Diagnosis of trisomy 21 in preimplantation embryos by single-cell DNA fingerprinting

Reproductive biomedicine online

Volumn 4, Issue 1, 2002, Pages 43-50

  Katz, M G ^a   Mansfield, J ^b   Gras, L ^b   Trounson, A O ^a   Cram, D S ^a,b  

^a MONASH UNIVERSITY   (Australia)

^b MONASH IVF   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; BLASTOCYST; CHROMOSOME 21; CYTOLOGY; DNA FINGERPRINTING; DOWN SYNDROME; GENETIC MARKER; GENETICS; HUMAN; METHODOLOGY; MOUTH MUCOSA; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS;

BLASTOCYST; CHROMOSOMES, HUMAN, PAIR 21; DNA FINGERPRINTING; DOWN SYNDROME; GENETIC MARKERS; HUMANS; MICROSATELLITE REPEATS; MOUTH MUCOSA; POLYMERASE CHAIN REACTION; PREIMPLANTATION DIAGNOSIS;

EID: 0038769967     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)61914-1     Document Type: Article

References (37)

1. SE Antonarakis MB Petersen MG McInnis The meiotic stage of non-disjunction in trisomy 21: Determination by using DNA polymorphisms American Journal of Human Genetics 50 1992 544 550
2. MM Bielanska SL Tan A Ao Significance of mosaicism in the human preimplantation embryo Human Reproduction 15 Abstract Book 1 2000 12
3. D Blake SL Tan A Ao Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects Molecular Human Reproduction 5 1999 1166 1175
4. A Boué J Boué A Grapp Cytogenetics of pregnancy wastage Advances in Human Genetics 14 1985 1 57
5. V Cirigliano M Ejarque MP Canadas Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies Molecular Human Reproduction 7 2001 1001 1006
6. E Coonen AH Hopman JP Geraedts Application of in-situ hybridization techniques to study human preimplantation embryos: a review Human Reproduction Update 4 1998 135 152
7. MA Damario OK Davis Z Rosenwaks The role of maternal age in the assisted reproductive technologies Reproductive Medicine Review 7 1999 41 60
8. JD Delhanty Preimplantation diagnosis Prenatal Diagnosis 14 1994 1217 1227
9. JD Delhanty JC Harper Pre-implantation genetic diagnosis Baillieres Best Practice Research. Clinical Obstetrics and Gynaecology 14 2000 691 708
10. I Findlay P Matthews P Quirke Preimplantation genetic diagnosis using fluorescent polymerase chain reaction: results and future developments Journal of Assisted Reproduction and Genetics 16 1999 199 206
11. I Findlay T Toth P Matthews Rapid trisomy diagnosis (21, 18 and13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis Journal of Assisted Reproduction and Genetics 15 1998 266 275
12. I Findlay A Urquhart P Quirke Simultaneous DNA ‘fingerprinting’, diagnosis of sex and single-gene defect status from single cells Molecular Human Reproduction 10 1995 1005 1013
13. L Gianaroli MC Magli AP Ferraretti Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed Fertility and Sterility 72 1999 837 844
14. V Goossens K Sermon W Lissens Clinical application of preimplantation genetic diagnosis for cystic fibrosis Prenatal Diagnosis 20 2000 571 581
15. JC Harper E Coonen AH Handyside Mosaicism of autosomes and sex chromosomes in morphologically normal monospermic preimplantation human embryos Prenatal Diagnosis 15 1995 41 49
16. EB Hook Rates of chromosome abnormalities at different maternal ages Obstetrics and Gynecology 58 1981 282 285
17. EB Hook PK Cross Spontaneous abortion and subsequent Down syndrome livebirth Human Genetics 64 1983 267 270
18. E Iwarsson M Lundqvist J Inzunza A high degree of aneuploidy in frozen-thawed human preimplantation embryos Human Genetics 104 1999 376 382
19. HC Kuo CM Ogilvie AH Handyside Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis Journal of Assisted Reproduction and Genetics 15 1998 276 280
20. MC Magli GM Jones L Gras Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Human Reproduction 15 2000 101 106
21. ES Mansfield Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms Human Molecular Genetics 2 1993 43 50
22. C Márquez M Sandalinas M Bahçe Chromosome abnormalities in 1255 cleavage-stage human embryos Reproductive BioMedicine Online 1 2000 17 26
23. M Mikkelsen A Hallberg H Poulsen Epidemiological study of Down's syndrome in Denmark, including family studies of chromosomes and DNA markers Developmental Brain Dysfunction 8 1995 4 12
24. S Mulvey EM Wallace Levels of knowledge of Down syndrome and Down syndrome testing in Australian women Australian and New Zealand Journal of Obstetrics and Gynaecology 41 2001 167 169
25. S Munné C Magli J Cohen Positive outcome after preimplantation diagnosis of aneuploidy in human embryos Human Reproduction 14 1999 2191 2199
26. S Munné H Weier J Grifo Chromosome mosaicism in human embryos Biology of Reproduction 51 1994 373 379
27. B Pertl SC Yau J Sherlock Rapid molecular method for prenatal detection of Down's syndrome Lancet 14 1994 1197 1198
28. MB Petersen M Mikkelsen Nondisjunction in trisomy 21: Origin and mechanisms Cytogenetics and Cellular Genetics 91 2000 199 203
29. W Piyamongkol JC Harper JD Delhanty Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemias using multiplex fluorescent PCR Prenatal Diagnosis 21 2001 753 759
30. PF Ray A Ao DM Taylor Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the DF508 deletion causing cystic fibrosis in clinical practice Prenatal Diagnosis 18 1998 1402 1412
31. Report of the 11th Annual Meeting of International Working Group on Preimplantation Genetics Preimplantation Genetic Diagnosis: experience of 3000 clinical cycles Reproductive BioMedicine Online 3 2001 49 53
32. J Sherlock V Cirigliano M Petrou Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells Annals of Human Genetics 62 1998 9 23
33. YH Tsai Cost-effective one-step PCR amplification of cystic fibrosis delta F508 fragment in a single cell for preimplantation genetic diagnosis Prenatal Diagnosis 19 1999 1048 1051
34. Y Verlinsky A Kuliev Preimplantation Genetic Diagnosis Reproductive Medicine Review 7 1999 1 10
35. Y Verlinsky J Cieslak V Ivakhnenko Implantation diagnosis of common aneuploidies by the first and second-polar body FISH analysis Journal of Assisted Reproduction and Genetics 15 1998 285 289
36. L Voullaire H Slater R Williamson Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization Human Genetics 106 2000 210 217
37. D Wells JD Delhanty Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization Molecular Human Reproduction 6 2000 1055 1062