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Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study.

Antoni Borrell1, Maribel Grande, Eva Meler

  • 1BCNatal, Hospital Clínic de Barcelona, Barcelona, Spain.

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|November 2, 2016
PubMed
Summary
This summary is machine-generated.

Genomic microarray identifies submicroscopic anomalies in 6.8% of fetuses with early fetal growth restriction (FGR) and normal karyotypes. This testing offers a significant incremental yield, even in isolated FGR cases.

Keywords:
Copy number variantsFetal growth restrictionGenomic microarrayPrenatal diagnosis

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Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Reproductive medicine

Background:

  • Limited data exists on microdeletion/microduplication risks in fetal growth restriction (FGR) with normal karyotypes.
  • Conventional karyotyping may miss submicroscopic genetic variations.

Purpose of the Study:

  • To evaluate the added diagnostic value of genomic microarray compared to karyotyping in early FGR.
  • To determine the frequency of pathogenic copy number variants in fetuses with early FGR.

Main Methods:

  • Prospective study of 133 fetuses with early FGR (fetal weight <3rd percentile before 32 weeks).
  • Genomic microarray performed after normal quantitative fluorescent polymerase chain reaction (QF-PCR).
  • Incremental yield defined as detection of pathogenic copy number variants <10 Mb.

Main Results:

  • Genomic microarray showed a 6.8% incremental yield over karyotyping in early FGR.
  • Yield was 4.8% in isolated FGR, 10% with nonstructural anomalies, and 10.5% with structural anomalies.
  • Submicroscopic anomalies were found in 6.8% of fetuses after excluding common aneuploidies.

Conclusions:

  • Genomic microarray detects significant submicroscopic genetic anomalies in early FGR fetuses.
  • Consider genomic microarray for early FGR, even isolated cases, due to its diagnostic utility.
  • This approach enhances detection rates beyond conventional karyotyping.