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Techniques in Current Use in Prenatal Diagnosis

Published online by Cambridge University Press:  10 March 2009

Lyn S. Chitty  and
Martin Bobrow
Lyn S. Chitty
Affiliation:
Guy's and St. Thomas's Hospitals
Martin Bobrow
Affiliation:
Guy's and St. Thomas's Hospitals
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Abstract

Prenatal diagnosis is now offered to the majority of pregnant women in Europe and the United States. Advances in obstetric and laboratory techniques mean that increasing numbers of conditions can be diagnosed prenatally; indeed, gene carriers can be identified before pregnancy in some cases. Current obstetric and laboratory techniques for prenatal screening and diagnosis of genetic disorders are discussed.

Type
Special Section: Genetic Technology
Information
International Journal of Technology Assessment in Health Care , Volume 10 , Issue 4 , Fall 1994 , pp. 604 - 627
Copyright
Copyright © Cambridge University Press 1994

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References

REFERENCES

1.Adinolfi, M.C. Fetal nucleated cells in the maternal circulation. In Brock, D. J. H., Rodeck, C. H., & Ferguson-smith, M. A. (eds.), Prenatal diagnosis and screening. London: Churchill Livingstone, 1992, 651–60.Google Scholar
2.Adinolfi, M. C., Davies, A., Sharif, S. et al. , Detection of trisomy 18 and Y-derived sequences in fetal nucleated cells obtained by transcervical flushing. Lancet, 1993, 342, 403–4.Google Scholar
3.Angastiniotis, M.Cyprus: Thalassaemia programme. Lancet, 1990, 336, 1119–20.CrossRefGoogle Scholar
4.Bakketreig, L. S., Eik-Nes, S. H., Jacobsen, G. et al. , Randomised controlled trial of ultrasonographic screening in pregnancy. Lancet, 1984, ii, 207–11.CrossRefGoogle Scholar
5.Bekker, H., Modell, M., Denniss, G. et al. , Uptake of cystic fibrosis testing in primary care: Supply push or demand pull? British Medical Journal, 1993, 306, 1584–86.CrossRefGoogle ScholarPubMed
6.Benacerraf, B. R., Prenatal sonography of autosomal trisomies. Ultrasound in Obstetrics and Gynecology, 1991, 1, 66–75.CrossRefGoogle ScholarPubMed
7.Benacerraf, B. R., Gelman, R., & Frigoletto, F. D.Sonographic identification of second trimester fetuses with Down’s syndrome. New England Journal of Medicine, 1987, 317, 1371–76.CrossRefGoogle ScholarPubMed
8.Benacerraf, B. R., Miller, W. A., & Frigoletto, F. D.Sonographic detection of fetuses with trisomies 13 and 18: Accuracy and limitations. American Journal of Obstetrics and Gynecology, 1988, 158, 404–09.CrossRefGoogle ScholarPubMed
9.Bennett, M. J., Little, G., Dewhurst, J., & Chamberlain, G.Predictive value of ultrasound measurements in early pregnancy: A randomised controlled trial. British Journal of Obstetrics and Gynaecology, 1982, 89, 338–41.Google Scholar
10.Berry, A. C., Docherty, Z., & Bobrow, M.Abnormal chromosome complement after normal amniocentesis result. Lancet, 1992, 340, 1361.CrossRefGoogle ScholarPubMed
11.Berry, E., Aitken, D. A., Crossley, J. A., & Connor, J. M.Biochemical screening for chromosome abnormalities: Five years experience of routine screening in the west of Scotland. Journal of Medical Genetics, 1993, 30, 339.Google Scholar
12.Bianchi, D. W, Zickwolf, G. K., Yih, M. C. et al. , Erythroid-specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood. Prenatal Diagnosis, 1993, 13, 293–300.CrossRefGoogle ScholarPubMed
