ArticleAmerican journal of human genetics1992
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH).
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 252 citations in OpenAlex.
- Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.American journal of obstetrics and gynecology · 2009Trial
- Simple and rapid detection of common fetal aneuploidies using peptide nucleic acid probe-based real-time polymerase chain reaction.Scientific reports · 2022Article
- Imaging and Quantification of mRNA Molecules at Single-Cell Resolution in the Human Fungal Pathogen Candida albicans.mSphere · 2021Article
- Chromosome Instability; Implications in Cancer Development, Progression, and Clinical Outcomes.Cancers · 2020Review
- Fluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research Applications.Frontiers in cell and developmental biology · 2016Review
- Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.Journal of clinical medicine · 2014Review
- Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects.Indian journal of human genetics · 2013Article
- Sex chromosome aneuploidies among men with systemic lupus erythematosus.Journal of autoimmunity · 2012Article
- Klinefelter's syndrome (47,XXY) among men with systemic lupus erythematosus.Acta paediatrica (Oslo, Norway : 1992) · 2011Article
- Rapid screening for chromosomal aneuploidies using array-MLPA.BMC medical genetics · 2011Article
- Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.European journal of pediatrics · 2010Article
- MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification.BMC bioinformatics · 2010Article
- Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Genomics insights · 2010Article
- A four-year retrospective study of amniocentesis: one centre experience.Hippokratia · 2008Article
- Article
- Prenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization.Journal of prenatal medicine · 2007Article
- Prenatal detection of unbalanced chromosomal rearrangements by array CGH.Journal of medical genetics · 2006Article
- Rapid prenatal diagnosis of Down Syndrome using quantitative fluorescent PCR in uncultured amniocytes.Journal of Korean medical science · 2004Article
- Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.Nucleic acids research · 2002Article
- Prenatal detection of aneuploidies using fluorescence in situ hybridization: a preliminary experience in an Indian set up.Journal of biosciences · 2002Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Herein we report the results of the first major prospective study directly comparing aneuploidy detection by fluorescence in situ hybridization of interphase nuclei with the results obtained by cytogenetic analysis. We constructed probes derived from specific subregions of human chromosomes 21, 18, 13, X, and Y that give a single copy-like signal when used in conjunction with suppression hybridization. A total of 526 independent amniotic fluid samples were analyzed in a blind fashion. All five probes were analyzed on 117 samples, while subsets of these five probes were used on the remaining samples (because of insufficient sample size), for a total of over 900 autosomal hybridization reactions and over 400 sex chromosome hybridization reactions. In this blind series, 21 of 21 abnormal samples were correctly identified. The remaining samples were correctly classified as disomic for these five chromosomes. 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.
Indexed as
Identifiers
1609805PMC1682861W1555322975What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.