Summary
The basis of maternal serum alpha-fetoprotein (AFP)-screening for neural tube defects is discussed. A report is given of a large scale screening study in the Federal Republic of Germany combining the experiences in Giessen and Hannover on over 50,000 pregnant women, about evently distributed among both centers. Published and known forthcoming data from other low incidence populations, particularly of European countries, are reviewed briefly. The conclusion is reached that general screening could effectively be instituted and in the final result should also be cost-beneficial.
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References
AAP and ACOP Statement on Alpha-Fetoprotein Testing. ACOG news release, The American College of Obstetricians and Gynecologists, Washington, June 17, 1983
Maternal serum alpha-fetoprotein screening for neural tube defects. Results of a consensus meeting (in press) Prenatal Diagn
U.K. collaborative study on alpha-fetoprotein in relation to neural tube defects (1977) Lancet I:1323–1332
U.K. collaborative study (1981) Amniotic fluid acetylcholinesterase electrophoresis as a secondary test in the diagnosis of anencephaly and open spina bifida in early pregnancy. Lancet II:321–324
U.K. collaborative study (1982) Third report on alpha-fetoprotein in relation to neural tube defects: survival of infants with open spina bifida in relation to maternal serum alpha-fetoprotein level. Br J Obstet Gynecol 89:3–7
U.K. collaborative study (1982) Fourth report on alpha-fetoprotein in relation to neural tube defects: estimating an individual's risk of having a fetus with open spina bifida and the value of repeat alpha-fetoprotein testing. J Epidemiol Community Health 36:87–95
Adinolfi M (1979) Human alpha-fetoprotein. Adv Hum Genet 9:165–228
Adinolfi A, Adinolfi M, Lessof MH (1975) Alpha-fetoprotein during development and in disease. J Med Genet 12:138–151
Althouse R, Wald N (1980) Survival and hardship of infants with spina bifida. Arch Dis Child 55:845
Beljan JR, Cooper T, Dolan WD, Friedlander IR, Gifford RW, Kastan MB, Moxley III JH, Schmidt RTF, Skom JH, Smith RJ, Snow JB, Tupper CJ, Jones RJ (1982) Maternal serum alpha-fetoprotein monitoring. Council Report, Council on Scientific Affairs. JAMA 247:1478–1481
Bieber FR, Redwine FO (1980) Neural tube defects in two offspring of an affected female. Lancet II:1202
Bjerkedal T, Czeizel A, Goujard J, Kallen B, Mastroiacova P, Nevin N, Oakley G, Robert E (1982) Valproic acid and spina bifida. Lancet II:1096
Brock DJH (1978) Screening for neural tube defects. In: Scrimgeour JB (ed) Towards the prevention of fetal malformation. University Press, Edinburgh, pp 37–46
Brock DJH (1979) Prenatal diagnosis of neural tube defects. In: Weitzel HK, Schneider J (eds) AFP in clinical medicine. Georg Thieme Verlag, Stuttgart, pp 1–6
Brock DJH (1981) Effectiveness of prenatal screening. In: Prenatal diagnosis and mechanisms of teratogenesis. Birth Defects 18:109–120
Brock DJH (1982) Impact of maternal serum alpha-fetoprotein screening on antenatal diagnosis. Br Med J 285:365–367
Brock DJH (1984) Maternal serum alpha-fetoprotein as screening test for Down syndrome. Lancet I:1292
Brock DJH, Gosden C (1978) Fetal wastage as a result of an alpha-fetoprotein screening-programme. Lancet I:941
Brock DJH, Hayward C (1980) Gel electrophoresis of amniotic fluid acetylcholinesterase as an aid to the prenatal diagnosis of fetal defects. Clin Chim Acta 108:135–141
Brock DJH, Scrimgeour JB (1975) Screening for neural tube defects. Lancet I:745
Brock DJH, Sutcliffe RG (1972) Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet II:197
Brock DJH, Bolton AE, Monaghan JM (1973) Prenatal diagnosis of anencephaly through maternal serum alpha-fetoprotein measurement. Lancet II:923–924
