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Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
FISH - Fluorescent In-situ Hybridization02:07

FISH - Fluorescent In-situ Hybridization

Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...

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Related Experiment Video

Updated: Jun 22, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Array comparative genomic hybridization in prenatal diagnosis: another experience.

F Vialard1, D Molina Gomes, B Leroy

  • 1Federation of Genetics, CHI Poissy Saint Germain, Poissy, France. fvialard@hotmail.com

Fetal Diagnosis and Therapy
|June 13, 2009
PubMed
Summary

Array comparative genomic hybridization (CGH) effectively diagnosed chromosomal imbalances in 15.4% of fetuses with multiple congenital abnormalities (MCAs). This technique is valuable for identifying subtle genetic changes in prenatal diagnostics.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Genomics

Background:

  • Etiologic diagnosis of multiple congenital abnormalities (MCAs) remains challenging.
  • Conventional cytogenetics detects large chromosomal abnormalities, but misses subtle micro-rearrangements.
  • Multi-FISH analysis is limited by material availability in prenatal testing.

Purpose of the Study:

  • To evaluate the utility of array CGH for detecting chromosomal imbalances in fetuses with MCAs.
  • To screen for microdeletion syndromes and subtelomeric rearrangements.
  • To characterize de novo and cryptic chromosome abnormalities.

Main Methods:

  • Comparative genomic hybridization (CGH) array (Genosensor Array 300) was used.
  • Prospective study of 39 fetuses with MCAs post-termination of pregnancy.
  • Included fetuses with normal karyotypes and uncharacterized unbalanced karyotypes.

Main Results:

  • Array CGH characterized two de novo unbalanced karyotypes.
  • Four additional abnormalities were diagnosed: cryptic translocation, 22q11.2 deletion, 1p36 deletion, and 6p12.1-21.2 duplication.
  • Overall, chromosomal imbalances were detected in 6 of 39 (15.4%) fetuses.

Conclusions:

  • Routine array CGH is valuable for diagnosing MCAs and uncharacterized chromosome rearrangements.
  • The technique identified significant chromosomal imbalances in 15.4% of cases.
  • Extension to all prenatal diagnoses may be warranted for copy number variation detection.