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Clinical implementation of NIPT - technical and biological challenges.

P Brady1, N Brison1, K Van Den Bogaert1

  • 1Centre for Human Genetics, KU Leuven, University Hospital Leuven, Leuven, Belgium.

Clinical Genetics
|April 14, 2015
PubMed
Summary

Genome-wide non-invasive prenatal testing (NIPT) offers broader detection of fetal and maternal aneuploidies beyond common trisomies. This review explores the technical and clinical aspects of advanced cell-free DNA profiling.

Keywords:
cell-free DNA, (cfDNA)cell-free fetal DNA, (cffDNA)copy number variation, (CNV)genome sequencingmosaicismnon-invasive prenatal testing, (NIPT)prenatal diagnosis

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Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Non-invasive prenatal testing (NIPT) is expanding clinically for fetal aneuploidy.
  • Current NIPT typically focuses on trisomies 21, 18, and 13.
  • Genome-wide analysis presents expanded diagnostic potential.

Purpose of the Study:

  • To review the advantages of genome-wide NIPT.
  • To discuss the challenges of genome-wide NIPT.
  • To explore cell-free fetal DNA (cfDNA) profiling.

Main Methods:

  • Review of current literature on genome-wide cfDNA analysis.
  • Discussion of technical aspects of cfDNA sequencing.
  • Analysis of clinical utility and limitations.

Main Results:

  • Genome-wide NIPT can identify a wider spectrum of fetal aneuploidies.
  • Maternal aneuploidies can also be detected.
  • Technical and clinical hurdles remain for widespread adoption.

Conclusions:

  • Genome-wide cfDNA analysis offers significant potential for prenatal diagnostics.
  • Further research is needed to optimize technical and clinical implementation.
  • The scope of NIPT is evolving with advanced genomic techniques.