Prenatal diagnosis and genetic analysis of 17 fetuses with skeletal dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1217-1221, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-879470
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Bone Diseases, Developmental
/
Genetic Testing
/
Ultrasonography, Prenatal
/
Receptor, Fibroblast Growth Factor, Type 3
/
Fetus
/
Karyotyping
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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