Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis.
OBJECTIVE
Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. This requires lengthy laboratory procedures and high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid and inexpensive and may potentially be suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction (F-PCR) using polymorphic small tandem repeats (STRs).


RESULTS
In this paper we present data demonstrating that fluorescent PCR amplification of STRs can be used for rapid diagnosis of trisomy 21, trisomy 18, and trisomy 13 and can be successfully applied to both prenatal diagnosis and diagnosis of single cells. This study also reports significant numbers of prenatal diagnoses using quantitative fluorescent PCR.


CONCLUSIONS
We believe that further studies of greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for trisomy diagnosis from single cells using multiple STR markers for either preimplantation genetic diagnosis or, potentially, diagnosis from fetal cells isolated from maternal blood.
Findlay
I
I
Institute of Pathology, Leeds University, UK.
Tóth
T
T
Matthews
P
P
Marton
T
T
Quirke
P
P
Papp
Z
Z
D002877:Chromosomes, Human / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D017931:DNA Primers; D005260:Female; D005456:Fluorescent Dyes; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics
D017931:DNA Primers; D005456:Fluorescent Dyes; D005819:Genetic Markers