Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the ΔF508 deletion causing cystic fibrosis in clinical practice

Prenatal Diagnosis

Volumn 18, Issue 13, 1998, Pages 1402-1412

  Ray, Pierre F ^a,b,e   Ao, Asangla ^a,c   Taylor, Deborah M ^a   Winston And, Robert M L ^a   Handyside, Alan H ^a,d  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c ROYAL VICTORIA HOSPITAL   (Canada)

^d ST THOMAS HOSPITAL   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Cystic fibrosis; PCR; Preimplantation genetic diagnosis

Indexed keywords

ALLELE; ARTICLE; BLASTOMERE; CASE REPORT; CYSTIC FIBROSIS; DIAGNOSTIC ERROR; EMBRYO; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; GENE DELETION; HETEROZYGOTE; HUMAN; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIABILITY;

BIOPSY; BLASTOMERES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EMBRYONIC DEVELOPMENT; FEMALE; GENE DELETION; GENOTYPE; HETEROZYGOTE; HUMANS; PHENYLALANINE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 0032439813     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199812)18:13<1402::AID-PD500>3.0.CO;2-T     Document Type: Article

References (26)

1. Ao, A., Ray, P., Harper, J.C., Lesko, J., Handyside, A.H., Hughes, M.R., Winston, R.M.L. (1996). Clinical experience with preimplantation diagnosis of cystic fibrosis (ΔF508), Prenat. Diagn., 16, 137-142.
2. Cui, X.F., Li, H.H., Goradia, T.M., Lange, K., Kazazian, H.H.J., Galas, D., Arnheim, N. (1989). Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers, Proc. Natl. Acad. Sci. USA, 86, 9389-9393.
3. Dawson, K.J., Conaghan, J., Ostera, G.R., Winston, R.M., Hardy, K. (1995). Delaying transfer to the third day post-insemination, to select non-arrested embryos, increases development to the fetal heart stage, Hum. Reprod., 10, 177-182.
4. Delhanty, J.D., Griffin, D.K., Handyside, A.H., Harper, J., Atkinson, G.H., Pieters, M.H., Winston, R.M. (1993). Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH), Hum. Mol. Genet., 2, 1183-1185.
5. Delhanty, J.D., Harper, J.C., Ao, A., Handyside, A.H., Winston, R.M. (1997). Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients, Hum. Genet., 99(6), 755-760.
6. El-Hashemite, N., Delhanty, J.D. (1997). A technique for eliminating allele specific amplification failure during DNA amplification of heterozygous cells for preimplantation diagnosis, Mol. Hum. Reprod., 3(11), 975-978.
7. Findlay, I., Ray, P., Quirke, P., Rutherford, A., Lilford, R. (1995). Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis, Hum. Reprod., 10, 1609-1618.
8. Handyside, A.H., Delhanty, J.D. (1997). Preimplantation genetic diagnosis: strategies and surprises, Trends Genet., 13(7), 270-275.
9. Handyside, A.H., Pattinson, J.K., Penketh, R.J., Delhanty, J.D., Winston, R.M., Tuddenham, E.G. (1989). Biopsy of human preimplantation embryos and sexing by DNA amplification, Lancet, 1, 347-349.
10. Handyside, A.H., Lesko, J.G., Tarin, J.J., Winston, R.M., Hughes, M.R. (1992). Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis (see comments), N. Engl. J. Med., 327, 905-909.
11. Harper, J.C., Handyside, A.H. (1994). The current status of preimplantation diagnosis, Curr. Obstet. Gynecol., 4, 143-149.
12. Harper, J.C., Coonen, E., Handyside, A.H., Winston, R.M., Hopman, A.H., Delhanty, J.D. (1995). Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos, Prenat. Diagn., 15, 41-49.
13. Hillier, S.G., Dawson, K.J., Afnan, M., Margara, R.A., Ryder, T.A., Wickings, E.J., Winston, R.M.L. (1984). Proceedings of the Twelfth Study group of the Royal College of Obstetricians and Gynecologists, Thompson, W., Joyce, D.N., Newton, J.R., Eds. London: Royal College of Obstetricians and Gynaecologists, 125-140.
14. Lesko, J., Snabes, M., Handyside, A.H., Hughes, M. (1991). Amplification of the cystic fibrosis DF508 mutation from single cells: applications towards genetic diagnosis of the preimplantation embryo (abstract), Am. J. Hum. Genet., 49(4), 223.
15. Li, H., Cui, X., Arnheim, N. (1991). Methods. In: Albelson, J.N., Simon, M.I. (Eds). A Companion to Methods in Enzymology, New York: Academic Press, 49-59.
16. Liu, J., Lissens, W., Devroey, P., Liebaers, I., Van Steirteghem, A.C. (1993). Efficiency of polymerase chain reaction assay for cystic fibrosis in single human blastomeres according to the presence or absence of nuclei, Fertil. Steril., 59, 815-819.
17. Munné, S., Sultan, K.M., Weier, H.U., Grifo, J.A., Cohen, J., Rosenwaks, Z. (1995). Assessment of numeric abnormalities of X, Y, 18 and 16 chromosomes in preimplantation human embryos before transfer, Am. J. Obstet. Gynecol., 172, 1191-1199.
18. Navidi, W., Arnheim, N. (1991). Using PCR in preimplantation genetic disease diagnosis, Hum. Reprod., 6, 836-849.
19. Pickering, S.J., Muggleton-Harris, A.L. (1995). Reliability and accuracy of polymerase chain reaction amplification of two unique target sequences from biopsies of cleavage-stage and blastocyst-stage human embryos, Hum. Reprod., 10, 1021-1029.
20. Ray, P.F., Winston, R.M.L., Handyside, A.H. (1994). Single cell analysis for diagnosis of cystic fibrosis and Lesch-Nyhan syndrome in human embryos before implantation (abstract), Miami Bio/Technology, Short Reports, Advances in Gene Technology: Molecular Biology and Human Genetic Disease, 5, 46.
21. Ray, P.F., Handyside, A.M. (1996a). Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis, Mol. Hum. Reprod., 2(3), 213-218.
22. Ray, P.F., Handyside, A.H. (1996b). PCR from single cells for preimplantation diagnosis. In: Elles, R. (ed.) Method in Molecular Biology: Molecular Diagnosis of Genetic Disease, Totowa, NJ: Humana Press, 245-258.
23. Ray, P.F., Kaeda, J.S., Bingham, J., Roberts, I., Handyside, A.H. (1996). Preimplantation genetic diagnosis of β-thalassaemia major, Lancet, 347, 1696.
24. Rutherford, A.J., Subak Sharpe, R.J., Dawson, K.J., Margara, R.A., Franks, S., Winston, R.M. (1988). Improvement of in vitro fertilisation after treatment with buserelin, an agonist of luteinising hormone releasing hormone, Br. Med. J., 296, 1765-1768.
25. Sherlock, J., Cirigliano, V., Petrou, M., Tutschek, B., Adinolfi, M. (1998). Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells, Ann. Hum. Genet., 62 (Pt 1), 9-23.
26. Viville, S., Messaddeq, N., Flori, E., Gerlinger, P. (1998). Preparing for preimplantation genetic diagnosis in France, Hum. Reprod., 13(4), 1022-1029.