Rossi A Cristina, Prefumo Federico
Clinic of Obstetrics and Gynecology, Ospedale della Murgia, Bari, Italy.
Maternal-Fetal Medicine Unit, Department of Obstetrics and Gynecology, University of Brescia, Brescia, Italy.
Eur J Obstet Gynecol Reprod Biol. 2017 Mar;210:201-206. doi: 10.1016/j.ejogrb.2016.12.024. Epub 2016 Dec 29.
The objective of this study was to review literature about the correlation between fetal autopsy and ultrasound findings of fetal malformations. Search in PubMed, Medline, EMBASE, Clinicl trials.org, reference list was performed. Inclusion criteria for studies selection were: fetal autopsy performed after termination of pregnancy (TOP) or stillbirth, TOP for fetal anomalies, prenatal diagnosis of malformations, data reported as proportional rates.
case reports, non English language, data reported in graphs or percentage. From each article: sample size, type of malformation, indication for TOP, autopsy findings. Fetal anomalies were grouped in central nervous system (CNS), genitourinary (GU), congenital heart defects (CHD), gastrointestinal (GI), thorax, limbs, skeleton, genetics (TOP for abnormal karyotype), multiples (TOP for multiple severe malformations for which a single indication for TOP/stillbirth could not be identified). Correspondence between autopsy and ultrasound was defined as agreement (same diagnosis), additional (additional findings undetected by ultrasound), unconfirmed (false positive and false negative ultrasound). PRISMA guidelines were followed. From 19 articles, 3534 fetuses underwent autopsy, which confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and unconfirmed prenatal ultrasound in 329 (9.2%) fetuses. The latter group consisted of 3.2% false positive and 2.8% false negative cases. The additional findings changed the final diagnosis in 3.8% of cases. The most frequent indication for TOP/stillbirth was CNS anomalies (36.3%), whereas thorax anomalies represented the less frequent indication (1.7%). The highest agreement between autopsy and prenatal ultrasound was observed in CNS (79.4%) and genetics (79.2%), followed by GU anomalies (76.6%), skeleton (76.6%), CHD (75.5%), thorax (69.7%); GI (62.6%), multiple (37.0%), limbs (23.3%). In spite of the high agreement between prenatal ultrasound and autopsy, fetal examination is mandatory because in a minority of cases it discloses additional findings or changes the final diagnosis and genetic counselling.
本研究的目的是回顾关于胎儿尸检与胎儿畸形超声检查结果之间相关性的文献。检索了PubMed、Medline、EMBASE、Clinicaltrials.org及参考文献列表。研究选择的纳入标准为：妊娠终止（TOP）或死产后进行的胎儿尸检、因胎儿畸形而进行的TOP、畸形的产前诊断、以比例率形式报告的数据。
病例报告、非英文文献、以图表或百分比形式报告的数据。从每篇文章中提取：样本量、畸形类型、TOP指征、尸检结果。胎儿畸形分为中枢神经系统（CNS）、泌尿生殖系统（GU）、先天性心脏缺陷（CHD）、胃肠道（GI）、胸部、四肢、骨骼、遗传学（因染色体核型异常而进行的TOP）、多胎妊娠（因多种严重畸形而进行的TOP/死产，无法确定单一的TOP/死产指征）。尸检与超声之间的对应关系定义为一致（相同诊断）、补充（超声未检测到的额外发现）、未确认（超声假阳性和假阴性）。遵循PRISMA指南。19篇文章中，3534例胎儿接受了尸检，其中2401例（68.0%）胎儿的产前超声检查结果得到尸检确认，794例（22.5%）胎儿提供了额外信息，329例（9.2%）胎儿的产前超声检查结果未得到确认。后一组包括3.2%的假阳性病例和2.8%的假阴性病例。额外发现使3.8%的病例最终诊断发生改变。TOP/死产最常见的指征是CNS异常（36.3%），而胸部异常是最不常见的指征（1.7%）。尸检与产前超声之间一致性最高的是CNS（79.4%）和遗传学（79.2%），其次是GU异常（76.6%）、骨骼（76.6%）、CHD（75.5%）、胸部（69.7%）、GI（62.6%）、多胎妊娠（37.0%）、四肢（23.3%）。尽管产前超声与尸检之间一致性较高，但胎儿检查仍是必要的，因为在少数情况下，它会揭示额外发现或改变最终诊断及遗传咨询结果。
