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Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel
Author(s) -
Zhou Xinyao,
Chandler Natalie,
Deng Linbei,
Zhou Jia,
Yuan Meizhen,
Sun Luming
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5298
Subject(s) - proband , prenatal diagnosis , fetus , dysplasia , medicine , genetic counseling , bioinformatics , pathology , genetics , biology , gene , pregnancy , mutation
Objective This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype. Methods 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). Results 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 . Conclusions 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.