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Related Concept Videos

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...

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Related Experiment Video

Updated: Jun 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

M Valduga1, C Philippe, P Bach Segura

  • 1Laboratoire de Génétique Médicale, Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan, Vandoeuvre-les-Nancy cedex 1, France. m.valduga@chu-nancy.fr

Prenatal Diagnosis
|February 16, 2010
PubMed
Summary

Array comparative genomic hybridization (aCGH) identified submicroscopic chromosomal imbalances in 10% of fetuses with multiple congenital anomalies (MCA) and normal karyotypes. These findings highlight aCGH

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Area of Science:

  • Genetics
  • Genomics
  • Prenatal Diagnostics

Background:

  • Multiple congenital anomalies (MCA) often present diagnostic challenges.
  • Karyotyping is standard but may miss submicroscopic chromosomal imbalances.

Observation:

  • Oligonucleotide arrays were used for comparative genomic hybridization (aCGH) in 50 fetuses with MCA and normal karyotypes.
  • Fetuses had at least three malformations or a severe brain anomaly.

Findings:

  • Deleterious copy number variations (CNVs) were found in 10% (5/50) of fetuses.
  • Identified imbalances included deletions, duplications, and mosaicism, explaining some MCA phenotypes.

Implications:

  • aCGH is effective in identifying the molecular basis of MCA phenotypes.
  • Results can inform the design of targeted arrays for prenatal testing.