The replacement of cytogenetic analysis by direct chorionic villi sampling preparation with quantitative fluorescence PCR.
OBJECTIVE
The aim of this study is to assess the replacement of chromosomal analysis of chorionic villi (CV) direct preparation samples (DIR) by quantitative fluorescence PCR (QF-PCR) and to determine its advantages in routine prenatal diagnosis.


METHODS
From a total of 4,020 CV samples, rapid results were obtained either by conventional cytogenetic analysis of DIR in 2,770 samples, or by QF-PCR analysis in 1,250 samples. The final results were given after long-term culture (LTC).


RESULTS
The frequencies of unbalanced fetal karyotypes were not significantly different, being 4.8% by DIR-LTC and 4.3% by QF-PCR-LTC. No false-negative or false-positive results were obtained from either approach.


CONCLUSIONS
QF-PCR can replace chromosomal analysis of CV-DIR in most cases during routine prenatal diagnosis, requiring smaller CV samples and being more labor effective. Coupled with LTC, it is a robust diagnostic approach with high predictive value for the most frequent fetal trisomies.
Department of Genetics and Molecular Biology at Mitera General, Maternity, and Pediatric Clinic, Athens, Greece.
S
S
Christopoulou
G
G
Christopoulou
A
A
Hatzaki
A
A
Hatzipouliou
J
J
Donoghue
M
M
Karkaletsi
P
P
Kaminopetros
S
S
Sifakis
V
V
Velissariou
D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000196:embryology*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D020732:Cytogenetic Analysis; D005260:Female; D005456:Fluorescent Dyes; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy
D005456:Fluorescent Dyes