Mueller R F, Sybert V P, Johnson J, Brown Z A, Chen W J
N Engl J Med. 1983 Sep 8;309(10):586-90. doi: 10.1056/NEJM198309083091004.
A variety of procedures have been recommended for post-mortem examination of stillbirths to determine the cause of the loss of the pregnancy and to provide an estimate of the risk of recurrence. We studied the relative usefulness of several such techniques, including gross and microscopical autopsy, photography, radiography, bacterial cultures, and chromosome studies. In 44 (35 per cent) of 124 cases of stillbirth or early neonatal death, structural physical abnormalities were evident at autopsy. In 35 of the 44 cases the abnormalities were due to chromosomal, single-gene, or polygenic disorders. The single most useful examination was the gross autopsy. Analysis of the various procedures suggests that when resources are limited, gross autopsy, photography, radiography, and bacterial cultures should be performed in all cases of stillbirth and early neonatal death, but that karyotyping and histopathology may be used selectively. This approach should minimize the use of expensive, low-yield procedures without compromising the ability to provide information for purposes of genetic counseling.
已经推荐了多种用于死产尸检的程序,以确定妊娠丢失的原因并估计复发风险。我们研究了几种此类技术的相对效用,包括大体解剖和显微镜检查、摄影、放射照相、细菌培养和染色体研究。在124例死产或早期新生儿死亡病例中,有44例(35%)在尸检时发现明显的结构身体异常。在这44例病例中的35例中,异常是由染色体、单基因或多基因疾病引起的。最有用的单项检查是大体解剖。对各种程序的分析表明,当资源有限时,应在所有死产和早期新生儿死亡病例中进行大体解剖、摄影、放射照相和细菌培养,但核型分析和组织病理学可选择性使用。这种方法应尽量减少使用昂贵且产出低的程序,同时又不影响为遗传咨询目的提供信息的能力。