Abstract
There are now available many methods of diagnosing fetal illness which range from simple clinical examination, through detailed anatomical examination to procedures directly accessing the fetus in utero. Diagnosis is no longer confined to structural abnormality but can include the diagnosis of infection, anaemia or starvation. However, because of the unique situation of the fetus, there are three major problems specific to fetal diagnosis. First, there are problems of adequate visualisation, making diagnostic accuracy less certain than in paediatrics. Secondly, there is the problem of obtaining normal ranges for fetal variables, since the normal fetus is rarely sampled. Thirdly, and uniquely, simple procedures such as obtaining fetal urine or blood actually carry a risk of death to the fetus.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Adzick, N. S., M. R. Harrison, P. L. Glock et al. (1985) ‘Diaphragmatic hernia in the fetus: prenatal diagnosis and outcome in 94 cases’, Journal of Pediatric Surgery, vol. 20, pp. 357–62.
Antsaklis, A. I., N. E. Papantoniou, S. A. Mesogitis, P. T. Koutra, A. M. Vintzileos and D. I. Aravantinos (1992) ‘Cardiocentesis: an alternative method of fetal blood sampling for the prenatal diagnosis of haemoglobinopathies’, Obstetrics and Gynecology, vol. 79, pp. 630–3.
Benacerraf, B. and L. Laboda (1989) ‘Cysts of the fetal choroid plexus: a normal variant’, American Journal of Obstetrics and Gynecology, vol. 160, pp. 319–21.
Bogart, M. H., M. R. Pandian and O. W. Jones (1987) ‘Abnormal maternal serum chorionic gonadotrophin levels in pregnancies with fetal chromosome abnormalities’, Prenatal Diagnosis, vol. 7, pp. 623–30.
Byrne D., K. Marks, G. Azar and K. Nicolaides (1991a) ‘Randomised study of early amniocentesis versus chorionic villus sampling: a technical and cytogenetic comparison of 650 patients’, Ultrasound in Obstetrics and Gynaecology, vol. 1, pp. 235–40.
Byrne, D. L., K. Marks, P. R. Braude and K. H. Nicolaides (1991b) ‘Amnifiltration in the first trimester: feasibility, technical aspects and cytological outcome’, Ultrasound in Obstetrics and Gynaecology, vol. 1, pp. 320–4.
Campbell, J., W. M. Gilbert, K. H. Nicolaides and S. Campbell (1987) ‘Ultrasound screening for spina bifida: cranial and cerebellar signs in a high risk population’, Obstetrics and Gynecology, vol. 70, 247–50.
Canadian Collaborative CVS-amniocentesis Clinical Trial Group (1989) ‘Multicentre randomised clinical trial of chorion villus sampling and amniocentesis: first report’, Lancet, vol. i, pp. 1–6.
Chamberlain, P. F., F. A. Manning and I. Morrison (1984) ‘Ultrasound evaluation of amniotic fluid volume. I. The relationship of marginal or decreased amniotic fluid volume to perinatal outcome’, American Journal of Obstetrics and Gynecology, vol. 150, pp. 245–9.
Chitty, L. S., G. H. Hunt, J. Moore and M. O. Lobb (1991) ‘Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population’, British Medical Journal, vol. 303, pp. 1165–9.
Chueh, J. and M. S. Golbus (1989) ‘Diagnosis and management of the abnormal fetus’, Fetal Medicine Review, vol. 1, pp. 61–78.
Constantine, G., A. Fowlie and J. Pearson (1992) ‘Placental biopsy in the third trimester of pregnancy’, Prenatal Diagnosis, vol. 12, pp. 783–8.
Crawford, D. C., S. K. Chita and L. D. Allan (1988) ‘Prenatal detection of congenital heart disease: factors affecting obstetric management and survival’, American Journal of Obstetrics and Gynecology, vol. 159, pp. 352–6.
Cuckle, H. S., N. J. Wald and S. G. Thompson (1987) ‘Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alphafetoprotein level’, British Journal of Obstetrics and Gynaecology, vol. 94, pp. 387–402.
Cullen, S., G. K. Sharland, L. D. Allan and I. D. Sullivan (1992) ‘Potential impact of population screening for prenatal diagnosis of congenital heart disease’, Archives of Disease in Childhood, vol. 67, pp. 775–8.
Daffos, F., M. Capella-Pavlovsky and F. Forestier (1985) ‘Fetal blood sampling during pregnancy with the use of a needle guided by ultrasound: a study of 606 consecutive cases’, American Journal of Obstetrics and Gynecology, vol. 153, pp. 655–60.
Davis, G. K., C. M. Farquar, L. D. Allan, D. C. Crawford and M. G. Chapman (1990) ‘Structural cardiac abnormalities in the fetus: reliability of prenatal diagnosis and outcome’, British Journal of Obstetrics and Gynaecology, vol. 97, pp. 27–31.
Faden, R. R., A. J. Chwalow and K. Quaid (1987) ‘Prenatal screening and pregnant women’s attitudes towards the abortion of defective fetuses’, American Journal of Public Health, vol. 77, pp. 288–90.