Brock DJH, Bolton AE, Monaghan JM (1974) Prenatal diagnosis of spina bifida and anencephaly through maternal plasma alpha-fetoprotein measurement. Lancet I:676–769
Brock DJH, Scrimgeour JB, Nelson MM (1975a) Amniotic fluid alpha-fetoprotein measurement in the early diagnosis of central nervous system disorders. Clin Genet 7:163–169
Brock DJH, Scrimgeour JB, Bolton AE (1975b) Effect of gestational age on screening for neutral defects by maternal plasma-AFP measurement. Lancet II:195–196
Brock DJH, Barron L, Jelen P (1977) Maternal serum alpha-fetoprotein measurement as an early indicator of low birthweight. Lancet II:267
Brock DJH, Scrimgeour JB, Steven J, Barron L, Watt M (1978) Maternal plasma alpha-fetoprotein screening for fetal neural tube defects. Br J Obstet Gynecol 85:575–581
Brock DJH, Barron L, Duncan P, Scrimgeour JB, Watt M (1979) Significance of elevated mid-trimester maternal plasma alpha-fetoprotein values. Lancet I:1281–1282
Brock DJH, Barron L, Watt M, Scrimgeour JB (1979) The relation between maternal plasma alpha-fetoprotein and birth weight in twin pregnancies. Br J Obstet Gynecol 86:710–712
Buamah PK, Evans L, Ward AM (1980) Amniotic fluid acetylcholinesterase isoenzyme patterns in the diagnosis of neural tube defects. Clin Chim Acta 103:147–151
Burton BK, Sowers GS, Nelson LH (1983) Maternal serum alpha-fetoprotein in North Carolina: experience with more than twelve thousand pregnancies. Am J Obstet Gynecol 146:439–444
Chamberlain J (1978) Human benefits and costs of a national screening programme for neural-tube defects. Lancet II:1293
Chard T, Kitau MJ, Ledward R, Coltrat T, Embury S, Seller MJ (1976) Elevated levels of maternal plasma alpha-fetoprotein after amniocentesis. Br J Obstet Gynecol 83:33–34
Chubb IW, Smith AD (1975) Isoenzymes of soluble and membrane-bound acetylcholinesterase in bovine splanchnic nerve and adrenal medulla. Proc R Soc Lond [Biol] 191:245–261
Clayton-Hopkins J, Olsen PN, Blake AP (1982) Maternal serum alpha-fetoprotein levels in the pregnancy complicated by hypertension. Prenatal Diagn 2:47–54
Corney G, MacGillivray I, Campbell DM, Thompson B, Little J (1983) Congenital anomalies in twins in Aberdeen and Northeast Scotland. Acta Genet Med Gemellol (Roma) 32:31–36
Cowchok S (1982) Neural tube defects. J Med Genet 19:393
Cowchock S, Ainbener E, Prescott G, Crandall B, Lau L, Heller R, Muir WA, Kloza E, Feigelson M, Mennuti M, Cederquist L (1980) The recurrence risk for neural tube defects in the United States: a collaborative study. Am J Med Genet 5:309–314
Crandall BF, Schroth PC, Lebherz TB (1982) Racial differences in maternal serum alpha-fetoprotein levels (MS-AFP). Am J Hum Genet 34:85A
Creasy MR, Alberman ED (1976) Congenital malformations of the central nervous system in spontaneous abortions. J Med Genet 13:9–16
Cuckle H, Wald N, Brock D (1980) Screening for neural tube defects. Lancet I:1090
Cuckle HS, Wald NJ, Lindenbaum RH (1984) Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet I:926–929
Dallaire L (1983) Personal communication
Danks DM, Halliday JL (1983) Incidence of neural tube defects in Victoria, Australia. Lancet I:65
Davenport DM, Macri JN (1983) The clinical significance of low maternal serum alpha-fetoprotein. Am J Obstet Gynecol 146:657–661
Dunelm J (1978) Ethical problems of screening for neural tube defects. Lancet II:148
Elwood JM, Elwood JH (1980) Epidemiology of anencephalus and spina bifida. Oxford University Press, Oxford
Elwood JH, Nevin NC (1973) Factors associated with anencephalus and spina bifida in Belfast. Br J Prev Soc Med 27:73–80
Enticknap JP, Faigen M, Piatkus B (1981) Maternal alpha-fetoprotein screening: two years experience in a low-risk district. Br Med J 283:1261–1262
