Phadke Shubha R, Gupta Ashutosh
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raibarelly Road, Lucknow, Uttar Pradesh, India.
J Clin Ultrasound. 2010 Jun;38(5):244-9. doi: 10.1002/jcu.20688.
To compare antenatal diagnosis with post mortem examination findings in the pregnancies terminated after prenatal detection of anomalies and to evaluate the potential benefits of post mortem examination for counseling regarding the risk of recurrence.
This is a retrospective study over a 7-year period from 2001 to 2007. Pregnancies terminated after prenatal identification of fetal malformation were evaluated by post mortem examination of 91 fetuses.
Fetal autopsy provided a definite diagnosis in 72/91 (79.1%) of the cases. Fetal autopsy confirmed the sonographic findings in 89 of 91 cases (97.8%). In 66 (72.5%) cases there was complete concordance between prenatal and autopsy findings, while in 23 cases there was major concordance. There were 49 cases with isolated malformations, 41 cases with multiple (89) malformations, and, in one case, no malformation was found at autopsy. Of the 89 associated malformations, 39 (43.8%) were detected prenatally and 50 (56.2%) were detected on fetal autopsy. The additional malformations detected on autopsy included 38 major and 12 minor malformations Additional findings helped in redefining the diagnosis and the risk of recurrence in 30 of 91 (33%) cases.
The present study emphasizes the importance of autopsy in providing accurate etiologic diagnosis necessary for genetic counseling.
比较产前检测出异常后终止妊娠的产前诊断结果与尸检结果，并评估尸检对于复发风险咨询的潜在益处。
这是一项对2001年至2007年7年期间的回顾性研究。对产前识别出胎儿畸形后终止妊娠的情况进行评估，对91例胎儿进行尸检。
胎儿尸检在72/91（79.1%）的病例中提供了明确诊断。胎儿尸检在91例中的89例（97.8%）中证实了超声检查结果。在66例（72.5%）病例中，产前和尸检结果完全一致，而在23例中存在主要一致性。有49例为孤立畸形，41例为多发（89处）畸形，1例尸检未发现畸形。在89处相关畸形中，39处（43.8%）在产前被检测到，50处（56.2%）在胎儿尸检时被检测到。尸检时检测到的额外畸形包括38处主要畸形和12处次要畸形。额外的发现有助于在91例（33%）病例中的30例重新定义诊断和复发风险。
本研究强调了尸检在提供遗传咨询所需准确病因诊断方面的重要性。
