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

Microarrays in prenatal diagnosis.

Beatrice Oneda1, Anita Rauch1

  • 1Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

Best Practice & Research. Clinical Obstetrics & Gynaecology
|February 21, 2017
PubMed
Summary

Chromosomal microarray (CMA) offers superior detection of fetal abnormalities compared to karyotyping, especially for ultrasound anomalies. Despite risks of unknown findings, CMA provides valuable prenatal diagnostic information, making it the preferred choice for expectant parents.

Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

20.5K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
20.5K

You might also read

Related Articles

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

Sort by
Same author

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

HGG advances·2026
Same author

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.

The Journal of clinical investigation·2026
Same author

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

American journal of human genetics·2026
Same author

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

American journal of human genetics·2026

Area of Science:

  • Prenatal Diagnosis
  • Genetics
  • Medical Technology

Background:

  • Conventional karyotyping is the standard for prenatal diagnosis, but has limitations in detecting smaller chromosomal imbalances.
  • Chromosomal microarray (CMA) has emerged as a powerful tool in prenatal genetic testing.
  • CMA is increasingly recommended for pregnancies with ultrasound abnormalities.

Purpose of the Study:

  • To review the published data on chromosomal microarray (CMA) in prenatal diagnosis.
  • To discuss the controversies and benefits of using CMA in the prenatal setting.
  • To evaluate the diagnostic and prognostic value of CMA for fetal abnormalities.

Main Methods:

  • Review of published data and evidence concerning CMA technology in prenatal diagnosis.
Keywords:
SNP arraychromosomal microarraycopy number variantmolecular karyotypingprenatal diagnosis

Related Experiment Videos

  • Comparison of CMA's detection rates against conventional karyotyping.
  • Analysis of risks and benefits associated with CMA findings.

    • Main Results:

    • CMA demonstrates a higher detection rate of pathogenic abnormalities than karyotyping, particularly in fetuses with ultrasound anomalies (e.g., congenital heart disease, increased nuchal translucency, oral cleft).
    • Potential risks include the detection of variants of unknown significance, late-onset disorders, and susceptibility gene variants.
    • Pregnant couples generally prefer comprehensive information regarding their unborn child's health.

    Conclusions:

    • CMA offers significant diagnostic and prognostic advantages in prenatal diagnosis.
    • Despite some limitations, CMA should be considered the test of choice for prenatal genetic assessment.
    • The benefits of enhanced detection and parental preference support the widespread adoption of CMA.