Problems of Birth Defects

Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri­ and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ­ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par­ precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.

I Beliefs, Mythology, Magic and Superstition.- 1. Congenital malformations in the past.- 2. A brief history of teratology to the early 20th century.- II Epidemiology of Birth Defects.- 3. Classification and nomenclature of morphological defects.- 4. Epidemiologic aspects of the problem of congenital malformations.- 5. Congenital malformations. A report of a study of series of consecutive births in 24 centres. (Extracts).- 6. The incidence of developmental and other genetic abnormalities.- III Teratological Mechanisms.- 7. Interrelation of the common congenital malformations. Some aetiological implications.- 8. Defective regulatory mechanisms in teratogenesis.- 9. Mechanisms of teratogenesis.- 10. Congenital postural deformities: perinatal associations.- IV Cytogenetic and Chromosomal Studies.- 11. A morphological distinction between neurones of the male and female, and the behaviour of the nucleolar satellite during accelerated nucleoprotein synthesis.- 12. The detection of chromosomal sex in hermaphrodites from a skin biopsy.- 13. The chromosome number of man.- 14. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions.- 15. Chromosome abnormality and perinatal death.- 16. Cytogenetics of fetal wastage.- 17. Spontaneous abortion and aging of human ova and spermatozoa.- 18. Where have all the conceptions gone?.- 19. Genetics of common disorders.- 20. Genetic hazards to man from environmental agents.- V Environmental Influences and Congenital Abnormalities.- 21. Pigs born without eye balls.- 22. Congenital cataract following German measles in the mother.- 23. The role of viruses in congenital defects.- 24. Congenital toxoplasmosis. A prospective study of 378 pregnancies.- 25. Therapeutic abortions with a folic acid antagonist, 4-aminopteroyl-glutamic acid (4-amino P.G.A.) administered by the oral route. (Extract).- 26. Diskussionsbemerkung von Privatdozent Dr. W. Lenz, Hamburg, zu dem Vortrag von R. A. Pfeiffer und K. Kosenow: Zur Frage der exogenen Entstehung schwerer Extremitätenmissbildungen.- 27. Thalidomide and congenital abnormalities.- 28. Thalidomide and congenital abnormalities.- 29. Foetal malformations due to thalidomide.- 30. Nonadrenal female pseudohermaphrodism after administration of testosterone to mother during pregnancy.- 31. Masculinization of female fetus due to use of orally given progestins.- 32. Adenocarcinoma of the vagina. Association of maternal stilbestrol therapy with tumor appearance in young women.- 33. Are anti-epileptics harmful in pregnancy? (Extract).- 34. Anticonvulsant drugs and congenital abnormalities.- 35. Congenital abnormalities and anticonvulsant drugs.- 36. A clinical look at the problem of drugs in pregnancy and their effect on the fetus.- 37. Intra-uterine methylmercury poisoning in Iraq.- 38. Assessing the impact of low level chemicals on development: behavioral and latent effects.- 39. A preliminary report of cigarette smoking and the incidence of prematurity. (Extract).- 40. Effect of mothers’ smoking habits on birth weight of their children.- 41. The fetal alcohol syndrome.- 42. Potatoes and spina bifida.- 43. The outcome of 625 pregnancies in women subjected to pelvic radium or roentgen irradiation. (Extract).- 44. Radiation and pregnancy.- VI Detection of Environmental Teratogens.- 45. Environmental factors in the etiology of human malformations: perspectives and problems of evaluation.- 46. Hazards of the first nine months: an epidemiologist’s nightmare.- VII Prenatal Diagnosis and Management of Congenital Abnormalities.- 47. Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases.- 48. Prenatal diagnosis of mongolism by X-ray.- 49. Diagnosis of congenital fetal abnormalities by sonography.- 50. Amniography for detection of congenital malformations.- 51. Diagnosis of human fetal abnormalities by fetography.- 52. Genetic counselling—or what can we tell parents?.- 53. Pre-, peri- and postnatal prevention of major neuropediatric handicaps.- VIII Social, Ethical, and Medico-Legal Problems.- 54. Moral and ethical problems of pre-natal diagnosis.- 55. Attitudes toward defective newborns.- 56. Ethical and social aspects of treatment of spina bifida.- 57. Moral and ethical dilemmas in the special-care nursery.- Further References.