The role of preimplantation genetic diagnosis in women of advanced reproductive age

Current Opinion in Obstetrics and Gynecology

Volumn 15, Issue 3, 2003, Pages 233-238

  Kuliev, Anver ^a   Verlinsky, Yury ^a  

^a REPRODUCTIVE GENETICS INSTITUTE   (United States)

Author keywords

Advanced reproductive age; Age related aneuploidies; Fluorescent in situ hybridization; IVF efficiency; Preimplantation genetic diagnosis

Indexed keywords

ANEUPLOIDY; BIOAVAILABILITY; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; IMPLANTATION; MULTIPLE PREGNANCY; OOCYTE; PREGNANCY RATE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGENY; REVIEW; RISK FACTOR;

ADULT; ANEUPLOIDY; FEMALE; FERTILIZATION IN VITRO; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MATERNAL AGE; PREGNANCY; PREGNANCY, HIGH-RISK; PREIMPLANTATION DIAGNOSIS;

EID: 0038621231     PISSN: 1040872X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001703-200306000-00004     Document Type: Review

References (47)

1. Verlinsky Y, Kuliev A. Preimplantation diagnosis of genetic diseases: a new technique in assisted reproduction. New York: Wiley-Liss; 1993.
2. Edwards RG. Preconception and preimplantation diagnosis of genetic diseases. Cambridge: Cambridge University Press; 1993.
3. International Working Group on Preimplantation Genetics. Preimplantation genetic diagnosis: experience of three thousand clinical cycles. Report of the 11th Annual Meeting International Working Group on Preimlantation Genetics, in conjunction with the 10th International Congress of Human Genetics, Vienna, May 15, 2001. Reprod Biomed Online 2001; 3:49-53.
4. Munne S, Cohen J, Sable D. Preimplantation genetic diagnosis for advance maternal age and other indications. Fertil Steril 2002; 78:234-236.
5. Handyside AH, Kontogiani EH, Hardy K, Winston RML. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344:768-770.
6. Verlinsky Y, Ginsberg N, Lifchez A, et al. Analysis of the first polar body: preconception genetic diagnosis. Hum Reprod 1990; 5:826-829.
7. Verlinsky Y, Cieslak J, Kuliev A. Preimplantation FISH diagnosis of aneuploidies. In: Fan Y, editor. Molecular cytogenetics: protocols and applications. Totowa: Humana Press; 2002. pp. 259-273.
8. Verlinsky Y, Kuliev A. Atlas of preimplantation genetic diagnosis. London, New York: Parthenon; 2000.
9. Munné S, Weier HUG, Grifo J, Cohen J. Chromosome mosaicism in human embryos. Biol Reprod 1994; 51:373-379.
10. Delhanty JDA, Griffin DK, Handyside AH. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH). Hum Molec Genet 1993; 2:1183-1185.
11. Harper JC, Coonen E, Handyside AH, et al. Mosaicism of autosomes and sex chromosomes in morphologically normal monospermic preimplantation human embryos. Prenat Diagn 1994; 15:41-49.
12. International Working Group on Preimplantation Genetics. Current status of preimplantation diagnosis. J Assist Reprod Genet 1997; 14:72-75.
13. Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online 2002; 4:183-196. This is a review of prevalence and types of chromosomal abnormalities in the preimplantation embryos detected by PGD, with its impact on implantation and pregnancy rates in low prognosis IVF patients.
14. Kuliev A, Verlinsky Y. Current feature of preimplantation genetic diagnosis. Reprod Biomed Online 2002; 5:296-301.
15. ESHRE Preimplantation Genetic Diagnosis Consortium. Data Collection III, May 2002. Hum Reprod 2002; 17:233-246.
16. Peterson MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet 2000; 91:199-203.
17. Sherman SL, Peterson MB, Freeman SB, et al. Nondisjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination. Hum Mol Genet 1994; 3:1529-1535.
18. Hassold T, Merril M, Adkins K, et al. Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. Am J Hum Genet 1995; 57:867-874.
19. Lamb NE, Freeman S, Savage-Austin A, et al. Susceptible chiasmate configurations of chromosome 21 predispose to nondisjunction in both maternal meiosis I and meiosis II. Nat Genet 1996; 14:400-405.
20. Kuliev A, Cieslak J, Illkewitch Y, Verlinsky Y. Chromosomal abnormalities in a series of 6733 human oocytes in preimplantation diagnosis of age-related aneuploidies. Reprod Biomed Online 2003; 6:54-59. This describes direct testing of the outcome of meiosis I and meiosis II through FISH analysis of PB1 and PB2 in the largest series of human oocytes, demonstrating comparable error rates in the fist and second meiotic divisions, types of errors and chromosome specific pattern of errors in the first and second meiotic divisions.
