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Teratogenicity

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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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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 in Fetuses with Structural Malformations.

Fiona L Mackie^1,2, Keren J Carss³, Sarah C Hillman⁴

¹Centre of Women's and Children's Health & School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK. fionamackie@doctors.org.uk.

Journal of Clinical Medicine

|August 4, 2015

Summary

This summary is machine-generated.

Exome sequencing offers improved prenatal diagnosis for fetal structural anomalies compared to traditional methods. This advanced genetic testing aids in identifying gene mutations, refining prognoses, and informing parental decisions.

Keywords:

exome sequencing fetus prenatal prenatal diagnosis

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Area of Science:

Medical Genetics
Fetal Medicine
Genomic Diagnostics

Background:

Accurate prenatal diagnosis of fetal structural anomalies is crucial for prognosis and informed parental decision-making.
Current prenatal diagnostic methods include karyotyping and Chromosomal Microarray (CMA).
The field of prenatal genetic testing is rapidly evolving with new technologies.

Purpose of the Study:

To review current prenatal diagnostic tests, with a focus on novel technologies like exome sequencing.
To demonstrate the advantages of exome sequencing over conventional methods for fetuses with structural anomalies.
To discuss the implications of exome sequencing for prognostic profiling, mutation identification, and recurrence risk assessment.

Main Methods:

Review of current prenatal diagnostic techniques.
Analysis of a proof-of-concept study involving 30 parent-fetus trios with fetal structural anomalies.
Focus on exome sequencing as a key new technology.

Main Results:

Exome sequencing shows utility beyond conventional karyotyping and CMA in identifying pathological gene anomalies.
This technology can improve prognostic profiling and exclude anomalies.
It aids in distinguishing de novo from inherited mutations, crucial for recurrence risk estimation.

Conclusions:

Exome sequencing represents a significant advancement in prenatal genetic diagnosis for structural anomalies.
It enhances the ability to identify genetic causes, predict outcomes, and guide family planning.
Ethical considerations and the future trajectory of prenatal genetic diagnosis are discussed.