Rapid Prenatal Diagnosis of Chromosomal Aneuploidies by Fluorescence in Situ Hybridization: Clinical Experience With 4500 Specimens

Ward, Benjamin D.; Gersen, Steven L.; Carelli, M P; McGuire, Nancy M.; Dackowski, William; Weinstein, Martha; Sandlin, Constance J.; Warren, Richard; Klinger, Katherine W.

doi:10.1097/00006254-199403000-00006

Cited by 99 publications

(158 citation statements)

References 26 publications

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“…Miniprep BAC DNA (100 ng) was labeled with Spectrum Orange-dUTP or Spectrum Green-dUTP (Vysis, Downers Grove, IL) according to manufacturer's protocol and used as probes for FISH analysis using standard protocols. 7 …”

Section: Fish Analysismentioning

confidence: 99%

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Sahoo

Cheung

Ward

et al. 2006

Genetics in Medicine

155

131

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Purpose: This study was designed to evaluate the feasibility of using a targeted array-CGH strategy for prenatal diagnosis of genomic imbalances in a clinical setting of current pregnancies. Methods: Women undergoing prenatal diagnosis were counseled and offered array-CGH (BCM V4.0) in addition to routine chromosome analysis.Array-CGH was performed with DNA directly from amniotic fluid cells with whole genome amplification, on chorionic villus samples with amplification as necessary, and on cultured cells without amplification. Results: Ninety-eight pregnancies (56 amniotic fluid and 42 CVS specimens) were studied with complete concordance between karyotype and array results, including 5 positive cases with chromosomal abnormalities. There was complete concordance of array results for direct and cultured cell analysis in 57 cases tested by both methods. In 12 cases, the array detected copy number variation requiring testing of parental samples for optimal interpretation. Array-CGH results were available in an average of 6 and 16 days for direct and cultured cells, respectively. Patient acceptance of array-CGH testing was 74%. Conclusion: This study demonstrates the feasibility of using array-CGH for prenatal diagnosis, including reliance on direct analysis without culturing cells. Use of array-CGH should increase the detection of abnormalities relative to the risk, and is an option for an enhanced level of screening for chromosomal abnormalities in high risk pregnancies. Genet Med 2006:8(11):719-727.

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Section: Fish Analysismentioning

confidence: 99%

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Sahoo

Cheung

Ward

et al. 2006

Genetics in Medicine

155

131

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“…The standard deviations were 4.5-5.8%, 4.7-5.3%, and 0.9 -1.7%, respectively. Regarding the recommendations of Ward et al (10), three standard deviations were added to the mean values and defined monosomy for centromeric probes 1, 6, 7, and 8 at 26, 27, 30, and 25%, respectively. Trisomy was defined at values of 5, 6, 7, and 6% (data not shown).…”

Section: Control Groupmentioning

confidence: 99%

Detection of Chromosomal Aberrations in Well-Differentiated Hepatocellular Carcinoma by Bright-Field In Situ Hybridization

