Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Pertl, B; Kopp, S; Kroisel, PM; Häusler, M; Sherlock, J; Winter, R; Adinolfi, M.
Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex.
Am J Obstet Gynecol. 1997; 177(4):899-906
Doi: 10.1016/S0002-9378(97)70292-8
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- Führende Autor*innen der Med Uni Graz
- Pertl Barbara
- Co-Autor*innen der Med Uni Graz
- Haeusler Martin
- Kroisel Peter
- Winter Raimund
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- Abstract:
- OBJECTIVE: We have developed a quantitative fluorescence multiplex polymerase chain reaction assay for the rapid detection of sex and aneuploidies involving chromosomes 21, 18, and 13. STUDY DESIGN: Samples of deoxyribonucleic acid (n = 85) extracted from amniotic fluid, fetal tissues, and blood were investigated by multiplex polymerase chain reaction amplification of polymorphic small tandem repeat markers specific for chromosomes 21, 18, 13, and X. RESULTS: Quantitative analysis of the polymerase chain reaction products allowed us to distinguish between normal samples and samples with autosomal trisomies while sexing was performed simultaneously. From 85 samples only three produced unsatisfactory results with one of the two chromosome 13-specific markers. In these three cases the amplification of the other chromosome 13 marker always resulted in a correct normal pattern. CONCLUSION: Quantitative fluorescence multiplex polymerase chain reaction is a reliable and rapid method that allows prenatal diagnosis of the major numeric chromosomal abnormalities to be performed within 24 hours.
- Find related publications in this database (using NLM MeSH Indexing)
- Amniocentesis -
- Amniotic Fluid - chemistry
- Aneuploidy - chemistry
- Chromosomes, Human, Pair 13 - chemistry
- Chromosomes, Human, Pair 18 - chemistry
- Chromosomes, Human, Pair 21 - chemistry
- DNA - analysis
- Down Syndrome - diagnosis
- Electrophoresis, Polyacrylamide Gel - diagnosis
- Female - diagnosis
- Fluorescent Dyes - diagnosis
- Genetic Markers - diagnosis
- Gestational Age - diagnosis
- Humans - diagnosis
- Polymerase Chain Reaction - diagnosis
- Pregnancy - diagnosis
- Prenatal Diagnosis - methods
- Repetitive Sequences, Nucleic Acid - methods
- Sex Determination (Analysis) - methods
- X Chromosome - methods
- Find related publications in this database (Keywords)
- Prenatal Diagnosis
- Trisomy
- Quantitative Fluorescence Polymerase Chain Reaction
- PCR