Firth, H. V., P. A. Boyd, P. Chamberlain, I. Z. MacKenzie, R. H. Lindembaum and S. M. Huson (1991) ‘Severe limb abnormalities after chorion villus sampling at 56–66 days gestation’, Lancet, vol. 337, pp. 762–3.
Golbus, M. S., R. A. Filly and P. Callen (1985) ‘Fetal urinary tract obstruction: management and selection for treatment’, Seminars in Perinatology, vol. 9, pp. 91–7.
Gosden, C. M. (1991) ‘Fetal karyotyping using chorion villus samples’, in J. O. Orife and D. Donnai (eds), Antenatal Diagnosis of Fetal Abnormalities (London: Springer-Verlag) pp. 25–40.
Hahnemann N. and J. Mohr (1969) ‘Antenatal fetal diagnosis in genetic disease’, Bulletin of the European Society of Human Genetics, vol. 3, p. 47.
Harman, C. R., J. M. Bowman, F. A. Manning and S. M. Menticoglou (1990) ‘Intrauterine transfusion — intraperitoneal versus intravascular approach: a case-control comparison’, American Journal of Obstetrics and Gynecology, vol. 162, pp. 1053–9.
Holzgreve, W., P. Miny and R. Schloo (1990) ‘Late CVS international registry compilation of data from 24 centres’, Prenatal Diagnosis, vol. 10, pp. 159–67.
Jackson, L. G. and R. J. Wapner (1987) ‘Risks of chorion villus sampling’, Balliere’s Clinical Obstetrics and Gynaecology, vol. 1, pp. 513–31.
Joint Study Group on Fetal Abnormalities (1989) ‘Recognition and management of fetal abnormalities’, Archives of Disease in Childhood, vol. 64, pp. 971–6.
Levi, S., Y. Hyjazi, J.-P. Schapps, P. Defoort, R. Coulon and P. Buekens (1991) ‘Sensitivity and specificity of routine antenatal screening for congenital anomalies by ultrasound’, Ultrasound in Obstetrics and Gynaecology, vol. 1, pp: 102–10.
Lilford, R. J., H. C. Irving, G. Linton and M. K. Mason (1987) ‘Transabdominal chorion villus sampling: 100 consecutive cases’, Lancet, vol. i, pp. 1415–7.
Luck, C. A. (1992) ‘Value of routine ultrasound scanning at 19 weeks: a four year study of 8849 deliveries’, British Medical Journal, vol. 304, pp. 1474–8.
Manning, F. A., D. D. Platt and L. Sipos (1980) ‘Antepartum fetal evaluation: Development of a fetal biophysical profile’, American Journal of Obstetrics and Gynecology, vol. 136, pp. 787–95.
Maxwell, D. J., P. Johnson, P. Hurley, K. Neales, L. Allan and P. Knott (1991) ‘Fetal blood sampling and pregnancy loss in relation to indication’, British Journal of Obstetrics and Gynaecology, vol. 98, pp. 892–7.
MRC Working Party on the Evaluation of Chorion Villus Sampling (1991) ‘Medical Research Council European Trial of chorion villus sampling’, Lancet, vol. 337, pp. 1491–9.
Neilson, J. P. (1992) ‘Abnormalities of fetal growth’, in A. A. Calder and W. Dunlop (eds), High Risk Pregnancy (Oxford: Butterworth-Heinemann) pp. 362–86.
Nevin, J., N. C. Nevin, J. C. Dornan, C. Sim and J. J. Armstrong (1990) ‘Early amniocentesis: experience of 222 consecutive patients. 1987–1988’, Prenatal Diagnosis, vol. 10, pp. 78–83.
NICHD Concensus Conference on Antenatal Diagnosis (1979) ‘NIH Publication number 80’ NIH, Washington D.C.
Nicolaides, K. H., S. G. Gabbe, S. Campbell and R. Guidetti (1986a) ‘Ultrasound screening for Spina bifida: Cranial and cerebellar signs’, Lancet, vol. ii, pp. 72–4.
Nicolaides, K. H., C. H. Rodeck and C. M. Gosden (1986b) ‘Rapid karyotyping in non-lethal fetal malformations’, Lancet, vol. i, pp. 283–6.
Nicolini, U., P. Nicolaidis, N. M. Fisk, Y. Tannirandorn and C. H. Rodeck (1990a) ‘Fetal blood sampling from the intrahepatic vein: analysis of safety and clinical experience with 214 procedures’, Obstetrics and Gynecology, vol. 76, pp. 47–53.
Nicolini, U., P. Nicolaidis and N. M. Fisk (1990b) ‘Limited role of fetal blood sampling in prediction of outcome in intrauterine growth retardation’, Lancet, vol. 336, pp. 768–72.
Northern Regional Survey Steering Group (1992) ‘Fetal abnormality: an audit of its recognition and management’, Archives of Disease in Childhood, vol. 67, pp. 770–4.
