的诊断,但孕妇在孕期感染的传染病除外,尸检通常未发现此类病例有异常。遗传疾病占33.7%:在这些病例中,解剖检查发挥的作用各不相同,在多脏器畸形综合征、婴儿猝死和组织学特征明显的疾病中更为重要。在38.5%的病例中,发现了医源性获得性疾病;这阐明了死亡原因,并通常有助于进行有利的遗传咨询。尸检后至少有17.1%的病例死因不明。