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[Single nucleotide polymorphism-array in genetic analysis of chorionic villi from early spontaneous miscarriages]
Yixi Sun1, Yuqin Luo1, Yeqing Qian1
1Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
Summary
Single nucleotide polymorphism (SNP)-array effectively detects various chromosome abnormalities in chorionic villi from early spontaneous abortions. This genetic analysis aids in understanding miscarriage causes, identifying aneuploidy, triploidy, and copy number variations.
Area of Science:
- Genetics
- Reproductive Medicine
- Genomic Analysis
Background:
- Early spontaneous abortion is a common complication of pregnancy.
- Accurate genetic diagnosis of abortus material is crucial for understanding etiology and recurrence risk.
- Traditional karyotyping has limitations in detecting smaller chromosomal aberrations.
Purpose of the Study:
- To evaluate the clinical utility of single nucleotide polymorphism (SNP)-array for detecting abnormal chromosome karyotypes in chorionic villi from early spontaneous miscarriages.
- To assess the spectrum and frequency of chromosomal abnormalities detectable by SNP-array in this cohort.
Main Methods:
- A total of 861 chorionic villus samples from unexplained early spontaneous abortions were analyzed.
- Genome-wide DNA copy number variants were detected using SNP-array technology.
- Results were compared with karyotyping and fluorescence in situ hybridization for specific cases.
Main Results:
- SNP-array successfully tested all samples, identifying abnormal chromosome constitutions in 51.10% (440/861).
- Aneuploidy was the most frequent abnormality (41.58%), followed by triploidy (2.44%).
- Numerous deletions and duplications, including small-size variants (<10 Mb), were detected, with some identified as de novo or inherited.
Conclusions:
- SNP-array offers a comprehensive genetic analysis for chorionic villi.
- It effectively detects a wide range of chromosome abnormalities in spontaneous miscarriages, improving diagnostic yield.
- This method aids in identifying the genetic causes of early pregnancy loss.