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  • Title: [Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia].
    Author: Lu J, Huai L, Lu C, Wu Y, Zhu H, Zhan X, Zhai H.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov 10; 37(11):1217-1221. PubMed ID: 33179224.
    Abstract:
    OBJECTIVE: To explore strategies of prenatal genetic testing for fetuses featuring abnormal skeletal development. METHODS: Clinical data of 17 fetuses with skeletal dysplasia was collected. The results of genetic testing and outcome of pregnancy were analyzed. RESULTS: For 12 fetuses, the femur-to-foot length ratio was less than 0.9. Thirteen fetuses had a positive finding by genetic testing. One fetus was diagnosed with chromosomal aneuploidy, three were diagnosed with microdeletion/microduplications, and nine were diagnosed with hereditary bone diseases due to pathological variants of FGFR3, COL1A2, GPX4 or ALPL genes. CONCLUSION: For fetuses with skeletal dysplasia characterized by short femur, in addition to chromosomal karyotyping and microarray analysis, sequencing of FGFR3 and other bone disease-related genes can improve the diagnostic rate.
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