Abdalla Ebtesam M, El Desouky Lubna M, Hassanein Nargues M
Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt.
Turk J Pediatr. 2015 Mar-Apr;57(2):146-53.
The aim of this study was to investigate the usefulness of postmortem external examination performed by an experienced clinical geneticist as an alternative to autopsy in countries with limited resources. We studied a consecutive cohort of couples seeking genetic counseling for fetal loss or perinatal death over a period of 3 years. The study involved 230 couples; only 57 of them submitted a fetus or dead neonate, for whom a meticulous postmortem clinical examination was performed by an experienced clinical geneticist. The diagnosis rate for the group of cases subjected to postmortem examination (57.9%) was much higher than that of the group that comprised cases for which diagnosis was made through evaluation of medical records (27.2%). Whenever fetal or neonatal autopsy is refused or is not feasible, a comprehensive fetal or perinatal postmortem external examination by an experienced clinical geneticist may be a reasonable substitute.
本研究的目的是调查在资源有限的国家,由经验丰富的临床遗传学家进行尸体外部检查作为尸检替代方法的实用性。我们研究了连续三年因胎儿丢失或围产期死亡寻求遗传咨询的夫妇队列。该研究涉及230对夫妇;其中只有57对提交了胎儿或死亡新生儿,由经验丰富的临床遗传学家对其进行了细致的尸体临床检查。接受尸体检查的病例组诊断率(57.9%)远高于通过病历评估进行诊断的病例组(27.2%)。每当胎儿或新生儿尸检被拒绝或不可行时,由经验丰富的临床遗传学家进行全面的胎儿或围产期尸体外部检查可能是一种合理的替代方法。