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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

Anastasios Mitrakos1, Konstantina Kosma1, Periklis Makrythanasis1

  • 1Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, 11527 Athens, Greece.

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|August 26, 2023
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Summary
This summary is machine-generated.

High-resolution chromosomal microarray analysis (CMA) in prenatal diagnosis effectively detects smaller copy number variants (CNVs) linked to developmental issues. This advanced testing increases diagnostic yield with minimal variants of uncertain significance (VUS).

Keywords:
aCGHamniotic fluidarray comparative genomic hybridizationchorionic villiprenatal diagnosis

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Area of Science:

  • Genetics
  • Prenatal Diagnostics
  • Genomic Medicine

Background:

  • Chromosomal microarray analysis (CMA) is a primary diagnostic tool for developmental disabilities and congenital anomalies.
  • Current prenatal CMA guidelines use a size cut-off (200-400 Kb) to reduce variants of uncertain significance (VUS).
  • Limited data exist on using higher-resolution CMA platforms in prenatal settings.

Purpose of the Study:

  • To evaluate the feasibility and impact of high-resolution CMA in prenatal diagnosis.
  • To assess the diagnostic yield and detection of smaller copy number variants (CNVs) using a lower size cut-off.

Main Methods:

  • Applied CMA with a 20 Kb size cut-off to 250 prenatal samples.
  • Analyzed detected chromosomal abnormalities, classifying them as Pathogenic (P), Likely Pathogenic (LP), or VUS.
  • Followed up on cases with VUS and reported the smallest detected aberration.

Main Results:

  • 19.6% of samples revealed chromosomal abnormalities; 15.6% were P/LP and 4% were VUS.
  • Excluding familial aberrations, the diagnostic yield was 12%.
  • The smallest detected CNV was a 32 Kb duplication in the 16p11.2 region.

Conclusions:

  • High-resolution CMA reliably detects smaller CNVs associated with neurodevelopmental phenotypes in prenatal settings.
  • This method offers an increased diagnostic yield irrespective of the testing indication.
  • The incidence of VUS remains marginally increased, making high-resolution CMA a valuable prenatal diagnostic tool.