Ferguson-Smith MA (1983) The reduction of anencephalic and spina bifida births by maternal serum alpha-fetoprotein screening. Br Med Bull 39:365–372
Ferguson-Smith MA, Rawlinson HA, May HM, Tait HA, Vince JD, Gibson AAM, Robinson HP, Racliffe JG (1978) Avoidance of anencephalic and spina bifida births by maternal serum alpha-fetoprotein screening. Lancet I:1330
Ferguson-Smith MA, Gibson AAM, Whitfield CR, Ratcliffe JH (1979) Amniocenteses and the alpha-fetoprotein screening programme. Lancet I:39–40
Fineman RM, Jorde LB, Martin RA, Hasstedt SJ, Wing SD, Walker ML (1982) Spinal dysraphia as an autosomal dominant defect in four families. Am J Med Genet 12:457–464
Fraser FC, Czeizel A, Hanson C (1982) Increased frequency of neural tube defects in sibs of children with other malformations. Lancet II:144–145
Fuhrmann W (1981) Pränatale Diagnostik genetischer Defekte. Dtsch Ärzteblatt 78:1339–1346
Fuhrmann W (1983) Die Alpha-Fetoproteinbestimmung in der pränatalen Diagnostik und Vorsorge. Diagn Intensivtherapie 6:1
Fuhrmann W, Weitzel H (1984) Früherkennung und Prävention von Anenzephalie und Myelomeningozele durch Alphafetoprotein-Konzentrations-Bestimmung im Serum Gravider. BPT-Bericht 3/84, Gesellschaft für Strahlen-und Umweltforschung mbH, München
Fuhrmann W, Seeger W, Böhm R (1971) Apparently monogenic inheritance of anencephaly and spina bifida in a kindred. Humangenetik 13:241–243
Fuhrmann W, Jovanović V., Rauskolb R, Haas-Andela H, Bleyl H (1979) AFP determination in prenatal diagnosis of neural tube defects. In: Weitzel HK, Schneider J (eds) AFP in clinical medicine. Georg Thieme Verlag, Stuttgart, pp 7–14
Gardner S, Burton BK, Johnson AM (1981) Maternal serum alpha-fetoprotein screening: a report of the Forsyth County project. Am J Obstet Gynecol 140:250–253
Gitlin D, Boesman M (1966) Serum alpha-fetoprotein, albumin and globulin in the human conceptus. J Clin Invest 45:1826–1838
Glass N, Cove AR (1978) Cost effectiveness of screening for neural tube defects. In: Scrimgeour JB (ed) Toward the prevention of fetal malformation. Edinburgh University Press, Edinburgh, pp 217–223
Goldie DJ, Holton JB (1980) Screening for neural tube defects. Lancet I:487
Gomez MR (1981) Possible teratogenicity of valproic acid. J Pediatr 98:508
Gordon YB, Lewis JD, Leighton M, Kitau MJ, Clarke PC, Chard T, (1979) Maternal serum alpha-fetoprotein levels as an index of fetal risk. Am J Obstet Gynecol 133:422–424
Grace HJ (1981) Prenatal screening for neural tube defects in South Africa. S Afr Med J 60:324
Grob PJ (1978) Pränatales Alpha-Fetoprotein-Screening für Neural-leistendefekte. Schweiz Med Wochenschr 108:1302–1307
Grob PJ (1983) Personal communication
Guibaud S, Bonnet-Capela M, German D, Dumont M, Thoulon JM, Berland M (1984) Prenatal screening for Down syndrome. Lancet I:1359–1360
Gutzwiller F, Grob P, Hinselmann M, Schmid H, Sidiropoulos D (1981) Pränatales Alpha-Fetoprotein und Neuralleistendefekte: Evaluation einer neuen Screening-Methode. Méd Soc Préventive 26:216–228
Haas-Andela H, Altland K, Hackler R, Fuhrmann W (1980) Pränatale Diagnostik von Neuralrohrdefekten durch elektrophoretische Darstellung von Acetylcholinesterase aus Fruchtwasser. Elektrophorese Forum 80, Technische Universität, München
Haddow JE (1978) Ethical problems of screening for neural tube defects. Lancet II:527
Haddow JE (1983) Personal communication
Haddow JE, Miller WA (1982) Prenatal diagnosis of open neural tube defects. Methods Cell Biol 26:67–94
Haddow JE, Wald NJ (eds) (1981) Alpha-fetoprotein screening—The current issues, Report of the Third Scarborough Conference. The Foundation for Blood Research, Scarborough, Maine
Haddow JE, Kloza EM, Smith DE, Knight GJ (1983) Data from an alpha-fetoprotein pilot screening program in Maine. Obstet Gynecol 62:556–560