13.Blakemore, K. J., Samuelson, J., Breg, W. R., & Mahoney, M. J.Maternal metaphases on direct chromosome preparation of the first trimester decidua. Human Genetics, 1985, 69, 380.CrossRefGoogle ScholarPubMed
14.Brambati, B., Simoni, G., Travi, M. et al. , Genetic diagnosis by chorionic villus sampling before 8 weeks gestational age: Efficiency, reliability, and risks on 317 completed pregnancies. Prenatal Diagnosis, 1992, 12, 789–99.Google Scholar
15.Brambati, B., Terzian, E., & Tognoni, G.Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods. Prenatal Diagnosis, 1991, 11, 285–93.CrossRefGoogle ScholarPubMed
16.Bucher, H. C., & Schmidt, J. G.Does routine ultrasound scanning improve outcome in pregnancy? Meta-analysis of various outcome measures. British Medical Journal, 1993, 307, 13–17.Google Scholar
17.Callen, D. F., Korban, G., Dawson, G. et al. , Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling. Prenatal Diagnosis, 1988, 8, 453–60.Google Scholar
18. Campbell, J., personal communication.Google Scholar
19.Campbell, J., Gilbert, W. M., Nicolaides, K. H., & Campbell, S.Ultrasound screening for spina bifida: Cranial and cerebellar signs in a high-risk population. Obstetrics and Gynecology, 1987, 70, 247–53.Google ScholarPubMed
20.Canadian Collaborative CVS-Amniocentesis Clinical Trial Group. Multicentre randomised clinical trial of chorion villus sampling and amniocentesis. Lancet, 1989, i, 1–6.Google Scholar
21.Carstairs, V., & Cole, S.Spina bifida and anencephaly in Scotland. British Medical Journal, 1984, 289, 1182–84.CrossRefGoogle ScholarPubMed
22.Carter, C. O., David, P. A., & Laurence, K. M.A family study of major central nervous system malformations in South Wales. Journal of Medical Genetics, 1968, 5, 81–106.CrossRefGoogle ScholarPubMed
23.Carter, C. O., & Evans, K.Spina bifida and anencephaly in Greater London. Journal of Medical Genetics, 1973, 10, 209–34.CrossRefGoogle ScholarPubMed
24.Chitty, L. S., & Campbell, S. Ultrasound screening for fetal abnormalities. In Brock, D. J. H., Rodeck, C. H., & Ferguson-smith, M. A. (eds.), Prenatal diagnosis and screening London: Churchill Livingstone, 1992, 595–609.Google Scholar
25. Chitty, L. S., Campbell, S., & Nicolaides, K. H. Ultrasound screening in a population at high risk for neural tube defects. In preparation.Google Scholar
26.Chitty, L. S., Hunt, G. H., Moore, J., & Lobb, M. O.Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population. British Medical Journal, 1991, 303, 1165–69.CrossRefGoogle Scholar
27.de Crespigny, L. C., & Robinson, H. P.Amniocentesis: A comparison of ‘monitored’ versus ‘blind’ insertion technique. Australian and New Zealand Journal of Obstetrics and Gynaecology, 1986, 26, 124–28.Google Scholar
28.Crowe, C. A., Heuther, C. A., Oppenheimer, S. G. et al. , The epidemiology of spina bifida in South-Western Ohio — 1970–1979. Developmental Medicine and Child Neurology, 1985, 27, 176–82.CrossRefGoogle ScholarPubMed
29.Cuckle, H. S., Wald, N. J., Goodburn, S. F. et al. , Measurement of activity of urea resistant neutrophil alkaline phosphatase as an antenatal screening test for Down's syndrome. British Medical Journal, 1990, 301, 1024–26.Google Scholar
30.Cullen, M. T., Gabrielli, S., Green, J. J. et al. , Diagnosis and significance of cystic hygroma in the first trimester. Prenatal Diagnosis, 1990, 10, 643–51.Google Scholar
