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Murine Fetal Echocardiography
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Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities.

Xiaoqin Chen1,2, Liubing Lan1,2, Heming Wu1

  • 1Department of Prenatal Diagnostic Center, Meizhou People's Hospital, Meizhou Academy of Medical Sciences, Meizhou, People's Republic of China.

International Journal of General Medicine
|August 20, 2024
PubMed
Summary
This summary is machine-generated.

Chromosomal microarray analysis (CMA) effectively detects chromosomal abnormalities in fetuses with ultrasound findings. Detection rates vary across different types of fetal ultrasound abnormalities, highlighting CMA's value in prenatal diagnosis.

Keywords:
abnormal ultrasound fetuschromosomal microarray analysiscopy number variationprenatal diagnosis

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Area of Science:

  • Prenatal Diagnosis
  • Genetics
  • Medical Imaging

Background:

  • Ultrasound abnormalities in fetuses are common indications for invasive prenatal diagnosis.
  • Chromosomal microarray analysis (CMA) is a powerful tool for detecting chromosomal abnormalities.

Purpose of the Study:

  • To evaluate the diagnostic value of CMA in fetuses with various ultrasound abnormalities.
  • To determine the detection rates of aneuploidy and copy number variations (CNVs) in different categories of fetal ultrasound findings.

Main Methods:

  • Retrospective analysis of 370 fetuses with ultrasound abnormalities undergoing invasive prenatal diagnosis.
  • Analysis of fetal specimens using CMA.
  • Categorization of abnormalities into structural, non-structural, and combined types.

Main Results:

  • The overall detection rate of aneuploidy and pathogenic/likely pathogenic CNVs in isolated structural abnormalities was 5.3%.
  • Fetuses with abnormal ultrasound soft markers showed a 9.9% detection rate of chromosomal abnormalities.
  • Combined structural and non-structural abnormalities had a detection rate of 13.3%.

Conclusions:

  • The incidence of chromosomal abnormalities varies significantly among different fetal ultrasound abnormalities.
  • CMA is valuable for prenatal diagnosis of fetuses with ultrasound abnormalities, with varying detection rates based on abnormality type.