Abstract
Purpose and Methods: Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. This requires lengthy laboratory procedures and high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid and inexpensive and may potentially be suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction (F-PCR) using polymorphic small tandem repeats (STRs).
Results: In this paper we present data demonstrating that fluorescent PCR amplification of STRs can be used for rapid diagnosis of trisomy 21, trisomy 18, and trisomy 13 and can be successfully applied to both prenatal diagnosis and diagnosis of single cells. This study also reports significant numbers of prenatal diagnoses using quantitative fluorescent PCR.
Conclusions: We believe that further studies of greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for trisomy diagnosis from single cells using multiple STR markers for either preimplantation genetic diagnosis or, potentially, diagnosis from fetal cells isolated from maternal blood.
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REFERENCES
Findlay I, Urquhart A, Quirke P, Sullivan KM, Rutherford AJ, Lilford R: Simultaneous DNA fingerprinting, diagnosis of sex and single-gene defect status from a single cell. Hum Reprod 1995;10:1005-1013
Findlay I, Frazier R, Taylor A, Quirke P, Urquhart A: Single cell DNA fingerprinting for forensic applications. Nature 1997;389:355-356
Mansfield ES: Diagnosis of Down syndrome and other aneuploidies using quantitative PCR and small tandem repeat polymorphisms. Hum Mol Genet 1993;2:43-50
Eggeling F, Freytag M, Fahsold R, Horsthemke B, Claussen U: Rapid detection of trisomy 21 by quantitative PCR. Hum Genet 1993;91:567-570
Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M: Rapid molecular method for prenatal detection of Down's syndrome. Lancet 1994;343:1197-1198
Pertl B, Weitgasser U, Kopp S, Kroisel PM, Sherlock J, Adinolfi M: Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR. Hum Genet 1996;98:55-59
Adinolfi M, Sherlock J, Pertl B: Rapid detection of selected aneuploidies by quantitative fluorescent PCR. Bioessays 1995;17:661-664
Tóth T, Findlay I, Papp C, Tóth-Pál E, Marton T, Nagy B, Quirke P, Papp P: Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. J Med Genet (in press)
Tóth T, Findlay I, Papp C, Tóth-Pál E, Marton T, Nagy B, Quirke P, Papp P: Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction. Prenatal Diagn (in press)
Tóth T, Findlay I, Nagy B, Quirke P, Papp Z: Quantitative fluorescent polymerase chain reaction for rapid prenatal detection of trisomies 21, 18 and 13 from amniotic fluid. Am J Hum Genet (in press) (abstr)
Findlay I, Guillano M, Quirke P: Using fluorescent PCR to detect trisomies in 2–5 cells: Implications for prenatal diagnosis. Czech J Pediatr (in press)
Kotzot D, Bundscherer G, Bernasconi F, Brecevic L, Lurie IW, Basaran S, et al.: Isochromosome 18P results from maternal meiosis-II nondisjunction. Eur J Hum Genet 1996;4:168-174
Sharma V, Litt M: Tetranucleotide repeat polymorphism at the D21S11 locus. Hum Mol Genet 1992;1:67
Hattori M, Yoshioka K, Sakaki Y: Highly-sensitive fluorescent DNA sequencing and its application for detection and mass-screening of point mutations. Electrophoresis 1992;13(8):560-565
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Findlay, I., Tóth, T., Matthews, P. et al. Rapid Trisomy Diagnosis (21, 18, and 13) Using Fluorescent PCR and Short Tandem Repeats: Applications for Prenatal Diagnosis and Preimplantation Genetic Diagnosis. J Assist Reprod Genet 15, 266–275 (1998). https://doi.org/10.1023/A:1022536309381
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DOI: https://doi.org/10.1023/A:1022536309381