[Comprehensive genetic analysis in first or second trimester pregnancy loss using chromosomal microarray with single...

Area of Science:

• Reproductive genetics
• Genomic medicine
• Obstetrics and Gynecology

Background:

• Early pregnancy loss is a significant concern affecting reproductive health.
• Identifying genetic causes is crucial for understanding miscarriage and guiding future reproductive decisions.

Purpose of the Study:

• To investigate the genetic underpinnings of early pregnancy loss.
• To evaluate the efficacy of chromosomal microarray analysis (CMA) with single nucleotide polymorphism (SNP) probes in detecting genetic abnormalities in miscarriage samples.

Main Methods:

• A retrospective review of 961 samples from spontaneous abortions before 20 weeks gestation.
• Utilized chromosomal microarray analysis (CMA) with single nucleotide polymorphism (SNP) probes for comprehensive genetic assessment.

Main Results:

• A high rate of chromosomal abnormalities (54.44%) was observed in miscarriage samples.
• Detected various abnormalities including single, multiple, and complex chromosomal issues, copy number variants (CNVs), regions of homozygosity (ROH), mosaicism, and chimerism.
• Pathogenic or likely pathogenic CNVs were identified in 85.36% of analyzed cases, with ROH suggesting potential isodisomy.

Conclusions:

• Chromosome abnormalities are a primary genetic factor contributing to early pregnancy loss.
• CMA with SNP probes enhances the detection of genetic abnormalities, offering valuable insights into reproductive fertility risks for affected individuals.