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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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[Chromosomal microarray analysis of 17 patients with unbalanced reciprocal translocations]
Chonglan Gao1, Han Kan, Xingyu Li
1Chengdu Women and Children's Central Hospital, The Affiliated Women and Children's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 611731, China. gaochonglan@126.
Summary
Chromosomal microarray analysis (CMA) identified 17 unbalanced translocations, often linked to parental balanced translocations. This aids genetic counseling and recurrence risk assessment for future pregnancies.
Area of Science:
- Genetics
- Reproductive Medicine
- Cytogenetics
Context:
- Retrospective analysis of 7,001 chromosomal microarray analysis (CMA) cases from January 2019 to January 2022.
- Focus on identifying unbalanced translocations and their parental origins.
- Utilized CMA, chromosomal karyotyping, and fluorescence in situ hybridization (FISH).
Purpose:
- To analyze CMA results for 17 patients with unbalanced translocations.
- To determine the parental origins of these unbalanced translocations.
- To provide data for improved genetic counseling and recurrence risk assessment.
Summary:
- 17 unbalanced translocations were detected via CMA.
- 14 cases involved terminal deletions and duplications; 3 involved gained segments on two non-homologous chromosomes.
- Parental origin analysis revealed parental chromosomal abnormalities in 12 of 15 cases, suggesting inheritance of balanced translocations.
Impact:
- CMA findings of specific chromosomal alterations suggest parental balanced translocations.
- Facilitates accurate genetic counseling for affected families.
- Enables better assessment of recurrence risks in subsequent pregnancies.
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