Related Experiment Video

Updated: Feb 23, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.6K

Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and

Antoni Borrell1, Maribel Grande, Montse Pauta

  • 1BCNatal, Department of Maternal-Fetal Medicine, Institute of Gynecology, Obstetrics, and Neonatology, Hospital Clínic Barcelona, Barcelona, Catalonia, Spain.

Fetal Diagnosis and Therapy
|September 11, 2017
PubMed
Abstract

Insights

Chromosomal microarray analysis (CMA) offers a 4% incremental yield over karyotyping for detecting genetic abnormalities in isolated fetal growth restriction (FGR). This enhanced diagnostic capability is crucial for understanding FGR causes.

Area of Science:

  • Prenatal diagnostics
  • Genetics
  • Reproductive medicine

Background:

  • Fetal growth restriction (FGR) is a significant obstetric concern with various underlying causes.
  • Karyotyping has been the standard for detecting chromosomal abnormalities in FGR, but its resolution is limited.
  • Chromosomal microarray analysis (CMA) offers higher resolution for detecting copy number variants (CNVs).

Purpose of the Study:

  • To systematically review and meta-analyze the literature.
  • To estimate the incremental diagnostic yield of CMA compared to karyotyping in FGR.
  • To identify common pathogenic CNVs detected by CMA in FGR cases.

Main Methods:

  • Systematic literature review adhering to PRISMA criteria.
  • Searched PubMed, Ovid Medline, and Web of Science (Jan 2009-Nov 2016).
  • Included studies reporting pathogenic CNVs in fetuses with FGR; excluded case reports.
  • Pooled risk differences to calculate incremental yield.

Main Results:

  • Ten studies met inclusion criteria.
  • CMA showed a 4% incremental yield over karyotyping in nonmalformed FGR fetuses (95% CI 1-6%).
  • CMA demonstrated a 10% incremental yield in FGR associated with fetal malformations (95% CI 6-14%).
  • Common pathogenic CNVs included 22q11.2 duplication, Xp22.3 deletion, and 7q11.23 deletion.

Conclusions:

  • Genomic CMA provides a significant incremental yield for detecting pathogenic CNVs in isolated FGR with a normal karyotype.
  • CMA enhances the diagnostic accuracy for genetic causes of FGR, particularly when malformations are present.
  • The findings support the use of CMA as a valuable tool in the genetic evaluation of FGR.
Keywords:
Chromosomal microarray analysisCopy number variantsFetal growth restrictionIncremental yieldPrenatal diagnosis

More Related Videos

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.9K
FISH for Pre-implantation Genetic Diagnosis07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

37.9K

Related Concept Videos

Karyotyping01:17

Karyotyping

Overview
69.0K
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.3K