Copy number variation sequencing detection technology for identifying fetuses with abnormal soft indicators: a...

Area of Science:

• Genetics
• Prenatal Diagnostics
• Medical Technology

Background:

• Abnormal ultrasound markers in fetuses can indicate potential birth defects.
• Traditional karyotype analysis has limitations in detecting certain chromosomal abnormalities.
• There is a need for more sensitive methods in prenatal diagnosis.

Purpose of the Study:

• To evaluate the effectiveness of copy number variation sequencing (CNV-seq) in prenatal diagnosis.
• To assess the value of CNV-seq for identifying fetuses with abnormal ultrasound markers.
• To determine if CNV-seq can reduce the incidence of fetal birth defects.

Main Methods:

• A study involving 295 pregnant women with abnormal ultrasound indicators was conducted between June 2021 and December 2022.
• Participants were categorized by the number of abnormalities and maternal age.
• Both karyotype analysis and CNV-seq were performed, with statistical analysis of CNV-seq detection rates.

Main Results:

• CNV-seq detected abnormal chromosomes in 14.58% of cases, significantly higher than karyotype analysis (5.76%).
• CNV-seq identified all aneuploidies found by karyotyping and an additional 5 abnormalities.
• The detection rate for CNV-seq was higher in fetuses with multiple soft markers (29.41%) compared to individual markers.

Conclusions:

• CNV-seq technology is a valuable tool for identifying fetuses with abnormal soft markers.
• The findings support the future use of CNV-seq in perinatal diagnosis.
• CNV-seq can aid clinical genetic counseling for expectant parents.