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Updated: May 1, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection
Li-Min Cui1, Hua-Ying Hu2, Xiao-Mei Zhai1
1Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, Hebei, China.
Background:
Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Materials And Methods:
In this study, we recruited 26 cases of SD and analyzed them with a designed sequential genetic detection. Chromosome karyotyping, microarray analysis (CMA), and whole exome sequencing (WES) techniques are performed as needed. Sanger sequencing and fluorescent quantitative PCR (QF-PCR) were used as validation methods.
Results:
A total of 16 cases (61.5%, 16/26) received positive results at various levels of testing, including one trisomy 18, four copy number variations (CNVs), and 11 sequence variations. Additionally, four novel SD-related sequence mutations were detected in this study.
Conclusion:
Our findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD.
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