Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening

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 - 2014/11/1

Y1 - 2014/11/1

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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Aneuploidy

KW - Chromosome Disorders/diagnosis

KW - Chromosomes, Human, Pair 13

KW - Chromosomes, Human, Pair 18

KW - Denmark

KW - Down Syndrome/diagnosis

KW - Female

KW - Fluorescence

KW - Humans

KW - Karyotyping/methods

KW - Middle Aged

KW - Polymerase Chain Reaction/methods

KW - Pregnancy

KW - Pregnancy Trimester, First/blood

KW - Pregnancy, High-Risk

KW - Prenatal Diagnosis/methods

KW - Retrospective Studies

KW - Sex Chromosome Disorders/diagnosis

KW - Trisomy/diagnosis

KW - Trisomy 13 Syndrome

KW - Trisomy 18 Syndrome

KW - Young Adult

M3 - Journal article

C2 - 25370964

SN - 1603-9629

VL - 61

JO - Danish Medical Journal

JF - Danish Medical Journal

IS - 11

M1 - A4964

ER -