The Farber lecture. Prenatal and perinatal death: the future of developmental pathology.
It seems evident that most of "humanity" dies before, not after birth and that perhaps only one-third survive from earliest beginnings until birth or the end of the first year of life. As many as 50% of all human ova may have a chromosome abnormality with over 99% mortality, making this type of genetic defect not just the commonest cause of death prenatally and the cause of a substantial proportion of the malformations of abortuses and fetuses, but the commonest cause of death in humans altogether. This study, along with numerous studies before it, is the most convincing justification for doing autopsies on pre- and perinatally dead embryos and fetuses. With appropriate supervisory collaboration from a university pediatric pathology unit, such studies can be done efficiently at secondary-care centers, including some in rather remote locations. Thus, there exists no excuse anymore for not doing such studies which, in a high proportion of cases, will give the parents and attending physicians an explanation of the events and observed abnormalities with a chance in all cases at correct diagnostic and genetic counseling, appropriate monitoring of the next pregnancy, and an improved possibility of population monitoring for teratogens and substantial increases in the mutation rate. These immediate benefits to patients and the quality of medical care are the major, but not the only, justification for doing fetal pathology. Literally thousands of new discoveries still await the investigator with a prepared mind and will afford many research opportunities to those with an interest in normal and abnormal human development. And if it can be resolved in present-day pathology training programs how to attract greater numbers of interested residents and fellows into the field and to motivate them to take the additional training to become expert in developmental and genetic analysis, then "developmental" pathology will be facing a very bright future indeed.
Opitz
J M
JM
Montana Fetal Genetic Pathology Program, Shodair Children's Specialty Hospital, Helena 59604.
D000328:Adult; D002869:Chromosome Aberrations / Q000453:epidemiology; D025063:Chromosome Disorders; D005260:Female; D005313:Fetal Death / Q000196:embryology / Q000453:epidemiology / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D010338:Pathology, Clinical / Q000639:trends; D011247:Pregnancy