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Screening for genetic abnormality

Published online by Cambridge University Press:  10 October 2008

J Michael Connor*
Affiliation:
Professor of Medical Genetics and Director of the West of Scotland Regional Genetics Service, Duncan Guthrie Institute of Medical Genetics, Glasgow, UK.
*
Prof JM Connor, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, UK

Extract

Screening for genetic and congenital abnormalities during pregnancy has developed over the past 10–15 years from a concept to an established aspect of modern obstetric management in response to the declining importance of other causes of infant and perinatal mortality and morbidity. This review will consider why screening is indicated for this group of conditions, the criteria for any screening programme and the current impact of prenatal screening.

Type
Articles
Copyright
Copyright © Cambridge University Press 1989

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References

1Buckell, EW, Wood, BS.Wessex perinatal mortality survey 1982. Br J Obstet Gynaecol 1985; 92: 550–58.CrossRefGoogle ScholarPubMed
2Connor, JM, Ferguson-Smith, MA.Current causes of mental handicap and opportunities for prevention. Ballières Clinical Obstet Gynaecol 1988: 2: 3754.CrossRefGoogle Scholar
3Carter, CO.Monogenic disorders. J Med Genet 1977; 14: 316–20.CrossRefGoogle ScholarPubMed
4Schinzel, A.Catalogue of unbalanced chromosome aberrations in man. Berlin: de Gruyter, 1984.Google Scholar
5Kalter, H, Warkany, J.Congenital malformations. Etiologic factors and their role in prevention. N Engl J Med 1983; 308: 424–31, 491–97.CrossRefGoogle ScholarPubMed
6McKusick, VA.Mendelian inheritance in man, eighth edition. Baltimore and London: Johns Hopkins University Press, 1988.Google Scholar
7King's Fund forum consensus statement: screening for fetal and genetic abnormality. Br Med J 1987; 295: 1551–53.CrossRefGoogle Scholar
8Faden, RR, Chwalow, AJ, Quaid, K et al. Prenatal screening and pregnant women's attitudes towards the abortion of defective fetuses. Am J Public Health 1987; 77:288–90.CrossRefGoogle Scholar
9Henderson, JB.Measuring the benefits of screening for open neural tube defects. J Epidemiol Comm Health 1982; 36: 214–19.CrossRefGoogle ScholarPubMed
10Sadovnick, AD, Baird, PA.A cost-benefit analysis of a population screening programme for neural tube defects. Prenatal Diagnosis 1983; 3: 117–26.CrossRefGoogle ScholarPubMed
11Dodge, JA.Implications of the new genetics for screening for cystic fibrosis. Lancet 1988; 2: 672–74.CrossRefGoogle ScholarPubMed
12Holmes, LB, Driscoll, SG, Atkins, L.Etiologic heterogeneity of neural tube defects. N Engl J Med 1976; 294: 365.CrossRefGoogle ScholarPubMed
13UK Collaborative Study. Maternal serum alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Lancet 1977; 1: 1323–32.Google Scholar
14Ferguson-Smith, MA.The reduction of anencephalic and spina bifida births by maternal serum alphafetoprotein screening. Br Med Bull 1983; 39: 365–72.CrossRefGoogle ScholarPubMed
15Carstairs, V, Cole, S.Spina bifida and anencephaly in Scotland. Br Med J 1984; 289: 1182–84.CrossRefGoogle ScholarPubMed
16Stone, DH, Smalls, MJ, Rosenberg, K, Wormersley, J.Screening for congenital neural tube defects in a high risk area: an epidemiological perspective. J Epidemiol Comm Health 1988; 42: 271–73.CrossRefGoogle Scholar
17Cuckle, H, Wald, N.The impact of screening for open neural tube defects in England and Wales. Prenatl Diagn 1987; 7: 9199.CrossRefGoogle ScholarPubMed
18Anonymous. Maternal serum alphafetoprotein screening for neural tube defects. Results of a consensus meeting. Prenatl Diagn 1985; 5: 577–83.Google Scholar
