Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction

Prenatal Diagnosis

Volumn 18, Issue 7, 1998, Pages 669-674

  Tóth, Tamás ^a   Findlay, Ian ^b   Papp, Csaba ^a   Tóth Pál, Ernö ^a   Marton, Tamás ^a   Nagy, Bálint ^a   Quirke, Philip ^b   Papp, Zoltán ^a  

^a SEMMELWEIS UNIVERSITY OF MEDICINE   (Hungary)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

D13S258; D13S631; Fluorescent polymerase chain reaction; Patau syndrome; Prenatal diagnosis; Trisomy 13

Indexed keywords

AMNION FLUID; ARTICLE; CASE REPORT; FETUS; FETUS KARYOTYPING; FLUORESCENCE; HUMAN; INTERMETHOD COMPARISON; PATAU SYNDROME; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE ASSAY; TANDEM REPEAT; TRISOMY 13;

AMNIOCENTESIS; AMNIOTIC FLUID; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; FLUORESCENT DYES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; POLYMERASE CHAIN REACTION; PREGNANCY; TANDEM REPEAT SEQUENCES; TRISOMY;

EID: 2642709215     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199807)18:7<669::AID-PD324>3.0.CO;2-P     Document Type: Article

References (20)

1. Adinolfi, M., Sherlock, J., Pertl, B. (1995). Rapid detection of selected aneuploidies by quantitative fluorescent PCR, Bioessays, 17, 661-664.
2. Cheung, M.-C., Goldberg, J.D., Kan, Y.W. (1996). Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood, Nat. Genet., 14, 264-268.
3. Chu, T.W., Teebi, A.S., Gibson, L., Breg, W.R., Yang-Feng, T.L. (1994). FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype, Am. J. Med. Genet., 52, 92-96.
4. Eggeling, F., Freytag, M., Fahsold, R., Horsthemke, B., Claussen, U. (1993). Rapid detection of trisomy 21 by quantitative PCR, Hum. Genet., 91, 567-570.
5. Ferguson-Smith, M.A., Yates, J.R.W. (1984). Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52965 amniocenteses, Prenat. Diagn., 4, 5-44.
6. Findlay, I., Quirke, P. (1996). Fluorescent polymerase chain reaction: part I. A new method allowing genetic diagnosis and DNA fingerprinting of single cells, Hum. Reprod. Update, 2, 137-152.
7. Findlay, I., Urquhart, A., Quirke, P., Sullivan, K.M., Rutherford, A.J., Lilford, R. (1995). Simultaneous DNA fingerprinting, diagnosis of sex and single-gene defect status from a single cell, Hum. Reprod., 10, 1005-1013.
8. Hassold, T., Jacobs, P.A., Leppert, M., Sheldon, M. (1987). Cytogenetic and molecular studies of trisomy 13, J. Med. Genet., 24, 725-732.
9. Hook, E.B. (1981). Rates of chromosome abnormalities at different maternal ages, Obstet. Gynecol., 58, 282-285.
10. Hook, E.B. (1983). Down syndrome rates and relaxed selection at older maternal ages, Am. J. Hum. Genet., 35, 1307-1313.
11. Hook, E.B. (1992). Chromosome abnormalities. In: Brock, D. J. H., Rodeck, C. H., Ferguson-Smith, M. A. (Eds). Prenatal Diagnosis and Screening, Edinburgh: Churchill Livingstone.
12. Jacobs, P.A., Hassold, T.J., Henry, A., Pettay, D., Takaesu, N. (1987). Trisomy 13 ascertained in a survey of spontaneous abortions, J. Med. Genet., 24, 721-724.
13. Kuo, W.L., Tenjin, H., Segraves, R., Pinkel, D., Golbus, M.S., Gray, J. (1991). Detection of aneuploidy involving chromosomes 13, 18 or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes, Am. J. Hum. Genet., 49, 112-119.
14. Mansfield, E.S. (1993). Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms, Hum. Mol. Genet., 2, 43-50.
15. Pertl, B., Weitgasser, U., Kopp, S., Kroisel, P.M., Sherlock, J., Adinolfi, M. (1996). Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR, Hum. Genet., 98, 55-59.
16. Pertl, B., Yau, S.C., Sherlock, J., Davies, A.F., Mathew, C.G., Adinolfi, M. (1994). Rapid molecular method for prenatal detection of Down's syndrome, Lancet, 343, 1197-1198.
17. Rao, V.V., Carpenter, N.J., Gucsavas, M., Coldwell, J., Say, B. (1995). Partial trisomy 13q identified by sequential fluorescence in situ hybridization, Am. J. Med. Genet., 58, 50-53.
18. Roberts, S.H., Little, E., Vaughan, M., Creasy, M.R., Jones, A., Powell, T.G., Dawson, A.J. (1993). Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid, Prenat. Diagn., 13, 971-975.
19. Sharma, V., Litt, M. (1992). Tetranucleotide repeat polymorphism at the D21S11 locus, Hum. Mol. Genet., 1, 67.
20. The Utah marker development group (1995). A collection of ordered teranucleotide-repeat markers from the human genome, Am. J. Hum. Genet., 57, 619-628.