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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Prenatal Diagnosisarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Prenatal Diagnosis
Article . 2012 . Peer-reviewed
License: Wiley Online Library User Agreement
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Dual testing with QF‐PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13 500 cases with consideration of using QF‐PCR as a stand‐alone test according to referral indications

Authors: Ioannis, Papoulidis; Elisavet, Siomou; Alexandros, Sotiriadis; George, Efstathiou; Anastasia, Psara; Eirini, Sevastopoulou; Eleftherios, Anastasakis; +8 Authors

Dual testing with QF‐PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13 500 cases with consideration of using QF‐PCR as a stand‐alone test according to referral indications

Abstract

ABSTRACTObjectiveEvaluate the results obtained from Quantitative Fluorescent (QF)‐PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis.MethodsFrom 1 June 2006 to 1 June 2010, dual testing by QF‐PCR and karyotype analysis was performed in 13 500 prenatal samples. The rates of concordant results between the two methods were evaluated and the rates of clinically significant chromosomal abnormalities undetected by QF‐PCR were assessed.ResultsAbnormal karyotype was found in 320 out of 13 500 cases (2.37%, 95% confidence interval (CI) 2.11–2.63%). From these, QF‐PCR did not detect the abnormality in 70 cases (0.52%, 95% CI 0.4–0.64%), whereas 34 had a high/unknown risk of adverse outcome (0.25%, 95% CI 0.17–0.33%). By selectively applying dual testing only at cases with ultrasound findings and/or genetic history, 13 cases of high/unknown risk would have been missed (0.1%, 95% CI 0.05–0.15%).ConclusionSelective dual testing is expected to achieve a serious beneficial economical outcome and reduce parental anxiety produced by ambiguous cytogenetic findings. However, the percentage of 0.1% undetected clinically significant abnormalities cannot be ignored. A suggestion would include the offering of a choice to the pregnant women, undergoing prenatal screening, by informing them about different approaches and various complications. © 2012 John Wiley & Sons, Ltd.

Keywords

Chromosome Aberrations, Chromosome Disorders, Polymerase Chain Reaction, Sensitivity and Specificity, Chorionic Villi Sampling, Pregnancy, Karyotyping, Prenatal Diagnosis, Amniocentesis, Humans, Female, Microsatellite Repeats

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
24
Top 10%
Top 10%
Top 10%
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