Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Prenatal diagnosis by array-CGH.

L Rickman1, H Fiegler, N P Carter

  • 1University of Cambridge Department of Medical Genetics, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, United Kingdom. lr2@sanger.ac.uk

European Journal of Medical Genetics
|September 24, 2005
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

Cytogenetic and genome research·2009
Same author

Multiple sub-microscopic genomic lesions are a universal feature of chronic myeloid leukaemia at diagnosis.

Leukemia·2008
Same author

Retrieval of a fractured abutment screw thread from an implant: a case report.

British dental journal·2008
Same author

Array painting reveals a high frequency of balanced translocations in breast cancer cell lines that break in cancer-relevant genes.

Oncogene·2007
Same author

The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care.

British journal of cancer·2007
Same author

Ultra-high resolution array painting facilitates breakpoint sequencing.

Journal of medical genetics·2006
Same journal

NEW INSIGHTS INTO THE COMPLEX GENETIC ARCHITECTURE OF AGE-RELATED HEARING LOSS.

European journal of medical genetics·2026
Same journal

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.

European journal of medical genetics·2026
Same journal

Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy.

European journal of medical genetics·2026
Same journal

A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum.

European journal of medical genetics·2026
Same journal

Development of a predictive matrix for pre-test genetic counselling in inherited retinal diseases based on data from 1001 patients enrolled in the IRD-PT registry.

European journal of medical genetics·2026
Same journal

Genotype before phenotype? Reversing the diagnostic odyssey in genomic medicine.

European journal of medical genetics·2026
See all related articles

Array-comparative genomic hybridization (array-CGH) offers a comprehensive, genome-wide prenatal screening method. This advanced technique addresses limitations of traditional karyotyping and rapid FISH/QF-PCR methods for detecting fetal chromosomal abnormalities.

Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Microscopic karyotype analysis is the established gold standard for prenatal diagnosis, identifying chromosomal copy number abnormalities and structural rearrangements.
  • Conventional methods require invasive fetal cell collection (amniocentesis, CVS) and lengthy cell culture.
  • Rapid methods like fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR) are limited in scope and not genome-wide.

Purpose of the Study:

  • To evaluate array-comparative genomic hybridization (array-CGH) as a comprehensive prenatal diagnostic tool.
  • To address the limitations of existing prenatal screening methods, including speed and genome-wide coverage.

Main Methods:

  • Array-comparative genomic hybridization (array-CGH) for genome-wide DNA copy number imbalance detection.

Related Experiment Videos

  • Comparison with conventional microscopic karyotype analysis and rapid screening techniques (FISH, QF-PCR).

    • Main Results:

    • Array-CGH provides a comprehensive, genome-wide screen for DNA copy number imbalances.
    • The technique is potentially faster and less labor-intensive than traditional karyotyping.
    • Array-CGH is amenable to automation, enhancing efficiency in prenatal diagnosis.

    Conclusions:

    • Array-comparative genomic hybridization (array-CGH) shows significant potential for prenatal diagnosis.
    • This method may overcome the limitations of conventional cytogenetic analysis and current rapid screening strategies.
    • Array-CGH offers a more comprehensive and efficient approach to detecting fetal chromosomal abnormalities.