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[Chromosomal microarray comparative genome hybridization (arrayCGH) in prenatal settings. Proposal for Hungarian

Zsolt Tidrenczel1, Erika P Tardy2, Henriett Pikó3

  • 1Szülészet-Nőgyógyászati Osztály, Genetikai Centrum, Magyar Honvédség Egészségügyi Központ Budapest, Podmaniczky u. 111., 1062.

Orvosi Hetilap
|March 26, 2019
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Summary

Array comparative genome hybridization (arrayCGH) enhances fetal genetic diagnosis by detecting sub-microscopic chromosomal abnormalities. This molecular karyotyping method offers significant additional genetic information, particularly in fetuses with detected malformations.

Keywords:
arrayCGHcopy number variationskópiaszám-variációkpraenatalis diagnosztikaprenatal diagnosticstructural malformationstrukturális ultrahangeltérés

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Area of Science:

  • Prenatal diagnostics
  • Cytogenetics
  • Molecular karyotyping

Background:

  • Conventional G-banding karyotyping is the standard for fetal cytogenetic diagnosis but has limited resolution.
  • Microscopic resolution limits standard karyotyping, hindering the detection of sub-microscopic chromosomal changes.
  • Array-based methods offer whole-genome evaluation of copy number variations.

Purpose of the Study:

  • To review the literature on chromosomal microarray (CMA) and array comparative genome hybridization (arrayCGH).
  • To evaluate the clinical utility of arrayCGH in prenatal diagnosis.
  • To propose the application of CMA in Hungarian prenatal genetic practice.

Main Methods:

  • Review of international literature from the past decade concerning chromosomal microarray and arrayCGH.
  • Analysis of diagnostic yield compared to conventional karyotyping.
  • Focus on arrayCGH's ability to detect sub-microscopic copy number changes.

Main Results:

  • ArrayCGH provides 1-2% additional genetic information in fetuses without ultrasound anomalies compared to karyotyping alone.
  • ArrayCGH provides 5-7% additional genetic information in fetuses with detected ultrasound malformations.
  • ArrayCGH significantly improves prenatal diagnosis of genetic abnormalities, especially in fetuses with structural sonographic findings.

Conclusions:

  • ArrayCGH is a valuable tool for prenatal diagnosis, surpassing conventional karyotyping in detecting sub-microscopic chromosomal abnormalities.
  • The method is particularly beneficial for fetuses with ultrasonographically detected malformations.
  • Implementation of chromosomal microarray is proposed for Hungarian prenatal genetic practice.