Tags

Type your tag names separated by a space and hit enter

Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening.
Dan Med J 2014; 61(11):A4964DM

Abstract

INTRODUCTION

We aimed to determine the diagnostic efficiency of quantitative fluorescence polymerase chain reaction (QF-PCR) in a clinical setting where most of the analyses are performed on chorion villus samples from high-risk pregnancies as determined by combined first-trimester screening.

METHODS

A retrospective study on QF-PCR data from all pregnancies in the Central and North Denmark Regions over a four-year period (n = 2,550) with invasive prenatal testing carried out due to a high risk of carrying a foetus with Down's syndrome. Results of QF-PCR were compared with those obtained by karyotyping. Other supplementary data were obtained from the Danish Foetal Medicine Database and the Danish Cytogenetic Central Register.

RESULTS

QF-PCR for common aneuploidies is fast, has a low failure rate, and is associated with high positive and negative predictive values (PPV, NPV) (> 99.8%) for all analysed abnormal karyotypes except for mosaicism for trisomy 13 (PPV = 20%) and sex chromosome mosaic cases (PPV = 40%; NPV = 99.7%)). In 25 (1%) cases, clinically significant chromosome abnormalities other than chromosomes 13, 18, 21, X, and Y were identified by karyotyping.

CONCLUSION

QF-PCR is a rapid and accurate diagnostic method to detect common aneuploidies in high-risk pregnancies. However, the rapid test cannot stand alone as several clinically significant abnormal karyotypes would be overlooked.

FUNDING

not relevant.

TRIAL REGISTRATION

not relevant.

Authors+Show Affiliations

Klinisk Genetisk Afdeling, Aarhus Universitetshospital, Brendstrupgårdsvej 21 C, 8200 Aarhus N, Denmark. dolild@rm.dk.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

25370964

Citation

Lildballe, Dorte Launholt, et al. "Diagnostic Performance of Quantitative Fluorescence PCR Analysis in High-risk Pregnancies After Combined First-trimester Screening." Danish Medical Journal, vol. 61, no. 11, 2014, pp. A4964.
Lildballe DL, Vogel I, Petersen OB, et al. Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening. Dan Med J. 2014;61(11):A4964.
Lildballe, D. L., Vogel, I., Petersen, O. B., & Vestergaard, E. M. (2014). Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening. Danish Medical Journal, 61(11), pp. A4964.
Lildballe DL, et al. Diagnostic Performance of Quantitative Fluorescence PCR Analysis in High-risk Pregnancies After Combined First-trimester Screening. Dan Med J. 2014;61(11):A4964. PubMed PMID: 25370964.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening. AU - Lildballe,Dorte Launholt, AU - Vogel,Ida, AU - Petersen,Olav Bjørn, AU - Vestergaard,Else Marie, PY - 2014/11/6/entrez PY - 2014/11/6/pubmed PY - 2015/7/16/medline SP - A4964 EP - A4964 JF - Danish medical journal JO - Dan Med J VL - 61 IS - 11 N2 - INTRODUCTION: We aimed to determine the diagnostic efficiency of quantitative fluorescence polymerase chain reaction (QF-PCR) in a clinical setting where most of the analyses are performed on chorion villus samples from high-risk pregnancies as determined by combined first-trimester screening. METHODS: A retrospective study on QF-PCR data from all pregnancies in the Central and North Denmark Regions over a four-year period (n = 2,550) with invasive prenatal testing carried out due to a high risk of carrying a foetus with Down's syndrome. Results of QF-PCR were compared with those obtained by karyotyping. Other supplementary data were obtained from the Danish Foetal Medicine Database and the Danish Cytogenetic Central Register. RESULTS: QF-PCR for common aneuploidies is fast, has a low failure rate, and is associated with high positive and negative predictive values (PPV, NPV) (> 99.8%) for all analysed abnormal karyotypes except for mosaicism for trisomy 13 (PPV = 20%) and sex chromosome mosaic cases (PPV = 40%; NPV = 99.7%)). In 25 (1%) cases, clinically significant chromosome abnormalities other than chromosomes 13, 18, 21, X, and Y were identified by karyotyping. CONCLUSION: QF-PCR is a rapid and accurate diagnostic method to detect common aneuploidies in high-risk pregnancies. However, the rapid test cannot stand alone as several clinically significant abnormal karyotypes would be overlooked. FUNDING: not relevant. TRIAL REGISTRATION: not relevant. SN - 2245-1919 UR - https://www.unboundmedicine.com/medline/citation/25370964/Diagnostic_performance_of_quantitative_fluorescence_PCR_analysis_in_high_risk_pregnancies_after_combined_first_trimester_screening_ L2 - http://ugeskriftet.dk/dmj/A4964 DB - PRIME DP - Unbound Medicine ER -