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

T. Tóth, Ian Findlay, C. Papp, E. Tóth-Pál, Tamás Marton, B. Nagy, Philip Quirke, Z. Papp

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

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 amniocyle 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.

Original languageEnglish
Pages (from-to)669-674
Number of pages6
JournalPrenatal Diagnosis
Volume18
Issue number7
DOIs
Publication statusPublished - Jul 1998

Fingerprint

Amniotic Fluid
Polymerase Chain Reaction
Tandem Repeat Sequences
Trisomy
Alleles
Karyotyping
Cytogenetic Analysis
Prenatal Diagnosis
Pregnant Women
Costs and Cost Analysis
Trisomy 13 syndrome
DNA

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction. / Tóth, T.; Findlay, Ian; Papp, C.; Tóth-Pál, E.; Marton, Tamás; Nagy, B.; Quirke, Philip; Papp, Z.

In: Prenatal Diagnosis, Vol. 18, No. 7, 07.1998, p. 669-674.

Research output: Contribution to journalArticle

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