The combined QF-PCR and cytogenetic approach in prenatal diagnosis

Tekcan, Akın; Tural, Sengul; Elbistan, Mehmet; Kara, Nurten; Güven, Davut; Koçak, İ̇dris

doi:10.1007/s11033-014-3630-7

Cited by 15 publications

(18 citation statements)

References 21 publications

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“…Rostami et al 12 reported 4,058 samples analyzed for QR-PCR with a detection rate of 98.59%. Tekcan et al 18 compared 100 amniotic fluid samples with karyotype results and obtained 99% concordance on 100 samples, including 4 abnormalities. These three authors reported higher detection rates than in our study; however, the percentages of total chromosomal abnormalities in these studies were 7.6% and 4.1%, respectively, whereas in the current study, approximately half of the population was abnormal.…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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

Moraes¹,

Carvalho²,

Amorim-Filho³

et al. 2017

Clinics

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“…In one of those studies, a cytogenetic result could be obtained in 98.8% of the 6124 cases evaluated by using AC [24]. In another study the culture success rate was 99% [25]. However, these studies reported only amniocentesis data.…”

Section: Discussionmentioning

confidence: 99%

20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey

Durmaz¹,

Bolat²,

Cengisiz³

et al. 2021

Turk J Med Sci

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Background/aim: Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center. Materials and methods: The records of 8363 amniocenteses, 626 chorionic villus and 308 cordocenteses samples were retrospectively evaluated and analyzed regarding referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analyses were performed to give the statistical likelihood of different events. Results: The number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21-25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36-40, 5 times higher in 41-45 and 10-fold in 46-50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cutoff value above and below 1/250 in maternal serum screening test were significant. Conclusion: These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies.

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“…Rostami et al [8] reported 4058 samples analyzed for QF-PCR with a concordance of 98.59%. Tekcan et al [9] compared 100 amniotic fluid samples with karyotype results and obtained 99% concordance on 100 samples, including 4 abnormalities. More recently, Sun et al also found QF-PCR was comparable to conventional cytogenetic testing [10].…”

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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The combined QF-PCR and cytogenetic approach in prenatal diagnosis

Cited by 15 publications

References 21 publications

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

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

20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey

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

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