31.Daffos, F. Fetal blood sampling. In Harrison, M. R., Golbus, M. S., and Filly, R. A. (eds.), The unborn patient. Philadelphia, PA: W.B. Saunders, 1990, 75–81.Google Scholar
32.Daffos, F., Capella-Pavlovsky, M., & Forestier, F.Fetal blood sampling via the umbilical cord using a needle guided by ultrasound. Report of 66 cases. Prenatal Diagnosis, 1983, 3, 271–7.CrossRefGoogle ScholarPubMed
33.Dagenais, D. L., Courville, L., & Dagenais, M. G.A cost-benefit analysis of the Quebec network of genetic medicine. Social Science and Medicine, 1985, 20, 601–07.CrossRefGoogle Scholar
34.Delhanty, J. D. A., Driffin, D. K., Handyside, A. H. et al. , Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH). Human Molecular Genetics, 1993, 2, 1183–85.CrossRefGoogle ScholarPubMed
35.Donald, I., MacVicar, J., & Brown, T. G.Investigation of abdominal mass by pulsed ultrasound. Lancet, 1958, ii, 1188–95.CrossRefGoogle Scholar
36.Eichenbaum, S. Z., Krumins, E. J., Fortune, D. W., & Duke, J.False negative finding on chorionic villus sampling. Lancet, 1986, ii, 391.CrossRefGoogle Scholar
37.Eik-Nes, S. H., Okland, O., Aure, J. C., & Ulstein, M.Ultrasound screening in pregnancy: A randomised controlled trial. Lancet, 1984, i, 1347.CrossRefGoogle Scholar
38.Evans, M. I., Drugan, A., Koppitch, F. C. et al. , Genetic diagnosis in the first trimester: The norm for the 1990s. American Journal of Obstetrics and Gynecology, 1989, 160, 1332–39.CrossRefGoogle ScholarPubMed
39.Firth, H. V., Boyd, P. A., Chamberlain, P. et al. , Severe limb abnormalities after chorionic villus sampling at 56–66 days gestation. Lancet, 1991, 337, 762–63.Google Scholar
40.Fourth Report of the U.K. Collaborative Study on Alphafetoprotein 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. Journal of Epidemiology and Community Health, 1982, 36, 87–95.CrossRefGoogle Scholar
41.Galjaard, H. Advances in diagnosis of biochemical disorders. In Drife, J. O. & Donnai, D. (eds.), Antenatal diagnosis of fetal abnormalities. Berlin: Springer-Verlag, 1991, 183–98.Google Scholar
42.Geirsson, R. T.Ultrasound instead of last menstrual period as the basis of gestational age assignment. Ultrasound in Obstetrics and Gynecology, 1991, 1, 212–19.Google Scholar
43.Gill, M., Murday, V., & Slack, J.An economic appraisal of screening for Down's syndrome in pregnancy using maternal age and maternal serum alphafetoprotein. Social Science and Medicine, 1987, 24, 725–31.Google Scholar
44.Godmilow, L., Weiner, S., & Dunn, L. K.Early amniocentesis: Experience with 600 consecutive procedures and comparison with chorionic villus sampling. American Journal of Human Genetics, 1988, 43 (suppl.), A234.Google Scholar
45.Gosden, C., Nicolaides, K. H., & Rodeck, C.Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture. Lancet, 1988, i, 613–16.CrossRefGoogle Scholar
46.Grant, A., Ayers, S., Gosden, C., & Meade, T.Chorion villus sampling. Lancet, 1991, 338, 756.Google Scholar
47.Hackett, G. A., Smith, J. H., Rebello, M. T. et al. , Early amniocentesis at 11–14 weeks gestation for the diagnosis of fetal chromosomal abnormality — A clinical evaluation. Prenatal Diagnosis, 1991, 11, 311–15.Google Scholar
48.Haddow, J. E., Glenn, E., Palomaki, B. S. et al. , Prenatal screening for Down's syndrome with use of maternal serum markers. New England Journal of Medicine, 1992, 327, 588–93.Google Scholar