Peat, D. and D. J. H. Brock (1984) ‘Quantitative estimation of the density ratios of esterase bands in human amniotic fluids’, Clinica Chimica Acta, vol. 138, pp. 319–24.
Pijpers, L., M. G. H. Jahoda, A. Reuss, J. Wladimiroff and E. Sachs (1988) ‘Transabdominal chorion villus biopsy in the second and third trimesters of pregnancy to determine fetal karyotype’, British Medical Journal, vol. 297, pp. 822–3.
Pillai, M. and D. James (1990) ‘Development of human fetal behaviour — a review’, Fetal Diagnosis and Therapy, vol. 5, pp. 15–32.
Proud, J. and A. Grant (1987) ‘Third trimester placental grading by ultrasonography as a test of fetal wellbeing’, British Medical Journal, vol. 294, pp. 1641–4.
Reuss, A., P. A. Stewart, J. W. Wladimiroff and R. J. Scholtmeiger (1988) ‘Noninvasive management of fetal obstructive uropathy’, Lancet, vol. ii, pp. 949–51.
Rhoads, G. G., L. G. Jackson and S. E. Schlesselman (1989) ‘The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities’, New England Journal of Medicine, vol. 320, pp. 609–17.
Smidt-Jensen, S., M. Permin and J. Philip (1991) ‘Sampling success and risk by transabdominal chorion villus sampling, transcervical chorion villus sampling and amniocentesis: a randomised trial’, Ultrasound Obstetrics and Gynaecology, vol. 1, pp. 86–90.
Tabor, A., M. Masden and E. B. Obel (1986) ‘Randomised controlled trial of genetic amniocentesis in 4606 low risk women’, Lancet, vol. ii, pp. 1287–93.
Thompson, P. J., A. Greenough and K. H. Nicolaides (1991) ‘Lung function following first-trimester amniocentesis or chorion villus sampling’, Fetal Diagnosis Therapy, vol. 6, pp. 148–52.
Trudinger, B. J., C. M. Cook, W. B. Giles, A. Connelly and R. S. Thompson (1987) ‘Umbilical artery flow velocity waveforms in high risk pregnancy — randomised controlled trial’, Lancet, vol. i, pp. 188–190.
Wald, N. J. and H. S. Cuckle (1984) ‘Open neural tube defects’, in N. J. Wald (ed.), Antenatal and Neonatal Screening for Disease (Oxford: Oxford University Press) pp. 25–73.
Wald, N. J. and H. Cuckle (1987) ‘Recent advances in screening for neural tube defects and Down’s syndrome’, Bailliere’s Clinical Obstetrics and Gynaecology, vol. 1, pp. 649–76.
Wald, N. J., H. S. Cuckle and J. W. Densem (1988a) ‘Maternal serum unconjugated oestriol as an antenatal screening test for Down’s syndrome’, British Journal of Obstetrics and Gynaecology, vol. 95, pp. 334–41.
Wald, N. J., H. Cuckle and J. W. Densem (1988b) ‘Maternal serum screening in early pregnancy for Down’s syndrome’, British Medical Journal, vol. 297, pp. 883–7.
Wald, N. J., A. Kennard, J. W. Densem, H. S. Cuckle, T. Chard and L. Butler (1992) ‘Antenatal maternal serum screening for Down’s syndrome: Results of a demonstration project’, British Medical Journal, vol. 305, pp. 391–4.
Walker, S. and P. J. Howard (1986) ‘Cytogenetic prenatal diagnosis and its relative effectiveness in the Mersey region and North Wales’, Prenatal Diagnosis, vol. 6, pp. 13–23.
Walkinshaw, S. A., M. Renwick, G. Hebisch and E. N. Hey (1992) ‘How good is ultrasound in the detection and evaluation of anterior abdominal wall defects?’, British Journal of Radiology, vol. 65, pp. 298–301.
Ward, T. H. T., B. Modell, M. Petrou, F. Karagozlu and E. Douratsos (1983) ‘Method of sampling chorionic villi in the first trimester of pregnancy under guidance of real time ultrasound’, British Medical Journal, vol. 286, pp. 1542–4.
Welch, C. R. and S. A. Walkinshaw (1993) ‘Management of pregnancies complicated by Rh (D) antibodies’, British Journal of Hospital Medicine (in press).
Whittle, M. J. (1989) ‘Cordocentesis’, British Journal of Obstetrics and Gynaecology, vol. 96, pp. 262–4.
Editor information
Editors and Affiliations
Copyright information
© 1995 The Galton Institute
About this chapter
Cite this chapter
Walkinshaw, S.A. (1995). Clinical Methods of Prenatal Diagnosis. In: Barron, S.L., Roberts, D.F. (eds) Issues in Fetal Medicine. Studies in Biology, Economy and Society. Palgrave Macmillan, London. https://doi.org/10.1007/978-1-349-23812-5_5
Download citation
DOI: https://doi.org/10.1007/978-1-349-23812-5_5
Publisher Name: Palgrave Macmillan, London
Print ISBN: 978-1-349-23814-9
Online ISBN: 978-1-349-23812-5
eBook Packages: MedicineMedicine (R0)