Hagard S, Carter F, Milne RG (1976) Screening for spina bifida cystica. A cost-benefit analysis. Br J Soc Prev Med 30:40
Hagenfeldt L (1983) Personal communication
Hammerton JL, Simpson NE (1980) Prenatal diagnosis, post, present and future. Report of an International Workshop held at Val David, Quebec, 4–8.11.1979. In: Prenatal diagnosis. Special Issue, 1980. John Wiley and Sons, Chichester New York Brisbane Toronto
Hansmann M, Gembruch U (1984) Gezielte sonographische Ausschlußdiagnostik fetaler Fehlbildungen in Risikogruppen. Gynäkologe 17: 19–32
Harper ME, Dugaiczyk A (1983) Linkage of the evolutionarily related serum albumin and alpha-fetoprotein genes within q11-22 of human chromosome 4. Am J Hum Genet 35:565–572
Harris R, Read AP (1981) Declining incidence of neural tube defects. Lancet II:1415
Harris R, Jennison RF, Barson AJ, Laurence KM, Ruoslathi E, Sepälä M (1974) Comparison of amniotic fluid and maternal serum alpha-fetoprotein levels in the early antenatal diagnosis of spina bifida and anencephaly. Lancet I:429–433
Hemmer R, Weissenfeld E, Hänsel-Friedrich G, Friedrich H (1977) Körperliche und geistige Entwicklung nach Frühoperation der Myelocelen. Neurochirurgie 20:7–19
Hino M, Koki Y, Nishi S (1972) Cited after Wald and Cuckle, U.K. collaborative study, 1977. Igaku No Ayumi 82:512–515
Hook EB (1983) Problems in interpretation of reported birth prevalence rates of neural tube defects. Teratology 27:125–126
Hooker JG, Lucas M, Richards BA, Shirley IM, Thompson BD, Ward RHT (1984) Is maternal alpha-fetoprotein screening still of value in a low risk area for neural tube defects? Prenatal Diagn 4:29–34
Hoppe B (1983) Komplikationen nach Amniozentesen unter besonderer Berücksichtigung des Anstiegs der HbF-Zellen im mütterlichen Blut. Diss Hannover
Houlsby WT (1984) Maternal serum AFP as screening test for Down syndrome. Lancet I:1127
Howard FM, Till K, Carter CO (1981) A family study of hydrocephalus resulting from aqueduct stenosis. J Med Genet 18:252–255
Hunter WM, Raab G (1980) Screening for neural tube defects. Lancet I:824
James WH (1981) Recurrence rates for neural tube defects and vitamin supplementation. J Med Genet 18:249–251
Janerich DT, Piper J (1978) Shifting genetic patterns in anencephaly and spina bifida. J Med Genet 15:101–105
Khoury MJ, Erickson JD, James LM (1982) Etiologic heterogeneity of neural tube defects. II. Clues from family studies. Am J Hum Genet 34:980–987
Kimball ME, Milunsky A, Alpert E (1977) Prenatal diagnosis of neural tube defects. III. A re-evaluation of alpha-fetoprotein assay. Obstet Gynecol 49:532–536
Kjessler B, Johansson SGO (1977) Monitoring of the development of early pregnancy by determination of alpha-fetoprotein in maternal serum and amniotic fluid samples. Acta Obstet Gynecol Scand [Suppl] 69:5
Kjessler B, Johansson SGO, Sherman MS, Gustavson KH, Hultquist G (1975) Alpha-fetoprotein in antenatal diagnosis of congenital nephrosis. Lancet I:432
Kjessler B, Johansson SGO, Lodbjörk G, Sherman MS (1977) Alpha-fetoprotein (AFP) levels in maternal serum in relation to pregnancy outcome in 7158 pregnant women prospectively investigated during their 14th–20th week post last menstrual period. Acta Obstet Gynecol Scand [Suppl] 69:25–44
Kleijer WJ, De Bruiyn HWA, Leschot NJ (1978) Amniotic fluid alpha-fetoprotein levels and the prenatal diagnosis of neural tube defects. A collaborative study of 2180 pregnancies in the Netherlands. Br J Obstet Gynaecol 85:512
Koch M, Fuhrmann W (1984a) Epidemiology of neural tube defects in Germany. A review. Hum Genet 68:97–103
Koch M, Fuhrmann W (1984b) Neural tube defects in sibs of probands. A study in Western Germany. Hum Genet (to be published)
Körner H, Horn A (1983) Personal communication
Kolata GB (1980) Prenatal diagnosis of neural tube defects. Science 209:1216–1218