49.Hagard, S., & Carter, F. A.Preventing the birth of infants with Down's syndrome: A cost-benefit analysis. British Medical Journal, 1976, 1, 753–56.CrossRefGoogle ScholarPubMed
50.Hahnemann, N., & Mohr, J.Genetic diagnosis in the embryo by means of biopsy from extraembryonic membranes. Bulletin of the European Society of Human Genetics, 1968, 2, 23.Google Scholar
51.Handyside, A. H., Kontogianni, E. H., Hardy, K., & Winston, R. M. L.Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 1990, 344, 768–70.CrossRefGoogle ScholarPubMed
52.Handyside, A. H., Lesko, J. G., Tarin, J. J. et al. , Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. New England Journal of Medicine, 1992, 327, 905–09.CrossRefGoogle ScholarPubMed
53.Hanson, F. W., Happ, R. L., Tennant, F. R. et al. , Ultrasonography-guided early amniocentesis in singleton pregnancies. A merican Journal of Obstetrics and Gynecology 1990, 162, 1376–83.CrossRefGoogle ScholarPubMed
54.Hardy, K., & Handyside, A. H.Biopsy of cleavage stage human embryos and diagnosis of single gene defects by DNA amplification. Archives of Pathology and Laboratory Medicine, 1992, 116, 388–92.Google ScholarPubMed
55.Hardy, K., Martin, K. L., Leese, H. J. et al. , Human preimplantation development in vitro is not adversely affected by biopsy at the 8-cell stage. Human Reproduction, 1990, 5, 708–70.Google Scholar
56.Harris, H., Scotcher, D., Hartley, N. et al. , Cystic fibrosis carrier testing in early pregnancy by general practitioners. British Medical Journal, 1993, 306, 1580–83.Google Scholar
57.Henderson, J. B.Measuring the benefits of screening for open neural tube defects. Journal of Epidemiology and Community Health, 1982, 36, 214–19.CrossRefGoogle ScholarPubMed
58.Herrou, M., Leporrier, N., & Leymarie, P.Screening for fetal Down syndrome with maternal HCG and oestriol: A prospective study. Prenatal Diagnosis, 1992, 12, 887–92.Google Scholar
59.Hibbard, B. M., Roberts, C. J., Elder, G. H. et al. , Can we afford screening for neural tube defects? The South Wales experience. British Medical Journal, 1985, 290, 293–95.CrossRefGoogle ScholarPubMed
60.Hislop, A., Fairweather, D. V. I., Blackwell, R. J., & Howard, S.The effect of amniocentesis and drainage of amniotic fluid on the lung development in Macaca fascicularis. American Journal of Obstetrics and Gynecology 1984, 91, 835-42.Google Scholar
61.Hogge, W. A., Thiagarajah, S., Ferguson, J. E. et al. , The role of ultrasonography and amniocentesis in the evaluation of pregnancies at risk for neural tube defects. American Journal of Obstetrics and Gynecology, 1989, 161, 520–24.Google Scholar
62.Holding, C., Bentley, D., Roberts, R. et al. , Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. Journal of Medical Genetics, in press.Google Scholar
63.International Fetoscopy Group. The status of fetoscopy and fetal tissue sampling. Prenatal Diagnosis, 1984, 4, 79–81.CrossRefGoogle Scholar
64.Jackson, L., & the N.I.C.H.D. Collaborative CVS Study Group. Transcervical and transabdominal chorionic villus sampling are comparably safe procedures for first trimester prenatal diagnosis: Preliminary analysis. American Journal of Human Genetics, 1990, 47, A279.Google Scholar
65.Jurkovic, D., Jauniaux, E., Campbell, S. et al. , Coelocentesis: A new technique for early prenatal diagnosis. Lancet, 1993, 341, 1623–24.Google Scholar
