Congenital Malformations in the Fetus: 
Approaches to Examination and Diagnosis

Joseph R. Siebert, PhD
Raj P. Kapur, MD, PhD

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1. Artifact of autolysis: herniation of liquefied CNS tissue into retroperitoneum and scrotum. 2. Cord stricture: evidence of physiological obstruction (hemorrhage, congestion, thrombosis) is required to ascribe fetal demise to cord stricture/torsion.
3. 16 week intrauterine fetal demise due to Toxoplasmosis. Organism is preserved despite autolysis of fetus. 4. Parvoviral inclusions in autolyzed liver from fetal demise.
5. Hydropic fetus with large cystic hygroma (Monosomy X). 6. Structural cardiac anomalies are one cause of fetal hydrops: hypoplastic left heart and aortic arch from a hydropic fetus.
7. Congenital leukemia: neoplastic distension of fetal vessels in the placenta. 8. Flow chart indicating assays that require special handling of tissue at the time of autopsy and their indications.
9. Skeletal muscle from a fetus with akinesia should be handled like a surgical muscle biopsy. In this fetus with lethal pterygia due to primary myopathy the diagnosis was established by severe paucity of muscle fibers identified by muscle-specific myosin immunohistochemistry. 10. Macerated fetus with velocardial/DiGeorge syndrome, confirmed by fluorescence in situ hybridization.
11. Historical perspectives - cultural remnants to a number of historical stages in the understanding of congenital anomalies must be appreciated by workers seeking to provide high quality counseling. 12. Evaluating anomalies - in addition to making a diagnosis, the pathologist dealing with congenital anomalies seeks to elucidate the mechanism(s) responsible for the anomaly(ies) in question.
13. Evaluating anomalies - the pathologist also seeks to identify the cause(s) of the anomaly or anomalies. 14. Deformation - definition and example; most deformations have intrauterine causes, but clinical colleagues must be warned to avoid this confusing postmortem deformation.
15. Disruption - definition and example; amniotic band is clearly visible and would presumably produce enough ischemia to result in autoamputation of the foot. 16. Malformation - definition and example; anencephaly is a lethal anomaly that is readily identified by prenatal ultrasound.
17. Syndrome - definition and example (trisomy 21). 18. Sequence - definition and example; transilluminated fetus with prune belly sequence secondary to urethral atresia.
19. Approach to posterior urethral valves - method of dissection and example of valves. 20. The autopsy - summary slide of philosophy, major features.