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Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction
Author(s) -
Tóth Tamás,
Findlay Ian,
Papp Csaba,
TóthPál Ernö,
Marton Tamás,
Nagy Bálint,
Quirke Philip,
Papp Zoltán
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199807)18:7<669::aid-pd324>3.0.co;2-p
Subject(s) - trisomy , amniotic fluid , prenatal diagnosis , polymerase chain reaction , aneuploidy , amniocentesis , microsatellite , microbiology and biotechnology , biology , karyotype , fetus , genetics , allele , chromosome , pregnancy , gene
Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large‐scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1. © 1998 John Wiley & Sons, Ltd.