66.Kuliev, A. M., Modell, B., Jackson, L. et al. , Risk evaluation of CVS. Prenatal Diagnosis, 1993, 13, 197–209.CrossRefGoogle ScholarPubMed
67.Laurence, K. M.Trends in the number of births with spina bifida. Journal of Medical Genetics, 1993, 30, 338.Google Scholar
68.Ledbetter, D. H., Martin, A. O., Verlinsky, Y. et al. , Cytogenetic results of chorionic villus sampling: High success rate and diagnostic accuracy in the United States collaborative study. American Journal of Obstetrics and Gynecology, 1990, 162, 495–501.CrossRefGoogle ScholarPubMed
69.Lorber, J., & Ward, A. M.Spina bifida-A vanishing nightmare? Archives of Disease in Childhood, 1985, 60, 1086–91.Google Scholar
70.Lowe, C. U., Alexander, D., Bryla, D., & Seigel, D.The NICHD Amniocentesis Registry. The safety and accuracy of mid-trimester amniocentesis. Washington, DC: U.S. Department of Health, Education, and Welfare, DHEW Publication No. (NIH) 78–190, 1978.Google Scholar
71.Luck, C. A.Value of routine ultrasonography scanning at 19 weeks: A four year study of 8849 deliveries. British Medical Journal, 1992, 304, 1474–78.Google Scholar
72.Macintosh, M. C. M., & Chard, T.First trimester biochemical screening for Down’s syndrome. Contemporary Reviews in Obstetrics and Gynecology, 1992, 4, 185–90.Google Scholar
73.Maxwell, D. J., Johnson, P., Hurley, P. et al. , Fetal blood sampling and pregnancy loss in relation to indication. British Journal of Obstetrics and Gynaecology, 1991, 98, 892–97.Google Scholar
74.Medical Research Council of Canada. Diagnosis of genetic disease by amniocentesis during the second trimester of pregnancy. Medical Research Council of Canada, Report No. 5, 1977.Google Scholar
75.Medical Research Council Working Party. An assessment of the hazards of amniocentesis. British Journal of Obstetrics and Gynaecology, 1978, 85 (suppl. 2), 1–41.Google Scholar
76.Medical Research Council Working Party on the Evaluation of Chorion Villus Sampling. Medical Research Council European Trial of chorion villus sampling. Lancet, 1991, 337, 1491–99.Google Scholar
77.Mennie, M. E., Gilfillan, A., Compton, M. et al. , Prenatal screening for cystic fibrosis. Lancet, 1992, 340, 214–16.Google Scholar
78.Mennuti, M. T., DiGaetano, A., McDonnell, A. et al. , Fetal-maternal bleeding associated with genetic amniocentesis: Real-time versus static ultrasound. Obstetrics and Gynecology, 1983, 62, 26–30.Google Scholar
79.Merkatz, I. R., Nitowsky, H. M., Macir, J. N., & Johnson, W. E.An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. American Journal of Obstetrics and Gynecology, 1984, 148, 886–91.Google Scholar
80.Monk, M., Handyside, A., Muggleton-Harris, A., & Whittingham, D.Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay. American Journal of Medical Genetics, 1990, 35, 201–05.Google Scholar
81.Morrow, R. J., McNay, M. B., & Whittle, M. J.Ultrasound detection of neural tube defects in patients with elevated maternal serum alphafetoprotein. Obstetrics and Gynecology, 1991, 78, 1055–57.Google Scholar
82.Mutton, D. E., Alberman, E., Ide, R., & Bobrow, M.Results of first year (1989) of a national register of Down’s syndrome in England and Wales. British Medical Journal, 1991, 303, 1295–97.CrossRefGoogle ScholarPubMed
83.Mutton, D. E., Ide, R., Alberman, E., & Bobrow, M.Analysis of national register of Down’s syndrome in England and Wales: Trends in Prenatal diagnosis, 1989–91. British Medical Journal, 1993, 306, 431–32.Google Scholar
