{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T18:20:09Z","timestamp":1761675609669,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,12]]},"abstract":"<jats:p>As part of an investigation into the practical problems of a maternal serum alphafetoprotein (AFP) neural tube defect (NTD) screening programme carried out in Mid Glamorgan, South Wales, between 1977 and 1979, obstetricians were recommended to refer women with high risk pregnancies directly for counselling, high resolution ultrasonography, and amniocentesis without first carrying out serum screening. Out of 15 687 pregnant women one-third attended too late to be screened. A total of 637 was classed as high risk, mostly at greater risk than 1 in 50 because of a previously affected pregnancy or an affected close relative. Compliance with recommended procedure was relatively low as many were screened. There were 10 pregnancies with a recurrence of NTD, of which one was not tested at all, two were not detected (one closed meningocele and one closed iniencephalic), and seven were detected and the pregnancies terminated. All the latter, as well as the iniencephalic, would have been detected from a serum AFP determination and a high resolution ultrasound scan alone. It is concluded that these investigations are sufficient for high risk pregnancies and that amniocentesis is not really cost effective or necessary unless either of these investigations is abnormal. As numbers in this study were small it is suggested that these conclusions should be tested in a larger study.<\/jats:p>","DOI":"10.1136\/jmg.22.6.457","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"457-461","source":"Crossref","is-referenced-by-count":4,"title":["Should women at high risk of neural tube defect have an amniocentesis?"],"prefix":"10.1136","volume":"22","author":[{"given":"K M","family":"Laurence","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Elder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K T","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B M","family":"Hibbard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Hoole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C J","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,12,1]]},"reference":[{"key":"ref_1","first-page":"231","article-title":"Genetics and prevention of neural tube defects","volume-title":"Principles and practice of medical genetics. Vol 1","author":"Laurence, K.M.","year":"1983","unstructured":"Laurence KM. Genetics and prevention of neural tube defects. In: Emery AEH, Rimoin DL, eds. Principles and practice of medical genetics. Vol 1. Edinburgh: Churchill Livingstone, 1983: 231-45."},{"key":"ref_2","first-page":"1323","article-title":"UK Collaborative Study on Alpha-fetoprotein in Relation to Neural Tube Defects. Maternal serum alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy","volume":"i:","year":"1977","unstructured":"UK Collaborative Study on Alpha-fetoprotein in Relation to Neural Tube Defects. Maternal serum alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Lancet 1977;i:1323-32. The Working Group on Screening for Neural Tube Defects. Report by the working group on screening for neural tube defects. (Black report.) London: DHSS, 1979.","journal-title":"Lancet; The Working Group on Screening for Neural Tube Defects. Report by the working group on screening for neural tube defects. (Black report"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/S0140-6736(83)92424-8","article-title":"The efficacy of a serum screening service for neural tube defects; the South Wales experience","volume":"i:","author":"Roberts, C.J.; Hibbard, B.M.; Elder, G.H.","year":"1983","unstructured":"Roberts CJ, Hibbard BM, Elder GH, et al. The efficacy of a serum screening service for neural tube defects; the South Wales experience. Lancet 1983;i:1315-8.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.5.2.81","article-title":"A family study of central nervous system malformations in South Wales","volume":"5","author":"Carter, C.O.; David, P.A.; Laurence, K.M.","year":"1968","unstructured":"Carter CO, David PA, Laurence KM. A family study of central nervous system malformations in South Wales. J Med Genet 1968;5:81-106.","journal-title":"J Med Genet"},{"key":"ref_5","first-page":"981","article-title":"Precision in estimating gestational age and its influence on sensitivity of alpha-fetoprotein screening","volume":"i:","author":"true","year":"1979","unstructured":"Roberts CJ, Hibbard BM, Evans DR, et al. Precision in estimating gestational age and its influence on sensitivity of alpha-fetoprotein screening. Br Med J 1979;i:981-3.","journal-title":"Br Med J"},{"key":"ref_6","first-page":"1068","article-title":"Diagnostic effectiveness of ultrasound in detection of neural tube defect: the South Wales experience of 2509 scans (1977-1982) in high risk mothers","volume":"ii:","author":"Roberts, C.J.; Evans, K.T.; Hibbard, B.M.; Laurence, K.M.; Roberts, E.E.; Robertson, I.B.","year":"1983","unstructured":"Roberts CJ, Evans KT, Hibbard BM, Laurence KM, Roberts EE, Robertson IB. 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Br J Obstet Gynaecol 1982;89:218-21.","journal-title":"Br J Obstet Gynaecol"},{"key":"ref_9","first-page":"163","article-title":"Anxiety during a crisis: emotional effects of screening for neural tube defects","volume":"28","author":"Robinson, J.O.; Hibbard, B.M.; Laurence, K.M.","year":"1984","unstructured":"Robinson JO, Hibbard BM, Laurence KM. Anxiety during a crisis: emotional effects of screening for neural tube defects. J Psychol Res 1984;28:163-9.","journal-title":"J Psychol Res"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/pd.1970010110","article-title":"The effect of the introduction of prenatal diagnosis on the reproductive history of women at increased risk for neural tube defects","volume":"1","author":"lLaurence KM; J, Morris","year":"1981","unstructured":"lLaurence KM, Morris J. The effect of the introduction of prenatal diagnosis on the reproductive history of women at increased risk for neural tube defects. Prenatal Diagnosis 1981;1:51-60.","journal-title":"Prenatal Diagnosis"},{"key":"ref_11","article-title":"Report of the South Wales Anencephaly and Spina Bifida Study Group","author":"Roberts, A.","year":"1981","unstructured":"Roberts A. Report of the South Wales Anencephaly and Spina Bifida Study Group, 1981 (unpublished)."},{"key":"ref_12","first-page":"185","article-title":"Genetic counselling during pregnancy for couples at high risk for neural tube defect: is this the optimum time to attend?","volume":"1","author":"Carter, J.; Laurence, K.M.","year":"1984","unstructured":"Carter J, Laurence KM. Genetic counselling during pregnancy for couples at high risk for neural tube defect: is this the optimum time to attend? Biol Soc 1984;1:185-92.","journal-title":"Biol Soc"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1136\/bmj.282.6274.1416-a","article-title":"Read AP. New uncertainties in prenatal screening for neural tube defect","volume":"282","author":"Harris, R.","year":"1981","unstructured":"Harris R, Read AP. New uncertainties in prenatal screening for neural tube defect. 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