Landy HJ, Keith L, Keith D (1982) The vanishing twin. Acta Genet Med Gemellol (Roma) 31:179–194
Lange AP, Hebjørn S, Moth I, Fuglsang E, Hasch E, Bruun-Petersen G, Nørgaard-Pedersen B (1979) Twin fetus papyraceus and alpha-fetoprotein: a clinical dilemma. Lancet II:636
Laurence KM (1979) Antenatal diagnosis in high-risk pregnancies and pregnancy screening for central nervous system malformation. In: Weitzel KH, Schneider J (eds) AFP in clinical medicine. Georg Thieme Verlag, Stuttgart, pp 20–29
Laurence KM, James N, Miller MH, Tennant GB, Campbell H (1981) Double-blind randomised control trial of folate treatment before conception to prevent recurrence of neural tube defects. Br Med J 282:1509–1511
Layde PM, von Allem S, Milne RG (1979) Maternal serum alpha-fetoprotein screening: a cost-benefit analysis. Am J Public Health 69:566
Leek AE, Ruoss CF, Kitau MJ, Chard T (1973) Raised alpha-fetoprotein in maternal serum with anencephalic pregnancy. Lancet II:385
Leighton PC, Gordon YB, Kitau MJ, Leek AE, Chard T (1975) Levels of alpha-fetoprotein in maternal blood as a screening test for fetal neural tube defect. Lancet II:1012
Leonard CO (1981) Serum AFP screening for neural tube defects. Clin Obstet Gynecol 24:1121
Lidbjörk G, Kjessler B, Johansson SGO (1977) Alpha-fetoprotein (AFP) levels in maternal serum in early multiple pregnancies. Acta Obstet Gynecol Scand [Suppl] 69:45–49
Lorber J (1978) Der Rückschlag des Pendels bei der Behandlung der Myelomeningocele. Monatsschr Kinderheilkd 126:9–13
Los FJ, de Wolf BTHM, Juisjes HJ (1979) Raised maternal serum-alpha-fetoprotein levels and spontaneous fetomaternal transfusion. Lancet II:1210–1212
Macri JN, Weiss RR (1982) Prenatal serum alpha-fetoprotein screening for neural tube defects. Obstet Gynecol 59:633–639
Martin RA, Fineman RM, Jorde LB (1983) Phenotypic heterogeneity in neural tube defects: a clue to causal heterogeneity. Am J Med Genet 16:519–525
Medical Research Council (1977) Diagnosis of genetic disease by amniocentesis during the second trimester of pregnancy. A Canadian study. Report No. 5. Minister of Supply and Services, Canada, Ottawa
Milunsky A, Wald N, Brock DJH, Dallaire L, Davidson R, Ferguson-Smith MA, Fuhrmann W, Haddow J, Macri J, Winsor E (1980) Prenatal screening and diagnosis of open neural tube defects. Prenatal Diagn [Special issue]:23–28
Milunsky A, Alpert L, Kitzmiller JL, Younger MD, Neff RK (1982) Prenatal diagnosis of neural tube defects. VIII. The importance of serum alpha-fetoprotein in diabetic pregnant women. Am J Obstet Gynecol 142:1030–1032
Mizejeski GJ, Phillips L, Stoll W (1981) In vitro studies of the abortogenic potential of antiserum to alpha-fetoprotein. Immunopharmacology 3:87
Morinaga T, Sakai M, Wegmann TG, Tamaoki T (1983) Primary structures of human alpha-fetoprotein and its mRNA. Proc Natl Acad Sci USA 80:4606–4608
Myrianthopoulos NC (1978) Congenital malformations: the contribution of twin studies. Birth Defects 14:151–165
Myrianthopoulos NC (1979) Our load of central nervous system malformations. In: Birth Defects OAS, vol XV, No 3:1–18
Myrianthopoulos NC (1961) Letter to the editor: Incidence and prevalence in human genetics. Am J Hum Genet 13:285–286
Naggan L, MacMahon B (1967) Ethnic differences in the prevalence of anencephaly and spina bifida in Boston, Massachusetts. N Engl J Med 277:1119
Nevin NC, Armstrong MJ (1975) Raised alpha-fetoprotein levels in amniotic fluid and maternal serum in a triplet pregnancy in which one fetus had an omphalocele. Br J Obstet Gynecol 82:826–828
Nevin NC, Harley JMG (1976) Clomiphene and neural tube defects. Ulster Med J 45:1
Nevin NC, Johnston WP (1980) The risk of recurrence of CNS malformations after two affected children. Am J Med Genet 5:216