21. Munne S, Sepulveda S, Bolmaceda J, et al. Selection of the most common chromosome abnormalities in oocytes prior to ICSI. Prenat Diagn 2000; 7:582-586.
22. Gianaroli L, Magli MC, Ferraretti AP, et al. Preimplantation genetic analysis increases the implantation rate in human in vitro fertilization with poor prognosis by avoiding the transfer of chromosomally abnormal embryos. Fertil Steril 1997; 68:1128-1191.
23. Gianaroli L, Magli MC, Ferraretti AP, Munne S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with poor prognosis: identification of the categories for which it should be proposed. Fertil Steril 1999; 72:837-844.
24. Munne S, Sandalinas M, Escudero T, et al. Chromosomal mosaicism in cleavage stage human embryos: evidence of a maternal age effect. Reprod Biomed Online 2002; 4:223-232.
25. Silber S, Sadowy S, Lehahan K, et al. High rate of chromosome mosaicism but not aneuploidy in embryos from karyotypically normal men requiring TESE [abstract]. Reprod Biomed Online 2002; 4 (Suppl 2):20.
26. Eichenlaub-Ritter U, Shen Y, Tinneberg U. Manipulation of the oocytes: possible damage to the spindle apparatus. Reprod Biomed Online 2002; 5:117-124.
27. Battaglia DE, Goodwin P, Klein NA, Soules MR. Influence of maternal age on meiotic spindle assembly in oocytes from naturally cycling women. Hum Reprod 1996; 11:2217-2222.
28. Nashmyth K, Peters JM, Uhlman F. Splitting the chromosome: cutting the ties that bind sister chromatids. Science 2000; 288:1379-1384.
29. Yuan L, Liu JG, Hoja MR, et al. Female germ cell aneuploidy and embryo death in mice lacking the meiosis-specific protein SCP3. Science 2002; 296:1115-1118. This was the first demonstration of the induction of defective chromosome segregation by the absence of meiosis specific protein SCP3 in mice, with strong maternal age dependence.
30. Verlinsky Y, Evsikov S. Karyotyping of human oocytes by chromosomal analysis of the second polar body. Mol Hum Reprod 1999; 5:89-95.
31. Evsikov S, Verlinsky Y. Visualization of chromosomes of single human blastomeres. J Assist Reprod Genet 1999; 16:133-137.
32. Willadsen S, Levron J, Munne S, et al. Rapid visualization of metaphase chromosomes in single human blastomeres after fusion with in-vitro matured bovine eggs. Hum Reprod 1999; 14:470-475.
33. Marquez C, Sandalinas M, Bahce M, et al. Chromosomal abnormalities in 1255 cleavage-stage human embryos. Reprod Biomed Online 2000; 1:17-27.
34. Voullaire L, Slater H, Williamson R, Wilton L. Chromosome analysis of identified blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 2000; 106:210-217.
35. Wells D, Delhanty DA. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Molec Hum Reprod 2000; 6:1055-1062.
36. Wells D, Escudero T, Levy B, et al. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 2002; 78:543-549.
37. Ozen S, Rechitsky S, Verlinsky Y. Optimization of high-resolution single cell comparative genomic hybridization to fit in PGD framework [abstract]. Reprod Biomed Online 2002; 4 (Suppl 2):44.
38. Wilton L, Williamson R, McBain J, et al. Birth of healthy infant after preimplantation confirmation of euploidy by comparative genomic hybridization. N Engl J Med 2001; 345:1537-1541.
39. Voullaire L, Wilton L, McBain J, et al. Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure. Molec Hum Reprod 2002; 11:1035-1041.
40. Munne S, Magli C, Cohen J, et al. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod 1999; 14:2191-2199.
41. Kahraman S, Bahce M, Samli H, et al. Healthy births and ongoing pregnancies obtained by preimplantation genetic diagnosis in patients with advanced maternal age and recurrent implantation failures. Hum Reprod 2000; 15:2003-2007.
42. Verlinsky Y, Cieslak J, Ivakhnenko V, et al. Chromosomal abnormalities in the first and second polar body. Mol Cell Endocrinol 2001; 183:S47-S49.
43. rd International Symposium on Preimplantation Genetics, Bologna, Italy, June 23, 2000. J Assist Reprod Genet 2001; 18:66-72.
44. Kahraman S, Benkalifa M, Donmez E, et al. Overall results of aneuploidy screening in a Turkish population undergoing assisted reproductive techniques [abstract]. Reprod Biomed Online 2002; 4 (Suppl 2):38.
45. Staessen C, Van Assche E, Platteau P, et al. The ongoing implantation rate after blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in women over 37 years (RCT) [abstract]. Reprod Biomed Online 2002; 4 (Suppl 2):18.
46. Magli MC, Jones GM, Gras L, et al. Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 2000; 15:1781-1786.
47. Sandalinas M, Sadowy S, Alikani M, et al. Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage. Hum Reprod 2001; 16:1954-1958.