Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex.
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.


METHODS
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.


CONCLUSIONS
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.
Pertl
B
B
Department of Obstetrics and Gynecology, University of Graz, Austria.
Kopp
S
S
Kroisel
P M
PM
Häusler
M
M
Sherlock
J
J
Winter
R
R
Adinolfi
M
M
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D004247:DNA / Q000032:analysis / Q000097:blood; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005456:Fluorescent Dyes; D005819:Genetic Markers; D005865:Gestational Age; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012091:Repetitive Sequences, Nucleic Acid; D012732:Sex Determination Analysis / Q000379:methods*; D014960:X Chromosome
D005456:Fluorescent Dyes; D005819:Genetic Markers; D004247:DNA