Rapid diagnostics of the most frequent fetal aneuploidies with QF-PCR method – study of 100 cases

Łaczmańska, Izabela; Gil, Justyna; Stembalska, Agnieszka; Makowska, Izabela; Kozłowska, Joanna; Skiba, Paweł; Czemarmazowicz, Halina; Pesz, Karolina; Slęzak, Ryszard; Śmigiel, Robert; Jakubiak, Aleksandra; Doraczyńska-Kowalik, Anna; Sąsiadek, Maria M.

doi:10.17772/gp/59024

Cited by 3 publications

(3 citation statements)

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“…Additionally, one Turner mosaic sample was revealed to be normal in QF-PCR testing. This result is in accordance with the literature and can be explained by lower rates of mosaic cells (less than 15%) 19-22.…”

Section: Discussionsupporting

confidence: 93%

“…This difference in the prevalence of aneuploidy could be explained by the indication of the karyotype that was primarily due to fetal malformation in our study. Łaczmańska et al 19 analyzed 100 samples of amniotic fluid and obtained compatibility in 95 cases (95%), which agrees with our study due to the higher number of chromosomal abnormalities, which were found in 28 pregnancies (29.5%).…”

Section: Discussionsupporting

confidence: 91%

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Validation of QF-PCR for prenatal diagnoses in a Brazilian population

Moraes¹,

Carvalho²,

Amorim-Filho³

et al. 2017

Clinics

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OBJECTIVES:Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory.METHOD:A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes.RESULTS:A total of 162 amniotic fluid samples analyzed using multiplex QF-PCR were compared with karyotyping analysis. The QF-PCR results were consistent with the results of cytogenetic analysis in 95.4% of all samples.CONCLUSION:QF-PCR was demonstrated to be efficient and reliable for prenatal aneuploidy screening. This study suggests that QF-PCR can be used as a rapid diagnostic method. However, rearrangements and some mosaic samples cannot be detected with this test; thus, those exceptions must undergo cytogenetic analysis.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionsupporting

confidence: 91%

Validation of QF-PCR for prenatal diagnoses in a Brazilian population

Moraes¹,

Carvalho²,

Amorim-Filho³

et al. 2017

Clinics

View full text Add to dashboard Cite

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“…Lildballe et al analyzed 2550 samples from chorionic villus sampling (CVS) and amniotic fluid from high-risk pregnancies and reported positive and negative predictive values greater than 99.8% [6]. Łaczmańska et al [7] analyzed 100 samples of amniotic fluid and reported concordance in 95 cases (95%). Rostami et al [8] reported 4058 samples analyzed for QF-PCR with a concordance of 98.59%.…”

Section: Discussionmentioning

confidence: 99%

PCR vs karyotype for CVS and amniocentesis—the experience at one tertiary fetal medicine unit

et al. 2021

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Purpose Despite the rise of non-invasive screening tests for fetal aneuploidy, invasive testing during pregnancy remains the definitive diagnostic tool for fetal genetic anomalies. Results are rapidly available with polymerase chain reaction (PCR) tests, but cases have been reported whereby initial results were not confirmed after pregnancy termination and the fetal karyotype was ultimately normal. We sought to examine the potential discordance between PCR and karyotype for fetal aneuploidy. Methods The results from all amniocentesis and CVS tests performed over a 6-year period in a large tertiary level fetal medicine unit were reviewed. The results of PCR and karyotype were recorded and discrepancies examined. Pregnancy outcomes were also recorded. Results A total of 1222 invasive tests were performed (716 amniocentesis and 506 CVS). Within the cohort having amniocentesis, 11 had discrepant results (normal QF-PCR result but with a subsequent abnormal karyotype). There was 1 case among this group which QF-PCR should have identified. Within the CVS group, 7 patients had discrepant results. All had a diploid QF-PCR and would not have been identified as abnormal by it. Conclusion PCR can be reliably used to determine aneuploidy of chromosomes 13, 18, and 21. However, in cases of sex chromosome aneuploidy, its performance is less reliable and warrants waiting for a complete karyotype. Given such discordance, we advise waiting for karyotype for all invasive tests performed in the presence of a normal ultrasound before advising a patient of a diploid QF-PCR result or potentially terminating a normal pregnancy.

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