19UK Collaborative Study. Estimating an individual's risk of having a fetus with open spina bifida and the value of repeat alphafetoprotein testing. J Epidemiol Comm Health 1982; 36: 8795.CrossRefGoogle Scholar
20Sack, RA, Maharry, JM.Misdiagnosis obstetric and gynecologic ultrasound examinations: causes and possible solutions. Am J Obstet Gynecol 1988; 158: 1260–66.CrossRefGoogle ScholarPubMed
21Campbell, S, Griffin, D, Roberts, A, Little, D. Early prenatal diagnosis of abnormalities of the fetal head, spine, limbs and abdominal organs. In: Orlandi, C, Polani, PE, Bovicelli, L eds, Recent advances in prenatal diagnosis, Chichester: John Wiley and Sons.Google Scholar
22Campbell, J, Gilbert, WM, Nicolaides, KH, Campbell, S.Ultrasound screening for spina bifida: cranial and cerebellar signs in a high risk population. Obstet Gynecol 1987; 70: 247–50.Google ScholarPubMed
23Nicolaides, KH, Campbell, S.Diagnosis of fetal abnormalities by ultrasound. Ballières Clin Obstet Gynaecol 1987; 1: 591622.CrossRefGoogle Scholar
24Roberts, CJ, Evans, KT, Hibbard, BM, Laurence, KM, Roberts, EE, Robertson, IB.Diagnostic effectiveness of ultrasound in the detection of neural tube defect. Lancet 1983; 2: 1068–69.CrossRefGoogle ScholarPubMed
25Hashimoto, BE, Mahoney, BS, Filly, RA, Golbus, MJ, Anderson, RC, Callen, PW.Sonography, a complementary examination to alpha-fetoprotein testing for fetal neural tube defects. J Ultrasound Med 1985; 4: 307–10.CrossRefGoogle ScholarPubMed
26Campbell, S, Smith, P. Routine screening for congenital abnormalities by ultrasound. In: Rodeck, CH, Nicolaides, KH, Prenatal Diagnosis, 11th Study Group Report of the Royal College of Obstetricians and Gynaecologists, London: Royal College of Obstetricians and Gynaecologists, 1984.Google Scholar
27Lindfors, KK, McGahan, JP, Tennant, FP, Hanson, FW, Walter, JP.Midtrimester screening for open neural tube defects: correlation of sonography with amniocentesis result. AJR 1987; 149: 141–45.CrossRefGoogle Scholar
28Sabbagha, RE, Sheikh, Z, Tamura, RK et al. Predictive value, sensitivity and specificity of ultrasonic targeted imaging for fetal anomalies in gravid women at high risk for birth defects. Am J Obstet Gynecol 1985; 152: 822–77.CrossRefGoogle ScholarPubMed
29Brock, DJH.Amniotic fluid tests for fetal neural tube defects. Br Med Bull 1983; 39: 373–37.CrossRefGoogle ScholarPubMed
30Brock, DJH, Barron, L.Prospective prenatal screening for fetal abnormalities using a quantitative immunoassay for acetylcholinesterase. J Med Genet 1988; 25: 606608.CrossRefGoogle ScholarPubMed
31UK Collaborative Study. Amniotic fluid alpha-fetoprotein measurement in antenatal diagnosis of anencephaly and open spina bifida in early pregnancy. Lancet 1979; 2: 651–62.Google Scholar
32Crandall, BF, Matsumoto, M.Routine amniotic fluid alphafetoprotein assay: experience with 40,000 pregnancies. Am J Med Genet 1986; 24: 143–49.CrossRefGoogle Scholar
33Aitken, DA, Morrison, NM, Ferguson-Smith, MA.Predictive value of amniotic fluid acetylcholinesterase analysis in the diagnosis of fetal abnormality in 3700 pregnancies. Prenatl Diagn 1984; 4: 329–40.CrossRefGoogle ScholarPubMed
34Persson, PH, Kullander, S, Gennser, G, Grennert, L, Laurell, CB.Screening for fetal malformations using ultrasound and measurements of alpha-fetoprotein in maternal serum. Br Med J 1983; 286: 747–49.CrossRefGoogle ScholarPubMed
35Zacutti, A. Ultrasound diagnosis of fetal malformation. The first multicentric experience in Italy and a proposal for mass screening. In: Orlandi, C, Polani, PE, Bovicelli, L eds, Recent advances in prenatal diagnosis. Chichester: John Wiley and Sons.Google Scholar
