[Detection of chromosomal aneuploidies in fetus by multiplex Q-PCR method].
With application of the quantitative PCR, Q-PCR, two cases of aneuploidy: trisomy 18 and trisomy 21 were detected in the course of routine prenatal diagnosis in amniotic cells DNA obtained from 1.5 ml of the amniotic fluid. The conventional cytogenetic methods confirmed the diagnosis and the following karyotypes were established: 47,XY,+21 and 47,XX,+13. The presented results show that by means of the Q-PCR the aneuploidy diagnosis can be obtained within 48 hours.
Helszer
Zofia
Z
Katedry Genetyki, Zakładu Genetyki Medycznej AM w łodzi.
Nowacka
Joanna
J
Kałuzewski
Bogdan
B
D000328:Adult; D000649:Amniocentesis; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D017931:DNA Primers; D005260:Female; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics
D017931:DNA Primers