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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Noninvasive prenatal diagnosis: current practice and future perspectives.

Sinuhe Hahn1, Lyn S Chitty

  • 1University Women's Hospital, Department of Biomedicine, Basel, Switzerland.

Current Opinion in Obstetrics & Gynecology
|April 5, 2008
PubMed
Summary

Noninvasive prenatal testing using fetal DNA in maternal blood is advancing rapidly. Future applications may include early detection of genetic disorders and pregnancy complications.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Obstetrics

Background:

  • Maternal blood contains fetal genetic material (cells and cell-free nucleic acids).
  • Noninvasive prenatal testing (NIPT) offers a safer alternative to invasive procedures.

Purpose of the Study:

  • Review recent advancements in noninvasive fetal genetic analysis.
  • Outline future clinical applications of these technologies.

Main Methods:

  • Analysis of cell-free fetal DNA (cfDNA) for fetal sex and Rhesus D status.
  • Advanced techniques like peptide-nucleic acid clamps, mass spectrometry, and size-fractionation to detect fetal mutations.
  • Exploration of cell-free fetal mRNA for genetic screening.

Main Results:

  • Noninvasive fetal sex and Rhesus D determination are clinically available in Europe.
  • Detecting fetal point mutations is challenging due to high maternal cfDNA levels.
  • Cell-free fetal mRNA analysis shows potential for Down's syndrome detection and gene expression profiling.

Conclusions:

  • Noninvasive diagnosis of Mendelian disorders (e.g., thalassemia, cystic fibrosis) and Down's syndrome is nearing clinical reality.
  • Noninvasive fetal profiling may enable early detection of preeclampsia and preterm labor risks.