36Cuckle, HS, Wald, NJ, Thompson, SG.Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol 1987; 94: 387402.CrossRefGoogle ScholarPubMed
37Ferguson-Smith, MA, Yates, JRW.Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52 965 amniocenteses. Prenatl Diagn 1984; 4: 544.CrossRefGoogle Scholar
38Merkatz, IR, Nitowsky, HM, Macri, JN, Johnson, WE.An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol 1984; 148: 886–94.CrossRefGoogle ScholarPubMed
39Editorial. Low maternal serum alphafetoprotein and Down's syndrome. Lancet 1985; 1: 259–60.Google Scholar
40Pueschel, SM.Maternal alpha-fetoprotein screening for Down's syndrome. N Engl J Med 1987; 317: 376–78.CrossRefGoogle ScholarPubMed
41Hershey, DW, Crandall, BF, Perdue, S.Combining maternal age and serum alphafetoprotein to predict the risk of Down's syndrome. Obstet Gynecol 1986; 68: 177–80.Google Scholar
42DiMaio, MS, Baumgarten, A, Greenstein, RM, Saal, HM, Mahoney, MJ.Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alphafetoprotein levels. N Engl J Med 1987; 317: 342–46.CrossRefGoogle Scholar
43Wald, NJ, Cuckle, HS, Densen, JW et al. Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. Br J Obstet Gynaecol 1988; 95: 334–41.CrossRefGoogle ScholarPubMed
44Bogart, MH, Pandian, MR, Jones, DW.Abnormal maternal serum chorionic gonadotrophin levels in pregnancies with fetal chromosome abnormalities. Prenatl Diagn 1987; 7: 623–30.CrossRefGoogle ScholarPubMed
45Benacerraf, BR, Miller, WA, Frigoletto, FD.Sonographic detection of fetuses with trisomies 13 and 18: accuracy and limitations. Am J Obstet Gynecol 1988; 158: 404409.CrossRefGoogle ScholarPubMed
46Benacerraf, BR, Frigoletto, FD.Soft tissue nuchal fold in the second-trimester fetus: standard for normal measurements compared with those in Down's syndrome. Am J Obstet Gynecol 1987; 157: 1146–49.CrossRefGoogle Scholar
47Lockwood, C, Benacerraf, BR, Krinsky, A et al. A sonographic screening method for Down's syndrome. Am J Obstet Gynecol 1987; 157: 803808.CrossRefGoogle Scholar
48Allan, LD, Crawford, DC, Chita, SK, Tynan, MJ.Prenatal screening for congenital heart disease. Br Med J 1986; 292: 1717–19.CrossRefGoogle ScholarPubMed
49Harper, PS.Practical genetic counselling, second edition. Bristol: John Wright, 1984.Google Scholar
50Copel, JA, Pilu, G, Green, J, Hobbins, JC, Kleinman, CS.Fetal echocardiographic screening for congenital heart disease: the importance of the four chamber view. Am J Obstet Gynecol 1987; 157: 648–55.CrossRefGoogle ScholarPubMed
51Benacerraf, BR, Pober, BR, Sanders, SP.Accuracy of fetal echocardiography. Radiology 1987; 165: 847–49.CrossRefGoogle ScholarPubMed
52Mann, L, Ferguson-Smith, MA, Desai, M, Gibson, AAM, Raine, PAM.Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenatl Diagn 1984; 4: 427–35.CrossRefGoogle ScholarPubMed
53Ryynanen, M, Seppala, M, Kuusela, P et al. Antenatal screening for congenital nephrosis in Finland by maternal serum alphafetoprotein. Br J Obstet Gynaecol 1983; 90: 437–42.CrossRefGoogle Scholar
54Harper, PS, Tyler, A, Smith, S et al. Decrease in the predicted incidence of Huntington's chorea associated with systematic genetic counselling and family support. Lancet 1981; 2: 411–13.CrossRefGoogle Scholar
55van, Regemorter, Dodion, NJ, Druart, C et al. Congenital malformations in 10,000 consecutive births in the university hospital-need for genetic counselling and prenatal diagnosis. J Pediatr 1984; 104: 386–90.Google Scholar
56Stoll, C, Roth, MP, Dott, B, Bigel, P.Usefulness of a registry of congenital malformations for genetic counselling and prenatal diagnosis. Clin Genet 1986; 29: 204–10.CrossRefGoogle ScholarPubMed