84.Neilson, J. P., Munjana, J. P., & Whitfield, C. R.Screening for small-for-dates fetuses: A controlled trial. British Medical Journal, 1983, 289, 1179–82.CrossRefGoogle Scholar
85.Nelson, W. B., Swint, J. M., & Caskey, C. T.An economic evaluation of a genetic screening program for Tay-Sachs disease. American Journal of Human Genetics, 1978, 30, 160–66.Google ScholarPubMed
86.Nevin, J., Nevin, N. C, Dornan, J. C et al. , Early amniocentesis: experience of 222 consecutive patients, 1987–1988. Prenatal Diagnosis, 1990, 10, 79–83.CrossRefGoogle ScholarPubMed
87.Nicolaides, K. H., Azar, G., Byrne, D. et al. , Fetal nuchal translucency: Ultrasound screening for chromosomal defects in the first trimester of pregnancy. British Medical Journal, 1992, 304, 867–69.CrossRefGoogle Scholar
88.Nicolaides, K. H., & Campbell, S.Diagnosis and management of fetal malformation. Bailliere’s Clinical Obstetrics and Gynaecology, 1987, 1, 591–622.CrossRefGoogle Scholar
89.Nicolaides, K. H., Campbell, S., Gabbe, S., & Guidetti, R.Ultrasound screening for spina bifida: Cranial and cerebellar signs. Lancet, 1986, ii, 72–73.Google Scholar
90.Nicolini, U., & Rodeck, C. H. Fetal blood and tissue sampling. In Brock, D. J. H., Rodeck, C. H., & Ferguson-smith, M. A. (eds.), Prenatal diagnosis and screening. London: Churchill Livingstone, 1992, 39–51.Google Scholar
91.Nolan, G. H., Schmickel, R. D., & Chantaratherkitti, P.The effect of ultrasonography on midtrimester genetic amniocentesis complications. American Journal of Obstetrics and Gynecology, 1981, 140, 531–34.Google Scholar
92.Nyberg, D. A., Resta, R. G., Luthy, D. A. et al. , Prenatal sonographic findings of Down syndrome: Review of 94 cases. Obstetrics and Gynecology, 1990, 76, 370–77.Google Scholar
93.Orlandi, F., Damiani, G., Jakil, C. et al. , The risks of early cordocentesis (12–21 weeks): Analysis of 500 procedures. Prenatal Diagnosis, 1990, 10, 425–28.Google Scholar
94.Penso, C. A., Sandstrom, M. M., Garber, M. et al. , Early amniocentesis: Report of 407 cases with neonatal follow-up. Obstetrics and Gynecology, 1990, 76, 1032–36.Google Scholar
95.Report of the Royal College of Obstetricians and Gynaecologists Study Group on Antenatal Diagnosis of Fetal Abnormalities. London: Royal College of Obstetricians and Gynaecologists, 1991.Google Scholar
96.Rhoads, G. G., Jackson, L. G., Schlesselman, S. E. et al. , The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. New England Journal of Medicine, 1989, 320, 609–17.Google Scholar
97.Rizzo, N., Pittalis, M. C., Pilu, G. et al. , Prenatal karyotype on malformed fetuses. Prenatal Diagnosis, 1990, 10, 17–23.Google Scholar
98.Roberts, E., Duckett, D. P., & Lang, G. D.Maternal cell contamination in chorionic villus samples assessed by direct preparations and three different culture methods. Prenatal Diagnosis, 1988, 8, 635–40.Google Scholar
99.Rodeck, C. H., & Campbell, S.Sampling of pure fetal blood by fetoscopy in the second trimester of pregnancy. British Medical Journal, 1978, 2, 728–30.CrossRefGoogle ScholarPubMed
100.Romero, R., Jeanty, P., Reece, E. A. et al. , Sonographically monitored amniocentesis to decrease intraoperative complications. Obstetrics and Gynecology, 1985, 65, 426–30.Google ScholarPubMed
101.Rooney, D. E., MacLachlan, N., Smith, J. et al. , Early amniocentesis: A cytological evaluation. British Medical Journal, 1989, 299, 25.CrossRefGoogle Scholar
