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 -