Skip to main content
NCBI home page
The BMJ logoLink to The BMJ
. 1988 Aug 20;297(6647):502–506. doi: 10.1136/bmj.297.6647.502

Prenatal diagnosis of common genetic disorders.

M D Crawfurd 1
PMCID: PMC1840345  PMID: 3139178

Full text

PDF
502

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Allan L. D., Crawford D. C., Chita S. K., Tynan M. J. Prenatal screening for congenital heart disease. Br Med J (Clin Res Ed) 1986 Jun 28;292(6537):1717–1719. doi: 10.1136/bmj.292.6537.1717. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Bakketeig L. S., Eik-Nes S. H., Jacobsen G., Ulstein M. K., Brodtkorb C. J., Balstad P., Eriksen B. C., Jörgensen N. P. Randomised controlled trial of ultrasonographic screening in pregnancy. Lancet. 1984 Jul 28;2(8396):207–211. doi: 10.1016/s0140-6736(84)90492-6. [DOI] [PubMed] [Google Scholar]
  3. Barker D., Wright E., Nguyen K., Cannon L., Fain P., Goldgar D., Bishop D. T., Carey J., Baty B., Kivlin J. Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science. 1987 May 29;236(4805):1100–1102. doi: 10.1126/science.3107130. [DOI] [PubMed] [Google Scholar]
  4. Benacerraf B. R., Frigoletto F. D., Jr Soft tissue nuchal fold in the second-trimester fetus: standards for normal measurements compared with those in Down syndrome. Am J Obstet Gynecol. 1987 Nov;157(5):1146–1149. doi: 10.1016/s0002-9378(87)80279-x. [DOI] [PubMed] [Google Scholar]
  5. Benacerraf B. R., Gelman R., Frigoletto F. D., Jr Sonographic identification of second-trimester fetuses with Down's syndrome. N Engl J Med. 1987 Nov 26;317(22):1371–1376. doi: 10.1056/NEJM198711263172203. [DOI] [PubMed] [Google Scholar]
  6. Bodrug S. E., Ray P. N., Gonzalez I. L., Schmickel R. D., Sylvester J. E., Worton R. G. Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science. 1987 Sep 25;237(4822):1620–1624. doi: 10.1126/science.3629260. [DOI] [PubMed] [Google Scholar]
  7. Bogart M. H., Pandian M. R., Jones O. W. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn. 1987 Nov;7(9):623–630. doi: 10.1002/pd.1970070904. [DOI] [PubMed] [Google Scholar]
  8. Brock D. J., Barron L., van Heyningen V. Prenatal diagnosis of neural-tube defects with a monoclonal antibody specific for acetylcholinesterase. Lancet. 1985 Jan 5;1(8419):5–8. doi: 10.1016/s0140-6736(85)90962-6. [DOI] [PubMed] [Google Scholar]
  9. Buchwald M., Zsiga M., Markiewicz D., Plavsic N., Kennedy D., Zengerling S., Willard H. F., Tsipouras P., Schmiegelow K., Schwartz M. Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7. Cytogenet Cell Genet. 1986;41(4):234–239. doi: 10.1159/000132235. [DOI] [PubMed] [Google Scholar]
  10. Burghes A. H., Logan C., Hu X., Belfall B., Worton R. G., Ray P. N. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. 1987 Jul 30-Aug 5Nature. 328(6129):434–437. doi: 10.1038/328434a0. [DOI] [PubMed] [Google Scholar]
  11. Campbell S., Pryse-Davies J., Coltart T. M., Seller M. J., Singer J. D. Ultrasound in the diagnosis of spina bifida. Lancet. 1975 May 10;1(7915):1065–1068. doi: 10.1016/s0140-6736(75)91831-0. [DOI] [PubMed] [Google Scholar]
  12. Chang J. C., Golbus M. S., Kan Y. W. Antenatal diagnosis of sickle cell anemia by sensitive DNA assay. Lancet. 1982 Jun 26;1(8287):1463–1463. doi: 10.1016/s0140-6736(82)92467-9. [DOI] [PubMed] [Google Scholar]
  13. Chehab F. F., Doherty M., Cai S. P., Kan Y. W., Cooper S., Rubin E. M. Detection of sickle cell anaemia and thalassaemias. Nature. 1987 Sep 24;329(6137):293–294. doi: 10.1038/329293b0. [DOI] [PubMed] [Google Scholar]
  14. Connor J. M., Loughlin S. A., Whittle M. J. First trimester prenatal exclusion of tuberous sclerosis. Lancet. 1987 May 30;1(8544):1269–1269. doi: 10.1016/s0140-6736(87)92722-x. [DOI] [PubMed] [Google Scholar]
