Prenatal Diagnosis of Common Aneuploidies Using Multiplex Quantitative Fluorescent Polymerase Chain Reaction

Abstract

Objective: Prenatal diagnosis of foetal trisomies is usually performed by cytogenetic analysis. This requires lengthy laboratory procedures and it is expensive. Here, we report a retrospective study of quantitative fluorescent polymerase chain reaction (QF-PCR) for prenatal detection of trisomies 13, 18 and 21. Methods: QF-PCR was performed on a total of 447 amniotic fluids blindly analysed without any knowledge of the cytogenetic results and 43 samples with known karyotype. All samples were tested with at least 4 small tandem repeat markers specific for each chromosome 13, 18 or 21. Results: QF-PCR results on amniotic fluid were consistent with conventional cytogenetic data. QF-PCR detected 5 cases of trisomy 21, 2 cases of trisomy 18, 1 case of trisomy 13 and 1 case with Klinefelter’s syndrome. Conclusions: QF-PCR has proved to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling and thus reduces parental anxiety.

QF-PCR as a molecular-based method for autosomal aneuploidies detection

“…QF-PCR tests are now performed in several prenatal centres in Europe for the detection of major numerical abnormalities affecting chromosomes 21, 18, 13, X and Y, with results provided within a 24 h period [6][7][8][9][10][11][12][13]. Despite the wide range of microsatellite marker multiplexes used by these laboratories, the assays are reported as both robust and reliable [4].…”

New trends in non-invasive prenatal diagnosis: Applications of dielectrophoresis-based Lab-on-a-chip platforms to the identification and manipulation of rare cells (Review)

“…The isolation of rare cells from maternal blood for noninvasive prenatal diagnosis is a new field of research exhibiting several difficulties since this strategy requires several basic technological protocols for a successful outcome (19,45,46,48,50,52,62,68,(104)(105)(106)(107)(108)(109)(110)(111)(112).…”

Place de la biologie dans le diagnostic prénatal

“…S'il semble évident que les anomalies de structure ne sont décelables que par l'analyse du caryotype conventionnel, les anomalies de nombre (aneuploïdies) peuvent, en revanche, être détectées soit par FISH soit par QF-PCR multiplex [14,33].…”