Assessment of QF-PCR as the first approach in prenatal diagnosis.
Quantitative fluorescent PCR (QF-PCR) has been used by many laboratories for prenatal diagnosis of the most common aneuploidies. QF-PCR is rapid, cost-effective, and suitable for automation and can detect most abnormalities diagnosed by conventional karyotyping. Whether QF-PCR should be used alone in most of the samples and in which karyotyping should also be offered is currently a topic of debate. We evaluated and compared the results obtained from 7679 prenatal samples in which conventional karyotype and QF-PCR had been performed, including 1243 chorionic villi and 6436 amniotic fluid samples. Concordant QF-PCR and karyotype results were obtained in 98.75% of the samples. An abnormal karyotype associated with adverse clinical outcome undetected by QF-PCR was found in 0.05% of samples. Therefore, QF-PCR can be used alone in a large number of samples studied in a prenatal laboratory, thereby reducing both the workload in cytogenetic laboratories and parental anxiety when awaiting results.
Badenas
Celia
C
Biochemistry and Molecular Genetics Service, Villarroel 170, Hospital Clínic de Barcelona, 08036 Barcelona, Spain. cbadenas@clinic.ub.es
Rodríguez-Revenga
Laia
L
Morales
Carme
C
Mediano
Carmen
C
Plaja
Alberto
A
Pérez-Iribarne
Ma Mar
MM
Soler
Anna
A
Clusellas
Núria
N
Borrell
Antoni
A
Sánchez
Ma Ángeles
MÁ
Miró
Elisabeth
E
Sánchez
Aurora
A
Milà
Montserrat
M
Jiménez
Wladimiro
W
D000653:Amniotic Fluid / Q000737:chemistry; D002824:Chorionic Villi / Q000737:chemistry; D002869:Chromosome Aberrations; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D005819:Genetic Markers