  15. Crane J. P., Beaver H. A., Cheung S. W. First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial. Prenat Diagn. 1988 Jun;8(5):355–366. doi: 10.1002/pd.1970080506. [DOI] [PubMed] [Google Scholar]
  16. Cuckle H. S., Wald N. J., Thompson S. G. 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 May;94(5):387–402. doi: 10.1111/j.1471-0528.1987.tb03115.x. [DOI] [PubMed] [Google Scholar]
  17. Daffos F., Forestier F., Grangeot-Keros L., Capella Pavlovsky M., Lebon P., Chartier M., Pillot J. Prenatal diagnosis of congenital rubella. Lancet. 1984 Jul 7;2(8393):1–3. doi: 10.1016/s0140-6736(84)91993-7. [DOI] [PubMed] [Google Scholar]
  18. Embury S. H., Scharf S. J., Saiki R. K., Gholson M. A., Golbus M., Arnheim N., Erlich H. A. Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. N Engl J Med. 1987 Mar 12;316(11):656–661. doi: 10.1056/NEJM198703123161103. [DOI] [PubMed] [Google Scholar]
  19. Estivill X., Farrall M., Scambler P. J., Bell G. M., Hawley K. M., Lench N. J., Bates G. P., Kruyer H. C., Frederick P. A., Stanier P. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. 1987 Apr 30-May 6Nature. 326(6116):840–845. doi: 10.1038/326840a0. [DOI] [PubMed] [Google Scholar]
  20. Farrall M., Law H. Y., Rodeck C. H., Warren R., Stanier P., Super M., Lissens W., Scambler P., Watson E., Wainwright B. First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet. 1986 Jun 21;1(8495):1402–1405. doi: 10.1016/s0140-6736(86)91553-9. [DOI] [PubMed] [Google Scholar]
  21. Farrall M., Scambler P., Klinger K. W., Davies K., Worrall C., Williamson R., Wainwright B. Cystic fibrosis carrier detection using a linked gene probe. J Med Genet. 1986 Aug;23(4):295–299. doi: 10.1136/jmg.23.4.295. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Forest M. G., Bétuel H., Couillin P., Boué A. Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH. Prenat Diagn. 1981 Jul;1(3):197–207. doi: 10.1002/pd.1970010305. [DOI] [PubMed] [Google Scholar]
  23. Hassold T., Warburton D., Kline J., Stein Z. The relationship of maternal age and trisomy among trisomic spontaneous abortions. Am J Hum Genet. 1984 Nov;36(6):1349–1356. [PMC free article] [PubMed] [Google Scholar]
  24. Hay C. W., Robertson K. A., Yong S. L., Thompson A. R., Growe G. H., MacGillivray R. T. Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status. Blood. 1986 May;67(5):1508–1511. [PubMed] [Google Scholar]
  25. Heagerty A. H., Eady R. A., Kennedy A. R., Nicolaides K. H., Rodeck C. H., Hsi B. L., Ortonne J. P. Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody. Br J Dermatol. 1987 Sep;117(3):271–275. doi: 10.1111/j.1365-2133.1987.tb04132.x. [DOI] [PubMed] [Google Scholar]
  26. Hodgson S., Walker A., Cole C., Hart K., Johnson L., Heckmatt J., Dubowitz V., Bobrow M. The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy. J Med Genet. 1987 Mar;24(3):152–159. doi: 10.1136/jmg.24.3.152. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Hoffman E. P., Brown R. H., Jr, Kunkel L. M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919–928. doi: 10.1016/0092-8674(87)90579-4. [DOI] [PubMed] [Google Scholar]
  28. Horwell D. H., Loeffler F. E., Coleman D. V. Assessment of a transcervical aspiration technique for chorionic villus biopsy in the first trimester of pregnancy. Br J Obstet Gynaecol. 1983 Mar;90(3):196–198. doi: 10.1111/j.1471-0528.1983.tb08607.x. [DOI] [PubMed] [Google Scholar]
  29. Koenig M., Hoffman E. P., Bertelson C. J., Monaco A. P., Feener C., Kunkel L. M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987 Jul 31;50(3):509–517. doi: 10.1016/0092-8674(87)90504-6. [DOI] [PubMed] [Google Scholar]
  30. Lathe R. Synthetic oligonucleotide probes deduced from amino acid sequence data. Theoretical and practical considerations. J Mol Biol. 1985 May 5;183(1):1–12. doi: 10.1016/0022-2836(85)90276-1. [DOI] [PubMed] [Google Scholar]