Nevin NC, Ritchie A, McKeown F, Roberts G (1978) Raised alphafetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra. J Med Genet 15:61–63
NICHD National Registry for amniocentesis study group (1976) Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 236:1471
Nørgaard-Pedersen B (1983) Personal communication
Nørgaard-Pedersen B, Jensen S, Wandrup J (1982) Identification of acetylcholinesterase and cholinesterase in amniotic fluid by immune absorption technique. Prenatal Diagn 2:257–264
Opitz JM, Gilbert EF (1982) CNS anomalies and the midline as a “developmental field”. Am J Med Genet 12:443–455
Pelz L, Hille JM (1977) Familiäres Vorkommen dorsaler Schlußstörungen des Neuralrohres. Kinderärztl Prax 45:219–225
Persson PH, Kullander S, Gennser G, Grennert L, Laurell CB (1983) Screening for fetal malformations using ultrasound and measurement of alpha-fetoprotein in maternal serum. Br Med J 286:747–749
Polanska N, Meade BW, Williams DL, Orr H (1981) Maternal alphafetoprotein screening. Br Med J 283:1604–1605
Regenbrecht J (1984) Spätergebnisse nach Operationen bei Meningomyelocelen. Monatsschr Kinderheilkd 132:396–398
Ringeling H (1981a) Die schweizerische Alpha-1-Fetoproteinstudie —Ethische Aspekte. Méd Soc Prév 26:234–236
Ringeling H (1981b) Ethische Aspekte des AFP-Screening. Schweiz Ärztezeitung 62:1394–1397
Robert E, Guibaud P (1982) Maternal valproic acid and congenital neural tube defects. Lancet II:937
Roberts CJ, Hibbard BM, Elder GH, Evans KT, Laurence KM, Roberts A, Woodhead JS, Robertson IB, Hoole M (1983a) The efficacy of a serum screening service for neural tube defects: the South Wales experience. Lancet I:1315
Roberts CJ, Hibbard BM, Roberts EE, Evans KT, Laurence KM, Robertson IB (1983b) Diagnostic effectiveness of ultrasound in detection of neural tube defect. Lancet II:1068–1069
Robertson RD, Sarti DA, Brown WJ, Crandall BF (1981) Congenital hydrocephalus in two pregnancies following the birth of a child with a neural tube defect: etiology and management. J Med Genet 18:105–107
Robinson HP, Hood VD, Adam AH, Gibson AAM, Ferguson-Smith MA (1980) Diagnostic ultrasound: early detection of fetal neural tube defects. Obstet Gynecol 56:705
Rodeck CH, Campbell S, Biswas S (1976) Maternal plasma alphafetoprotein in normal and complicated pregnancies. Br J Obstet Gynaecol 83:24–32
Romijn JA, Treffers PE (1983) Anencephaly in the Netherlands: a remarkable decline. Lancet I:64–65
Ruoslahti E, Seppälä M (1979) Alpha-fetoprotein in cancer and fetal development. Adv Cancer Res 29:275
Ruoslahti E, Pekkala A, Comings DE, Seppälä M (1979) Determination of subtractions of amniotic fluid alpha-fetoprotein in diagnosing spina bifida and congenital nephrosis. Br Med J 2:768–769
Ryynänen M, Seppälä M, Kuusela P, Rapola J, Aula P, Seppä A, Jokela V, Castren O (1983) Antenatal screening for congenital nephrosis in Finland by maternal serum alpha-fetoprotein. Br J Obstet Gynaecol 90:437–442
Sadovnick AD, Baird PA (1983) A cost-benefit analysis of a population screening programme for neural tube defects. Prenatal Diagnosis 3:117–126
Seller MJ (1981a) Recurrence risks for neural tube defects in a genetic counselling clinic population. J Med Genet 18:245–248
Seller MJ (1981b) Letter to the Editor. Br Med J 283:1262
Seller MJ (1984) Prenatal screening for Down syndrome. Lancet I:1359
Seller MJ, Child AH (1980) Raised maternal serum alpha-fetoprotein, oligohydramnions and the fetus. Lancet I:317–318
Seppälä M (1983) Personal communication
Seppälä M, Aula P, Rapola J, Karjalainen O, Huttunen NP, Ruoslahti E (1976) Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of amniotic fluid and maternal serum alpha-fetoprotein. Lancet II:123–125
Seppälä M, Tanta T, Garoff L, Lindgren J (1979) Alpha-fetoprotein in obstetrics and gynecology. In: Weitzel HK, Schneider J (eds) Alpha-fetoprotein in clinical medicine. Georg Thieme Verlag, Stuttgart, pp 47–51
