Journal ArticleDOI
Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex
Barbara Pertl,Susanne Kopp a,Peter M. Kroisel,M Häusler,J Sherlock,Raimund Winter,Matteo Adinolfi +6 more
TLDR
Quantitative fluorescence multiplex polymerase chain reaction is a reliable and rapid method that allows prenatal diagnosis of the major numeric chromosomal abnormalities to be performed within 24 hours.About:
This article is published in American Journal of Obstetrics and Gynecology.The article was published on 1997-10-01. It has received 66 citations till now. The article focuses on the topics: Multiplex polymerase chain reaction & Aneuploidy.read more
Citations
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Journal ArticleDOI
Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis
Kathy Mann,Susan P Fox,Stephen J. Abbs,Shu Ching Yau,Paul N. Scriven,Zoe Docherty,Caroline Mackie Ogilvie +6 more
TL;DR: In this article, the authors report on the development and implementation of this technique as the first such routine service within a diagnostic department of the UK National Health Service (NHS), which has led to the rapid diagnosis of abnormalities and early reassurance for women with normal results.
Journal ArticleDOI
Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.
TL;DR: It is demonstrated that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours.
Journal ArticleDOI
Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.
TL;DR: There is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes.
Journal ArticleDOI
Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies
Vincenzo Cirigliano,Maijo Ejarque,M. Paz Cañadas,Elisabeth Lloveras,Alberto Plaja,Maria del Mar Perez,Carme Fuster,Josep Egozcue +7 more
TL;DR: The assay proved to be so efficient and reliable that in most aneuploidy cases, in which ultrasound findings were in agreement with the molecular result, therapeutical interventions were possible without waiting for the result of cytogenetic analysis.
Journal ArticleDOI
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience
Vincenzo Cirigliano,Gianfranco Voglino,Elena Ordoñez,Antonella Marongiu,M. Paz Cañadas,Maijo Ejarque,Laura Rueda,Elisabet Lloveras,Carme Fuster,Matteo Adinolfi +9 more
TL;DR: Despite being deliberately targeted to common chromosome aneuploidies, the rapid quantitative fluorescent polymerase chain reaction (QF‐PCR) tests can detect the majority of chromosome abnormalities in prenatal diagnosis.
References
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Book
Molecular Cloning: A Laboratory Manual
TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
Journal Article
DNA typing and genetic mapping with trimeric and tetrameric tandem repeats.
TL;DR: A method enabling rapid localization of STRs and determination of their flanking DNA sequences was developed, thus simplifying the identification of polymorphic STR loci.
Journal Article
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
Katherine W. Klinger,Gregory M. Landes,Douglas C. Shook,Harvey R,Lopez L,Locke P,Terry J. Lerner,Osathanondh R,Leverone B,Houseal T +9 more
TL;DR: The combination of chromosome-specific probe sets composed primarily of cosmid contigs and optimized hybridization/detection allowed accurate chromosome enumeration in uncultured human amniotic fluid cells, consistent with the results obtained by traditional cytogenetic analysis.
Journal ArticleDOI
Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
TL;DR: A rapid, inexpensive method to detect trisomy using polymorphic small tandem repeat (STR) markers and the polymerase chain reaction (PCR) to amplify amniocyte DNA and expects as few as three STR markers per chromosome should be over 99% informative.
Journal ArticleDOI
Sex identification by polymerase chain reaction using X‐Y homologous primer
TL;DR: A method of sex identification using the polymerase chain reaction technique is described, using a pair of nucleotide primers from an X-Y homologous region that can be amplified simultaneously and result in fragments of different lengths.