  31. Law H. Y., Stanier P., Williamson R., Modell B., Ward R. H., Petrou M., Old J., Farrall M. Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes. Prenat Diagn. 1987 Mar;7(3):215–221. doi: 10.1002/pd.1970070309. [DOI] [PubMed] [Google Scholar]
  32. Leschot N. J., Verjaal M., Treffers P. E. Risks of midtrimester amniocentesis; assessment in 3000 pregnancies. Br J Obstet Gynaecol. 1985 Aug;92(8):804–807. doi: 10.1111/j.1471-0528.1985.tb03049.x. [DOI] [PubMed] [Google Scholar]
  33. Lockwood C., Benacerraf B., Krinsky A., Blakemore K., Belanger K., Mahoney M., Hobbins J. A sonographic screening method for Down syndrome. Am J Obstet Gynecol. 1987 Oct;157(4 Pt 1):803–808. doi: 10.1016/s0002-9378(87)80059-5. [DOI] [PubMed] [Google Scholar]
  34. Macek M., Annerén G., Gustavson K. H., Held K., Tomásová H., Hronková J., Burjanková J., Hrycejová I. Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism. Clin Genet. 1987 Dec;32(6):403–408. doi: 10.1111/j.1399-0004.1987.tb03158.x. [DOI] [PubMed] [Google Scholar]
  35. Mattei M. G., Philip N., Passage E., Moisan J. P., Mandel J. L., Mattei J. F. DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome. Hum Genet. 1985;69(3):268–271. doi: 10.1007/BF00293038. [DOI] [PubMed] [Google Scholar]
  36. Maxwell D., Lilford R., Czepulkowski B., Heaton D., Coleman D. Transabdominal chorionic villus sampling. Lancet. 1986 Jan 18;1(8473):123–126. doi: 10.1016/s0140-6736(86)92262-2. [DOI] [PubMed] [Google Scholar]
  37. Meredith A. L., Huson S. M., Lunt P. W., Sarfarazi M., Harley H. G., Brook J. D., Shaw D. J., Harper P. S. Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. Br Med J (Clin Res Ed) 1986 Nov 22;293(6558):1353–1356. doi: 10.1136/bmj.293.6558.1353. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Merkatz I. R., Nitowsky H. M., Macri J. N., Johnson W. E. An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol. 1984 Apr 1;148(7):886–894. doi: 10.1016/0002-9378(84)90530-1. [DOI] [PubMed] [Google Scholar]
  39. Morgan S. H., Cheshire J. K., Wilson T. M., MacDermot K., Crawfurd M. A. Anderson-Fabry disease--family linkage studies using two polymorphic X-linked DNA probes. Pediatr Nephrol. 1987 Jul;1(3):536–539. doi: 10.1007/BF00849266. [DOI] [PubMed] [Google Scholar]
  40. Mornet E., Boue J., Raux-Demay M., Couillin P., Oury J. F., Dumez Y., Dausset J., Cohen D., Boué A. First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination. Hum Genet. 1986 Aug;73(4):358–364. doi: 10.1007/BF00279101. [DOI] [PubMed] [Google Scholar]
  41. Myers R. M., Larin Z., Maniatis T. Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science. 1985 Dec 13;230(4731):1242–1246. doi: 10.1126/science.4071043. [DOI] [PubMed] [Google Scholar]
  42. Nicolaides K. H., Soothill P. W., Rodeck C. H., Warren R. C., Gosden C. M. Why confine chorionic villus (placental) biopsy to the first trimester? Lancet. 1986 Mar 8;1(8480):543–544. doi: 10.1016/s0140-6736(86)90894-9. [DOI] [PubMed] [Google Scholar]
  43. Pecorara M., Casarino L., Mori P. G., Morfini M., Mancuso G., Scrivano A. M., Boeri E., Molinari A. C., De Biasi R., Ciavarella N. Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis. Blood. 1987 Aug;70(2):531–535. [PubMed] [Google Scholar]
  44. Pollack M. S., Maurer D., Levine L. S., New M. I., Pang S., Duchon M., Owens R. P., Merkatz I. R., Nitowsky B. M., Sachs G. Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing. Lancet. 1979 May 26;1(8126):1107–1108. doi: 10.1016/s0140-6736(79)91789-6. [DOI] [PubMed] [Google Scholar]
  45. Pollock J. M., Bowman J. M., Manning F. A., Harman C. R. Fetal blood sampling in Rh hemolytic disease. Vox Sang. 1987;53(3):139–142. doi: 10.1111/j.1423-0410.1987.tb04937.x. [DOI] [PubMed] [Google Scholar]
  46. Quarrell O. W., Meredith A. L., Tyler A., Youngman S., Upadhyaya M., Harper P. S. Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet. 1987 Jun 6;1(8545):1281–1283. doi: 10.1016/s0140-6736(87)90541-1. [DOI] [PubMed] [Google Scholar]