Sever LE (1981) Caution on preventing neural tube defects. Br Med J 283:1605
Sever LE (1982) An epidemiologic study of neural tube defects in Los Angeles County. II. Etiologic factors in an area with low prevalence at birth. Teratology 25:323–334
Sever LE (1983) Fetal deaths, stillbirths, and the prevalence of neural tube defects. Teratology 27:127–128
Sever LE, Sander M, Monsen R (1982) An epidemiologic study of neural tube defects in Los Angeles County. I. Prevalence at birth based on multiple sources of case ascertainment. Teratology 25: 315–321
Singer JD (1976) Ethical and social problems of prenatal diagnosis. In: Boué A (ed) Prenatal diagnosis. Paris, INSERM 1976, p 291
Smith AD, Wald NJ, Cuckle HS, Stirrat GM, Bobrow M, Langercrantz H (1979) Amniotic fluid acetylcholinesterase as a possible diagnostic test for neural-tube defects in early pregnancy. Lancet I:685
Smith ML (1979) Raised maternal serum alpha-fetoprotein levels and low birth weight babies. Br J Obstet Gynaecol 87:1099–1102
Smithells RW (1984) Rational use of vitamins. Lancet I:1295
Smithells RW, Sheppard S, Schorah CJ, Nevin NC, Seller MJ (1981a) Trial of folate treatment to prevent recurrence of neural tube defect. Br Med J 283:1793
Smithells RW, Sheppard S, Schorah CJ, Seller MJ, Nevin NC, Harris R, Read AP, Fielding DW (1981b) Apparent prevention of neural tube defects by periconceptional vitamin supplementation. Arch Dis Child 56:911–918
Smithells RW, Nevin NC, Seller MJ, Harris R, Read AP, Fielding DW, Walker S, Schorah CJ, Wild J (1983) Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet I:1027–1031
Sowers SG, Burton BK (1982) The clinical significance of low maternal serum alpha-fetoprotein in obstetric practice. Birth Defects 18:181–184
Schnittger A (1983) Alpha-fetoprotein screening in obstetric practice. Linkoping University Medical Dissertations No 154. Linkoping, Sweden
Schnittger A, Kjessler B (1984) Alpha-fetoprotein screening in obstetric practice. Acta Obstet Gynecol Scand [Suppl] 119
Standing SJ, Brindle MJ, McDonald AP, Lacey RW (1981) Maternal alpha-fetoprotein screening: two years experience in a low-risk district. Br Med J 283:705–707
Stein SC, Feldman JG, Friedlander M, Klein RJ (1982) Is myelomeningocele a disappearing disease? Pediatrics 69:511–514
Stephenson SR, Waver DD (1981) Prenatal diagnosis—a compilation of diagnosed conditions. Am J Obstet Gynecol 141:319
Stewart CR, Ward AM, Lorber J (1975) Amniotic fluid alpha-1-fetoprotein in the diagnosis of neural tract malformations. Br J Obstet Gynaecol 82:257
Stirrat GM, Turnbull AC, Bennett MJ, Bobrow M, Wald NJ, Cuckle HS (1979) Clinical dilemma arising from the antenatal diagnosis of neural tube defects. Br J Obstet Gynaecol 86:161–166
Toftagar-Larsen K, Petersen PL, Nørgaard-Pedersen B (1981) Maternal serum alpha-fetoprotein in the diagnosis of hydatiform mole. Dan Med Bull 28:123
Vince JD, McManus TJ, Ferguson-Smith MA, Ratcliffe JG (1975a) A semi-automated serum alpha-fetoprotein radioimmunoassay for prenatal spina bifida screening. Br J Obstet Gynaecol 82:718
Vince JD, McManus TJ, Ferguson-Smith MA, Ratcliffe JG (1975b) Prenatal screening for spina bifida. Scott Med J 20:180
Wacheck W (1981) Status quo of AFP screening for the detection of neural-tube defects in different European countries. Clin Genet 20:399
Wald NJ (1983) Personal communication
Wald NJ, Cuckle HS (1978) Screening for neural-tube defects. Lancet I:495
Wald NJ, Cuckle HS (1979) Antenatal screening for neural tube defects. In: Weitzel HK, Schneider J (eds) AFP in clinical medicine. Georg Thieme Verlag, Stuttgart, pp 29–34
Wald NJ, Cuckle HS (1981a) Raised maternal serum alpha-fetoprotein levels in subsequent pregnancies. Lancet I:1103