et al. 2002

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Differentiation between well-differentiated hepatocellular carcinoma (HCC) and nonmalignant lesions with increased cellular proliferation may be difficult in needle biopsies. Based on recurrent chromosome aberrations known for HCC, we developed a nonfluorescent in situ hybridization technique that allows combination with morphological analysis in bright-field microscopy. Fourteen biopsies of HCC and 31 samples of regenerative nodules (n ‫؍‬ 10), chronic hepatitis (n ‫؍‬ 10), fibrosis or cirrhosis of unknown origin (n ‫؍‬ 5), focal nodular hyperplasia (n ‫؍‬ 2), primary biliary cirrhosis (n ‫؍‬ 2), steatosis (n ‫؍‬ 1), and adenomatous hyperplasia (n ‫؍‬ 1) were analyzed with probes specific for the centromeric regions of chromosomes 1, 6, 7, and 8. After microwave pretreatment and in situ hybridization, signals were detected using a tyraminebased system and AEC as substrate. Evaluation of signals was done by conventional bright-field microscopy. Using this approach, aberrant counts were seen for at least one chromosome in 12/14 cases of HCC. In contrast, none of the nonmalignant lesions revealed aberrant counts for any of the chromosomes analyzed. In conclusion, this new combination of in situ hybridization and tyramine amplification allows fast and reliable evaluation of chromosome aberrations in a histomorphological context similar to paraffin immunohistochemistry. Registration of imbalances contributes to a reliable differentiation between malignant and nonmalignant lesions of the liver. The fast and reliable differentiation between malignant and nonmalignant tumorlike lesions of the liver is of the utmost importance for the further treatment and surgical procedure of the patients. However, even for the experienced pathologist, in some cases, determining the correct diagnosis may be extremely difficult and uncertain, particularly if only small biopsies are available as the main source for histological examination. In particular, differentiation between well-differentiated hepatocellular carcinoma (HCC) and benign alterations may be impossible based on morphologic criteria alone (1). Detection of chromosomal aberrations within questionable tumors could contribute toward solving this problem. Because of the time and effort required for conventional cytogenetics, this technique is usually not appropriate. The recently developed comparative genomic hybridization (CGH) has revealed promising results (2,4,11,13,14), but it is also of limited value because of the duration and amount of tissue required. By contrast, fluorescence in situ hybridization (FISH) yields results that are evaluable by simple counting of fluorescence signals in conventional biopsies (12). A major limitation of this approach is, however, that most pathologists are not familiar with the morphology of the tumor in histological sections counterstained with fluorescent dyes. Furthermore, many histomorphological details remain undetected in the dark field required for evaluation. In addition, epifluorescence microscopy is based on expensive technica...

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“…These embryos were not selected according to any specialized criteria for quality, while microinjected and transgenic embryos were of high quality because they were selected keeping in mind all the criteria to perform further manipulation in this investigation of microinjection. However, the low level of chromosomally abnormal cells is not thought to be detrimental, because these cells can be eliminated in early development or diverted to extraembryonic structures (Ward et al, 1993). Also, extensive and efficient reprogramming steps occur soon after fertilization and also probably during early embryogenesis to reverse completely the differentiated state of the gamete and to achieve totipotency or later on pluripotency of embryonic cells (Fulka et al, 2008).…”

Section: Resultsmentioning

confidence: 99%

Hypodiploidy as a prominent attributor to chromosomal aneuploidy in transgenic rabbit embryos

Roychoudhury¹,

Bulla²,

Čurlej³

et al. 2008

CZECH J ANIM SCI

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Transgenic animals play a vital role in basic research, agriculture and pharmaceutical industries. Rabbits have the advantage of other large laboratory species in that they have a short gestation period and yield large numbers of embryos. Production of transgenic rabbits has been directed towards using the rabbit as a model for large domestic animals or as a basic biological model for studying the mammalian gene regulation. In connection with their use, developmental and health disorders have also been reported in genetically modified animals. Random integration of a transgene can disrupt the function or regulation of an endogenous gene, resulting in insertion mutations or chromosomal aneuploidy. Chromosomal abnormalities affect the developmental potential of early embryos and serve as potential predictors of developmental outcome. This study was aimed at analyzing the cytogenetic profile of transgenic rabbit embryos, which is necessary for selecting optimal lines for dissemination in order to eliminate animals with chromosomal aberrations. Conventional Giemsa stained c-metaphase spreads obtained from blastomeres of intact as well as microinjected transgenic (EGFP and hFVIII) and non-transgenic embryos revealed a significantly higher (P < 0.01) rate of aneuploid cells in transgenic rabbits compared to non-transgenic animals. However, microinjection did not seem to influence the rate of aneuploidy, as the incidence of aneuploidy in non-transgenic blastomeres was significantly lower (P < 0.01) in comparison with intact ones (14.3 vs. 73.33%). The findings suggest hypodiploidy as the prominent attributor to the occurrence of aneuploidy. This is the first report of 100% chromosomal aneuploidy in the embryos of both EGFP and hFVIII transgenic rabbits.

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Rapid Prenatal Diagnosis of Chromosomal Aneuploidies by Fluorescence in Situ Hybridization: Clinical Experience With 4500 Specimens

Abstract: SummaryDetection of chromosome aneuploidies in uncultured amniocytes is possible using fluorescence in situ hybridization (FISH

Cited by 99 publications

References 26 publications

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

Detection of Chromosomal Aberrations in Well-Differentiated Hepatocellular Carcinoma by Bright-Field In Situ Hybridization

Hypodiploidy as a prominent attributor to chromosomal aneuploidy in transgenic rabbit embryos

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