  47. Reeders S. T., Breuning M. H., Corney G., Jeremiah S. J., Meera Khan P., Davies K. E., Hopkinson D. A., Pearson P. L., Weatherall D. J. Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) 1986 Mar 29;292(6524):851–853. doi: 10.1136/bmj.292.6524.851. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Rodeck C. H., Patrick A. D., Pembrey M. E., Tzannatos C., Whitfield A. E. Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency. Lancet. 1982 Aug 7;2(8293):297–300. doi: 10.1016/s0140-6736(82)90272-0. [DOI] [PubMed] [Google Scholar]
  49. Sabbagha R. E., Sheikh Z., Tamura R. K., DalCompo S., Simpson J. L., Depp R., Gerbie A. B. 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 Aug 1;152(7 Pt 1):822–827. doi: 10.1016/s0002-9378(85)80070-3. [DOI] [PubMed] [Google Scholar]
  50. Scheres J. M., Merkx G. F., Hustinx T. W. Prometaphase banding of human chromosomes with basic fuchsin. Hum Genet. 1982;61(1):8–11. doi: 10.1007/BF00291322. [DOI] [PubMed] [Google Scholar]
  51. Smith C. J., Kelleher P. C., Bélanger L., Dallaire L. Reactivity of amniotic fluid alpha-fetoprotein with concanavallin A in diagnosis of neural tube defects. Br Med J. 1979 Apr 7;1(6168):920–921. doi: 10.1136/bmj.1.6168.920. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. Stein Z., Susser M., Guterman A. V. Screening programme for prevention of Down's syndrome. Lancet. 1973 Feb 10;1(7798):305–310. doi: 10.1016/s0140-6736(73)91551-1. [DOI] [PubMed] [Google Scholar]
  53. Super M., Ivinson A., Schwarz M., Giles L., Elles R. G., Read A. P., Harris R. Clinic experience of prenatal diagnosis of cystic fibrosis by use of linked DNA probes. Lancet. 1987 Oct 3;2(8562):782–784. doi: 10.1016/s0140-6736(87)92510-4. [DOI] [PubMed] [Google Scholar]
  54. Turner G., Till R., Daniel A. Marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med. 1978 Dec 28;299(26):1472–1472. doi: 10.1056/NEJM197812282992625. [DOI] [PubMed] [Google Scholar]
  55. Wainwright B. J., Scambler P. J., Schmidtke J., Watson E. A., Law H. Y., Farrall M., Cooke H. J., Eiberg H., Williamson R. Localization of cystic fibrosis locus to human chromosome 7cen-q22. 1985 Nov 28-Dec 4Nature. 318(6044):384–385. doi: 10.1038/318384a0. [DOI] [PubMed] [Google Scholar]
  56. Wald N. J., Cuckle H. S., Densem J. W., Nanchahal K., Canick J. A., Haddow J. E., Knight G. J., Palomaki G. E. Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. Br J Obstet Gynaecol. 1988 Apr;95(4):334–341. doi: 10.1111/j.1471-0528.1988.tb06602.x. [DOI] [PubMed] [Google Scholar]
  57. Ward R. H., Modell B., Fairweather D. V., Shirley I. M., Richards B. A., Hetherington C. P. Obstetric outcome and problems of mid-trimester fetal blood sampling for antenatal diagnosis. Br J Obstet Gynaecol. 1981 Nov;88(11):1073–1080. doi: 10.1111/j.1471-0528.1981.tb01755.x. [DOI] [PubMed] [Google Scholar]
  58. Weatherall D. J., Old J. M., Thein S. L., Wainscoat J. S., Clegg J. B. Prenatal diagnosis of the common haemoglobin disorders. J Med Genet. 1985 Dec;22(6):422–430. doi: 10.1136/jmg.22.6.422. [DOI] [PMC free article] [PubMed] [Google Scholar]
  59. Webb T., Gosden C. M., Rodeck C. H., Hamill M. A., Eason P. E. Prenatal diagnosis of X-linked mental retardation with fragile (X) using fetoscopy and fetal blood sampling. Prenat Diagn. 1983 Apr-Jun;3(2):131–137. doi: 10.1002/pd.1970030210. [DOI] [PubMed] [Google Scholar]
  60. Williams C., Williamson R., Coutelle C., Loeffler F., Smith J., Ivinson A. Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification. Lancet. 1988 Jul 9;2(8602):102–103. doi: 10.1016/s0140-6736(88)90031-1. [DOI] [PubMed] [Google Scholar]

Articles from BMJ : British Medical Journal are provided here courtesy of BMJ Publishing Group

RESOURCES