Wald NJ, Cuckle HS (1981b) Pränatale Diagnostik von Neuralrohrdefekten. Laboratoriumsblätter 31, No 1. Medizinische Verlagsgesellschaft, Marburg
Wald NJ, Brock DJH, Bonnar J (1974) Prenatal diagnosis of spina bifida and anencephaly by matérnal serum alpha-fetoprotein measurement. Lancet I:765
Wald NJ, Barker S, Peto R, Brock DJH, Bonnar J (1975) Maternal serum alpha-fetoprotein levels in multiple pregnancy. Br Med J I:651
Wald NJ, Cuckle H, Stirrat GM, Bennett MJ, Turnbull AC (1977) Maternal serum alpha-fetoprotein and low birth-weight. Lancet II:268
Wald NJ, Cuckle HS, Brock DJH, Polani PE (1978) Screening for neural-tube defects. Lancet II:216–217
Wald NJ, Cuckle HS, Peck S, Stirrat GM, Turnbull AC (1979a) Maternal serum alpha-fetoprotein in relation to zygosity. Br Med J 1:455
Wald NJ, Cuckle HS, Boreham J, Brett R, Stirrat GM, Bennett MJ, Turnbull AC, Solymar M, Jones N, Borrow M, Evans CJ (1979b) Anternatal screening in Oxford for fetal neural tube defects. Br J Obstet Gynaecol 86:91–100
Wald NJ, Cuckle HS, Boreham J, Stirrat GM, Turnbull AC (1979c) Maternal serum alpha-fetoprotein and diabetes mellitus. Br J Obstet Gynaecol 86:101–105
Wald NJ, Cuckle HS, Barlow RD, Smith AD, Stirrat GM, Turnbull AC, Bobrow M, Brock DJH, Stein SM (1980a) Early antenatal diagnosis of exomphalos. Lancet I:1368
Wald NJ, Cuckle HS, Boreham J, Turnbull AC (1980b) Maternal serum alpha-fetoprotein and birth weight. Br J Obstet Gynaecol 87:860–863
Wald NJ, Cuckle HS, Catz C, Dayton D, Reimer CB (1981) Alphafetoprotein screening and diagnosis of fetal open neural-tube defects: the need for quality control. Am J Obstet Gynecol 141:1–4
Wald NJ, Cuckle HS, Boreham J, Turnbull AC (1982) Effect of estimating gestational age by ultrasound cephalometry on the specificity of alpha-fetoprotein screening for open neural-tube defects. Br J Obstet Gynaecol 89:1050–1053
Ward RHT, Fairweather DVI, Whyley GA, Shirley IM, Lucas M (1981) Four years experience of maternal alpha-fetoprotein screening and its effect on the pattern of antenatal care. Prenatal Diagn 1:91–101
Warkany J (1971) Congenital malformations. Year Book Medical Publishers, Chicago
Weitzel H (1978) Die pränatale Diagnostik neuraler Dysraphien durch alpha-Fetoproteinbestimmung. In: Murken J-D, Stengel-Rutkowski S (eds) Pränatale Diagnostik. Enke-Verlag, Stuttgart, pp 82–96
Weitzel H (1983) Die alpha-Fetoproteindiagnostik in der Gebrutshilfe. Arch Gynecol 235:419
Weitzel H, Schumann K (1980) Pränatale Diagnostik von Neuralrohrdefekten mit Hilfe der AFP-Bestimmung. Ärztl Lab 26:195
Weitzel H, Schumann K, Schneider J (1970) Pränatale Diagnostik angeborener Fehlbildungen durch Alpha-Fetoproteinbestimmung. Fortschr Med 97:1005
Williamson EM (1965) Incidence and family aggregation of major congenital malformation of central nervous system. J Med Genet 2:161
Windham GC, Bjerkedal T, Sever LE (1982) The association of twinning and neural tube defects: studies in Los Angeles, California, and Norway. Acta Genet Med Gemellol (Roma) 31:165–172
Windham GC, Sever LE (1982) Neural tube defects among twin births. Am J Hum Genet 34:988–998
Windham GC, Bjerkedal T (1984) Malformations in twins and their siblings, Norway, 1967–1979. Acta Genet Med Gemellol (Roma) 33:87–95
Woolfson J, Holt EM, Whyman AE, Mabbs DV (1979) Maternal serum alpha-fetoprotein screening in a provincial health district. Br J Obstet Gynaecol 86:87–90
Yachmin S, Lester EP (1977) Inhibition of human lymphocyte transformation by human AFP. J Immunol 119:555
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Fuhrmann, W., Weitzel, H.K. Maternal serum alpha-fetoprotein screening for neural tube defects. Hum Genet 69, 47–61 (1985). https://doi.org/10.1007/BF00295529
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DOI: https://doi.org/10.1007/BF00295529