Related Experiment Video
Updated: Mar 17, 2026
09:16
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
20.7K
[Application of chromosomal microarray analysis for fetuses with talipes equinovarus]
1Institute of Perinatology and Birth Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.
Zhonghua Fu Chan Ke Za Zhi
|July 29, 2016
Summary
Chromosomal microarray analysis (CMA) enhances detection of copy number variations in fetuses with talipes equinovarus (TE). CMA is recommended for complex TE cases with normal karyotypes, improving diagnostic accuracy.
Area of Science:
- Prenatal diagnostics
- Medical genetics
Background:
- Talipes equinovarus (TE) is a common congenital foot deformity.
- Accurate prenatal diagnosis of TE is crucial for management and genetic counseling.
Purpose of the Study:
- To evaluate the utility of chromosomal microarray analysis (CMA) in detecting genetic abnormalities in fetuses with TE.
- To compare the detection rates of CMA in isolated versus complex TE cases.
Main Methods:
- Fifty-four fetuses with TE identified via ultrasound were included.
- Karyotyping was performed, followed by CMA for cases with normal karyotypes.
- Pregnancy outcomes were followed up to determine diagnostic accuracy and false positive rates.
Main Results:
- Chromosomal microarray analysis (CMA) detected copy number variations (CNVs) in 11% of fetuses with TE.
- The detection rate was higher in complex TE cases (27%) compared to isolated TE (5%).
- The false positive rate for TE diagnosis after birth was 22%.
Conclusions:
- Whole-genome CMA significantly increases the detection rate of clinically significant CNVs in fetuses with TE.
- CMA is recommended for fetuses with complex TE and normal karyotypes.
- For isolated TE, further ultrasonic evaluation is advised, with CMA considered for abnormal findings to reduce invasive procedures and false positives.
