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Related Concept Videos

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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: Aug 29, 2025

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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Exome sequencing for structurally normal fetuses-yields and ethical issues.

Hagit Daum1,2, Tamar Harel3,4, Talya Millo3

  • 1Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel. dhagit100@gmail.com.

European Journal of Human Genetics : EJHG
|September 7, 2022
PubMed
Summary
This summary is machine-generated.

Exome sequencing (ES) identified significant genetic findings in 0.8% of structurally normal fetuses, suggesting it offers greater diagnostic yield than chromosomal microarray analysis (CMA) alone. This highlights the importance of comprehensive genetic testing for prenatal diagnosis.

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Genomic Medicine

Background:

  • Chromosomal microarray analysis (CMA) has a known diagnostic yield in structurally normal fetuses, ranging from 0.4% to 1.4%.
  • The incremental diagnostic value of exome sequencing (ES) in this specific population remains to be fully elucidated.
  • Advances in next-generation sequencing technologies necessitate re-evaluation of diagnostic strategies in prenatal settings.

Purpose of the Study:

  • To determine the additional diagnostic yield of exome sequencing (ES) in fetuses with normal ultrasound findings.
  • To compare the efficacy of ES against established methods like CMA for detecting pathogenic genetic variants.
  • To assess the implications of ES findings for genetic counseling and prenatal care.

Main Methods:

  • Retrospective analysis of 1,526 fetal exome sequencing cases performed between February 2017 and April 2022.
  • Focus on a subset of 482 fetuses with structurally normal ultrasound examinations.
  • Reporting of pathogenic and likely pathogenic (P/LP) variants according to ACMG classification, including childhood-relevant secondary findings.

Main Results:

  • Four out of 482 (0.8%) structurally normal fetuses had P/LP variants associated with moderate to severe conditions (Wilson disease, Enhanced S-cone syndrome, Legius syndrome, Muenke syndrome).
  • Two additional fetuses had clinically relevant secondary findings.
  • The overall detection rate of significant findings via ES in this cohort underscores its utility beyond CMA.

Conclusions:

  • Relying solely on CMA for structurally normal fetuses may lead to missed diagnoses and false reassurance.
  • Prenatal exome sequencing offers a higher diagnostic yield, identifying significant genetic conditions.
  • Comprehensive genetic testing, including ES, requires careful management, restrictive analysis protocols, and robust pre- and post-test genetic counseling.