102.Saari-Kemppainen, A., Karjalainen, O., Ylostalo, P., & Heinonen, O. P.Ultrasound screening and perinatal mortality: Controlled trial of systematic one-stage screening in pregnancy. The Helsinki ultrasound trial. Lancet, 1990, 336, 387–91.Google Scholar
103.Sachs, E. S., Jahoda, M.G. J., Los, F. J. et al. , Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies. American Journal of Medical Genetics, 1990, 37, 268–71.Google Scholar
104.Sadovnick, A. D., & Baird, P. A.A cost-benefit analysis of prenatal detection of Down syndrome and neural tube defects in older women. American Journal of Medical Genetics, 1981, 10, 367–78.Google Scholar
105.Salvesen, K. A., Bakketeig, L. S., Eik-Nes, S. H. et al. , Routine ultrasonography in utero and school performance at age 8–9 years. Lancet, 1992, 339, 85–89.Google Scholar
106.Salvesen, K. A., Jacobsen, G., Vatten, L. J. et al. , Routine ultrasonography in utero and subsequent growth in childhood. Ultrasound in Obstetrics and Gynecology, 1993, 3, 6–10.Google Scholar
107.Salvesen, K. A., Vatten, L. J., Eik-Nes, S. H. et al. , Routine ultrasonography in utero and subsequent handedness and neurological development. British Medical Journal, 1993, 307, 159–64.Google Scholar
108.Seppala, M., & Ruoslahti, E.Alpha-fetoprotein in abortion. British Medical Journal, 1972, 4, 5843, 769–71.CrossRefGoogle ScholarPubMed
109.Sheldon, T. A., & Simpson, J.Appraisal of a new scheme for prenatal screening for Down’s syndrome. British Medical Journal, 1991, 302, 1133–36.CrossRefGoogle ScholarPubMed
110.Shirley, I. M., Bottomley, F., & Robinson, V. P.Routine radiographer screening for fetal abnormalities by ultrasound in an unselected low risk population. British Journal of Radiology, 1992, 65, 564–69.Google Scholar
111.Shulman, L. P., Emerson, D. S., Felker, R. E. et al. , High frequency of cytogenetic abnormalities in fetuses with cystic hygroma diagnosed in the first trimester. Obstetrics and Gynecology, 1992, 80, 80–82.Google Scholar
112.Simoni, G., Fraccaro, M., Gimelli, G. et al. , False-positive and false-negative findings on chorionic villus sampling. Prenatal Diagnosis, 1987, 7, 671–72.Google Scholar
113.Smidt-Jensen, S., Hahnemann, N., Jensen, P. K. A., & Therkelsen, A. J.Experience with transabdominal fine needle biopsy from chorionic villi in the first trimester: An alternative to amniocentesis. Clinical Genetics, 1984, 26, 272–74.Google Scholar
114.Smidt-Jensen, S., Permin, M., Philip, J. et al. , Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet, 1992, 340, 1238–44.Google Scholar
115.Soussis, I., Jeer, H. S., Packham, C. et al. , Ultrasonic and biochemical parameters of early pregnancies following transfer of biopsied human embryos for X-linked disorders. Human Reproduction, 1991, 6 (suppl. 1), 138.Google Scholar
116.Spencer, K., Macri, J. N., Aitken, D. A., & Connor, J. M.Free beta (hCG) a first trimester marker for fetal trisomy. Lancet, 1992, 339, 1480.Google Scholar
117.Stipparo, L., Buscaglia, M., Longatti, L. et al. , Genetic amniocentesis: 505 cases performed before the sixteenth week of gestation. Prenatal Diagnosis, 1990, 10, 359–64.Google Scholar
118.Swint, J. M., & Greenberg, F.Maternal serum alpha-fetoprotein screening for Down syndrome: Economic considerations. American Journal of Medical Genetics, 1988, 31, 231–45.Google Scholar
