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Updated: Apr 15, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV
Background:
Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV.
Material/Methods:
Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes.
Results:
Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region.
Conclusions:
Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families.
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