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Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
- Source :
- Prenatal Diagnosis; Aug2018, Vol. 38 Issue 9, p692-699, 8p
- Publication Year :
- 2018
-
Abstract
- <bold>Objective: </bold>This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype.<bold>Methods: </bold>Proband-only targeted skeletal gene panel sequencing was performed on 12 families who had fetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The fetuses all had normal standard genetic testing yield (karyotyping and microarray).<bold>Results: </bold>In 10 of 12 fetuses, panel sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: FGFR3, COL1A2, IHH, COL2A1, and DYNC2H1. Two cases revealed novel variants in COL2A1 and DYNC2H1.<bold>Conclusions: </bold>Our study suggests that targeted skeletal gene panel sequencing is highly sensitive for prenatal diagnosis of fetuses presenting with unexpected ultrasound findings suggestive of a skeletal dysplasia. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 01973851
- Volume :
- 38
- Issue :
- 9
- Database :
- Complementary Index
- Journal :
- Prenatal Diagnosis
- Publication Type :
- Academic Journal
- Accession number :
- 131134472
- Full Text :
- https://doi.org/10.1002/pd.5298