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Updated: Oct 31, 2025
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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Extended genetic testing in fetuses with sonographic skeletal system abnormalities
A Kucińska-Chahwan1, T Roszkowski1, B Nowakowska2
1Department of Gynecology Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland.
Summary
Extended genetic testing, including exome sequencing, significantly improves the diagnosis of skeletal system abnormalities in fetuses. This approach identifies genetic causes missed by standard chromosomal microarray analysis, aiding in comprehensive prenatal diagnosis.
Area of Science:
- Prenatal genetics
- Fetal medicine
- Medical diagnostics
Background:
- Prenatal diagnosis of skeletal system abnormalities often requires detailed genetic analysis.
- Standard genetic testing may not identify all underlying genetic causes of fetal skeletal defects.
Purpose of the Study:
- To investigate the genetic causes of fetal skeletal abnormalities detected via prenatal sonography.
- To establish an optimized diagnostic protocol using extended genetic testing for these cases.
Main Methods:
- Prospective observational cohort study of singleton pregnancies with fetal skeletal abnormalities.
- Utilized chromosomal microarray analysis (CMA) with polyploidy testing, followed by exome sequencing (ES) for non-diagnostic cases.
- Expert panel reviewed variants to identify pathogenic/likely pathogenic mutations.
Main Results:
- A total of 55 fetuses were analyzed; 43.6% had chromosomal abnormalities.
- Exome sequencing (ES) increased the overall diagnostic yield by 32.7%, identifying pathogenic variants in 18 additional fetuses.
- Overall, 76.4% of fetuses received an abnormal genetic test result, with variants found in 14 genes, including novel genes not typically associated with skeletal dysplasia.
Conclusions:
- Chromosomal abnormalities are common genetic diagnoses in fetuses with skeletal anomalies.
- Exome sequencing significantly enhances diagnostic yield beyond CMA and polyploidy testing.
- Extended genetic testing is crucial for identifying genetic anomalies causing skeletal defects that might otherwise be missed.