119.Tabor, A., Philip, J., Madser, M. et al. , Randomised controlled trial in 4606 low risk women. Lancet, 1986, i, 1287–89.CrossRefGoogle Scholar
120.Thiagarajah, S., Henke, J., Hogge, W. A. et al. , Early diagnosis of spina bifida: The value of the cranial ultrasound markers. Obstetrics and Gynecology, 1990, 76, 54–57.Google Scholar
121.Thompson, P. J., Greenough, A., & Nicolaides, K. H.Lung function following firsttrimester amniocentesis or chorionic villus sampling. Fetal Diagnosis and Therapy, 1991, 6, 148–52.Google Scholar
122.Triggs-Raine, B. L., Feigenbaum, A. S. J., Natowicz, N. et al. , Screening for carriers of Tay-Sachs disease among Ashkenazi Jews: A comparison of DNA-based and enzymebased tests. New England Journal of Medicine, 1990, 323, 6–12.Google Scholar
123.Tsui, L.The spectrum of cystic fibrosis mutations. Trends in Genetics, 1992, 8, 392–98.Google Scholar
124.Verlinksy, Y., Rechitsky, S., Cieslak, J. et al. , Reliability of preconception and preimplantation genetic diagnosis. American Journal of Human Genetics, 1991, 49 (suppl.), 22.Google Scholar
125.Ville, Y., Lalondrelle, C., Doumerc, S. et al. , First-trimester diagnosis of nuchal anomalies: Significance and fetal outcome. Ultrasound in Obstetrics and Gynecology, 1992, 2, 314–16.Google Scholar
126.Wald, N. J., Cuckle, H. S., & Boreham, J.Alpha-feto protein screening for open spina bifida: Effect of routine biparietal diameter measurement to estimate gestational age. Revue d’Epidemiologie et de Santé Publique, 1984, 32, 62–69.Google Scholar
127.Wald, N. J., Cuckle, H. S., Densem, J. W. et al. , Maternal serum screening for Down’s syndrome in early pregnancy. British Medical Journal, 1988, 297, 883–87.Google Scholar
128.Wald, N., Cuckle, H., & Nanchahal, K.Amniotic fluid acetylcholinesterase measurement in the prenatal diagnosis of open neural tube defects. Second report of the collaborative acetylcholinesterase study. Prenatal Diagnosis, 1989, 9, 813–29.Google Scholar
129.Wald, N. J., Kennard, A., Densem, J. W. et al. , Antenatal maternal serum screening for Down's syndrome: Results of a demonstration project. British Medical Journal, 1992, 305, 391–94.Google Scholar
130.Wald, N., Stone, R., Cuckle, H. S. et al. , First trimester concentrations of pregnancy associated plasma protein A and placental protein 14 in Down's syndrome. British Medical Journal, 1992, 305, 28.CrossRefGoogle ScholarPubMed
131.Waldenstrom, U., Axelsson, O., Aure, J. C. et al. , Effects of routine one-stage ultrasound screening in pregnancy: A randomised controlled trial. Lancet, 1988, ii, 585–88.Google Scholar
132.Waller, D. K., Lustig, L. S., Cunningham, G. C. et al. , Second trimester maternal serum alpha-fetoprotein levels and the risk of subsequent fetal death. New England Journal of Medicine, 1991, 325, 6–10.CrossRefGoogle ScholarPubMed
133.Ward, B. E., Gersen, S. L., Carelli, M. P. et al. , Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: Clinical experience with 4,500 specimens. American Journal of Human Genetics, 1993, 52, 854–65.Google Scholar
134.Watson, E. K., Mayall, E., Chapple, J. et al. , Screening for carriers of cystic fibrosis through primary health care services. British Medical Journal, 1991, 303, 504–07.Google Scholar
135.van Zalen-Sprock, M. M., van Vugt, J. M. G., & van Geijn, H. P.Non-echogenic nuchal oedema as a marker in trisomy 21 screening. Lancet, 1992, 339, 1480–81.CrossRefGoogle ScholarPubMed