Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence <i>in situ</i> hybridization: a one‐year clinical experience with high‐risk and urgent fetal and postnatal samples

Bryndorf, Thue; Lundsteen, Claes; Lamb, Allen N.; Christensen, B.; Philip, John

doi:10.1034/j.1600-0412.2000.079001008.x

Cited by 7 publications

(5 citation statements)

References 4 publications

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“…Fetal chromosomal abnormalities are among the most common types of birth defects seen in clinical practice, with 95% of chromosomal abnormalities being aneuploidies. Common aneuploidies include trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities . Some chromosome abnormalities are due to microdeletions or duplications.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Yin

Tang

et al. 2019

Clinical Laboratory Analysis

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ObjectiveNoninvasive prenatal testing (NIPT) is widely used in clinical detection of fetal autosomal duplications or deletions. The aim of this study was to investigate the clinical application of NIPT for detection of chromosomal microdeletions.MethodsMicrodeletions of about 5 Mb in the long arm of chromosome 15 (q11.2‐q12) were detected by NIPT and were confirmed by karyotype analysis and copy number variation (CNV) analysis based on high‐throughput sequencing technology.ResultsThe CNV results of prenatal diagnosis showed that there were approximately 4.96 Mb of microdeletions in 15q11.2‐q13.1, which was consistent with the NIPT results. The karyotype analysis showed no abnormalities.ConclusionIn this study, the microdeletion fragment of fetal chromosome 15 was successfully detected and diagnosed using NIPT. This suggests that NIPT is an efficient method to gain genetic information about chromosomal abnormalities.

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Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Yin

Tang

et al. 2019

Clinical Laboratory Analysis

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“…[9,46,47]. Since gain or loss of a single gonosomes may not fully impair embryonic or fetal survival, prenatal screening procedures have kept a close watch on the sex chromosome make-up of cell specimens [48–50]. …”

Section: Resultsmentioning

confidence: 99%

Chromosome-Specific DNA Repeats: Rapid Identification in Silico and Validation Using Fluorescence in Situ Hybridization

Hsu

Zeng

Lemke

et al. 2012

IJMS

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Chromosome enumeration in interphase and metaphase cells using fluorescence in situ hybridization (FISH) is an established procedure for the rapid and accurate cytogenetic analysis of cell nuclei and polar bodies, the unambiguous gender determination, as well as the definition of tumor-specific signatures. Present bottlenecks in the procedure are a limited number of commercial, non-isotopically labeled probes that can be combined in multiplex FISH assays and the relatively high price and effort to develop additional probes. We describe a streamlined approach for rapid probe definition, synthesis and validation, which is based on the analysis of publicly available DNA sequence information, also known as “database mining”. Examples of probe preparation for the human gonosomes and chromosome 16 as a selected autosome outline the probe selection strategy, define a timeline for expedited probe production and compare this novel selection strategy to more conventional probe cloning protocols.

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“…Although FISH analysis has been shown to be accurate for the chromosomes in the panel, it should be considered a screening test. False-positive and false-negative results have been reported with FISH (6)(7)(8), and an abnormal FISH result should not be considered diagnostic. Therefore, clinical decision making based on information from FISH should include at least one of the following additional results: confirmatory traditional metaphase chromosome analysis or chromosomal microarray, or consistent clinical information (such as abnormal ultrasonographic findings or a positive screening test result for Down syndrome or trisomy 18) (9).…”

Section: Invasive Prenatal Diagnostic Testing Techniquesmentioning

confidence: 99%

Practice Bulletin No. 162

2016

Obstetrics &Amp; Gynecology

251

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Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Although it is necessary to perform amniocentesis or chorionic villus sampling (CVS) to definitively diagnose most genetic disorders, in some circumstances, fetal imaging with ultrasonography, echocardiography, or magnetic resonance imaging may be diagnostic of a particular structural fetal abnormality that is suggestive of an underlying genetic condition.The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and any testing should be focused on the individual patient's risks, reproductive goals, and preferences. It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing. It also is important that patients realize that there is a broad range of clinical presentations, or phenotypes, for many genetic disorders and that results of genetic testing cannot predict all outcomes. Prenatal genetic testing has many benefits, including reassuring patients when results are normal, identifying disorders for which prenatal treatment may provide benefit, optimizing neonatal outcomes by ensuring the appropriate location for delivery and the necessary personnel to care for affected infants, and allowing the opportunity for pregnancy termination.The purpose of this Practice Bulletin is to review the current status of prenatal genetic diagnostic testing and the evidence supporting its use. For information regarding screening for fetal aneuploidy, refer to Practice Bulletin No. 163, Screening for Fetal Aneuploidy.

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Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization: a one‐year clinical experience with high‐risk and urgent fetal and postnatal samples

Abstract: FISH analysis is a clinically useful adjunctive tool to conventional pre- and postnatal cytogenetic analysis. The assay rapidly detects the majority of clinically significant chromosome abnormalities, thus facilitating difficult pre- and postnatal clinical decisions.

Cited by 7 publications

References 4 publications

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

Chromosome-Specific DNA Repeats: Rapid Identification in Silico and Validation Using Fluorescence in Situ Hybridization

Practice Bulletin No. 162

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