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Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype.

Xiaoqing Wu1, Ying Li1, Linjuan Su1

  • 1Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, 350001, Fujian, China.

Molecular Diagnosis & Therapy
|July 12, 2020
PubMed
Summary

Chromosomal microarray analysis (CMA) detects significant genetic anomalies in fetuses with aortic arch abnormalities (AAA), particularly when other malformations are present. However, its utility is limited in isolated AAA cases, except for isolated right aortic arch.

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Area of Science:

  • Prenatal diagnosis
  • Medical genetics
  • Congenital abnormalities

Background:

  • Aortic arch abnormalities (AAA) are congenital defects impacting aorta development.
  • Outcomes of AAA are influenced by associated conditions and genetic findings.

Purpose of the Study:

  • To assess the diagnostic yield of chromosomal microarray analysis (CMA) in fetuses with various aortic arch abnormalities (AAA) and normal karyotypes.
  • To determine the incremental value of CMA across different patterns of AAA.

Main Methods:

  • Retrospective analysis of 158 pregnancies undergoing prenatal CMA for fetal AAA.
  • Classification of AAA cases into isolated (Group A), with soft markers (Group B), and with other malformations (Group C).
  • Exclusion of cases with detectable karyotype aberrations.

Main Results:

  • Submicroscopic anomalies were found in 12.7% of cases with normal karyotype.
  • Clinically significant variants were identified in 10.1% of cases.
  • The diagnostic yield of CMA was significantly higher in Group C (24.1%) compared to Groups A (1.8%) and B (2.3%).
  • 22q11.2 microdeletion was a common finding (25% of significant variants).

Conclusions:

  • CMA identifies clinically significant submicroscopic variants in fetuses with AAA, especially those with additional malformations.
  • Evidence is insufficient to recommend CMA for isolated AAA, with the exception of isolated right aortic arch (RAA).