Results 131 to 140 of about 5,809 (168)

Clinical Utility of MLPA and QF-PCR Techniques in the Genetic Testing of Miscarriages

Russian Journal of Genetics, 2019
Most common reasons for pregnancy loss are chromosomal anomalies of the fetus. They are found in as much as half of the miscarriages. The standard technique for assessment of chromosomal abnormalities in spontaneously aborted fetuses has been karyotyping, however, it needs cell culture which is the most vulnerable element of a diagnostic process.
K. Bernatowicz, J. Zimowski, I. Łaczmańska, K. Piotrowski, A. Kashyap, M. Bednarska-Makaruk, M. Sąsiadek, J. Gronwald   +7 more
openaire   +1 more source

Performance of QF-PCR in targeted prenatal aneuploidy diagnosis: Indian scenario

Gene, 2015
Among the rapid aneuploidy detection methods, QF-PCR has now become an alternative tool for prenatal aneuploidy diagnosis concomitant with karyotyping. This method has been validated in many of the western clinics but in India no study was conducted to assess its utility as standalone procedure.
Srinivasan, Muthuswamy, Poonam, Bhalla, Sarita, Agarwal, Shubha R, Phadke   +3 more
openaire   +2 more sources

Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis

Prenatal Diagnosis, 2005
QF-PCR can be used to rapidly diagnose primary trisomy in prenatal samples. Our objectives were to estimate the prevalence of primary trisomy mosaicism for chromosomes 13, 18 or 21 in a cohort of prenatal samples, and to compare and contrast the detection of this mosaicism using both QF-PCR and karyotype analysis.Data was collated from all prenatal ...
Celia, Donaghue, Kathy, Mann, Zoe, Docherty, Caroline Mackie, Ogilvie   +3 more
openaire   +2 more sources

Application of QF‐PCR for the prenatal assessment of discordant monozygotic twins for fetal sex

Prenatal Diagnosis, 2007
AbstractObjectiveTo establish the utility of quantitative fluorescent polymerase chain reaction (QF‐PCR) in order to determine the zygosity of multiple pregnancies, as well as to define the origin of the most frequent aneuploidies in amniotic fluid samples.MethodsWe describe the case of a monochorionic (MC) diamniotic (DA) pregnancy with phenotypically
F J, Fernández-Martínez, A, Galindo, A, Moreno-Izquierdo, M J, Gómez-Rodríguez, M, Moreno-García, A, Grañeras, E, Barreiro   +6 more
openaire   +2 more sources

Rapid aneuploidy screening (FISH or QF-PCR): the changing scene in prenatal diagnosis?

Expert Review of Molecular Diagnostics, 2004
The accuracy of new molecular diagnostics, fluoresence in situ hybridization or quantitative fluorescence-PCR (collectively known as rapid aneuploidy screening), in prenatal diagnosis has already been demonstrated in a number of large studies. The challenge now is how to apply them clinically in the most cost-effective manner.
Leung, WC, Lau, ET, Lao, TT, Tang, MHY
openaire   +4 more sources

Detection of fetal aneuploidies by QF-PCR in transcervical cell samples

American Journal of Obstetrics and Gynecology, 2007
OBJECTIVE: To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL).
CIONI, RICCARDO, BUSSANI, CECILIA, Voglino, G, DI TOMMASO, MARIAROSARIA FILOMENA LEA   +3 more
openaire   +2 more sources

Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative Fluorescence-PCR (QF-PCR)

Journal of Histochemistry & Cytochemistry, 2005
Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the abnormality rate was 5.9%
Caroline Mackie, Ogilvie, Celia, Donaghue, Susan P, Fox, Zoe, Docherty, Kathy, Mann   +4 more
openaire   +2 more sources

Development and targeted application of a rapid QF‐PCR test for sex chromosome imbalance

Prenatal Diagnosis, 2003
AbstractObjectivesA QF‐PCR test has been developed to diagnose sex chromosome imbalances in prenatal samples and has been applied to a diagnostic service.MethodsThe test uses a PCR multiplex with eight primer pairs: six X‐chromosome polymorphic markers, including two markers from Xp (a region not included in previously published sex chromosome ...
Celia, Donaghue, Angharad, Roberts, Kathy, Mann, Caroline Mackie, Ogilvie   +3 more
openaire   +2 more sources

An algorithm for the prenatal detection of chromosome anomalies by QF‐PCR and G‐banded analysis

Prenatal Diagnosis, 2008
AbstractObjectiveThe objective of this study was to examine in theory the clinical utility of a prenatal algorithm that uses rapid aneuploidy detection in all cases and G‐banded analysis for selected cases (RAD/G algorithm).MethodsOver a 4‐year period, amniotic fluid samples were prospectively assigned into RAD (limited analysis) or RAD/G (intensive ...
M D, Speevak, J, Dolling, D, Terespolsky, A, Blumenthal, S A, Farrell   +4 more
openaire   +2 more sources

Fetal and placental chromosomal mosaicism revealed by QF-PCR in severe IUGR pregnancies

Placenta, 2005
A number of genetic and environmental factors are taken into account as responsible for intrauterine growth restriction (IUGR); nevertheless, the relevance of genetic alteration in IUGR aetiology remains to be determined. The aim of this study was to investigate using a combined cytogenetic-molecular approach, improved by a new application of QF-PCR ...
F.R. Grati, M. Miozzo, B. Cassani, F. Rossella, P. Antonazzo, B. Gentilin, S.M. Sirchia, L. Mori, S. Rigano, G. Bulfamante, I. Cetin, G. Simoni   +11 more
openaire   +2 more sources