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Objective correlation between fetal bone limb system malformation and chromosomal abnormalities. Methods A retrospective analysis of pregnant women with prenatal diagnosis centers and abnormal fetal limbs dysplasia from January 2013 to August 2018 was conducted. Results 33 fetuses with abnormal skeletal limbs, 9(27.27%)abnormal karyotypes were detected, including 4 cases of 18-trisomy and 5 cases of chromosome structural abnormalities. There were 13 cases of single bone limb system malformation and 1 case of abnormal karyotype. The skeleton was accompanied by 20 other malformations and 8 abnormal karyotypes. The karyotype rate of multiple system malformation chromosomal abnormalities was higher than that of single bone limb system, and the difference was statistically significant(χ2=4. 146 1,P<0.05). The 9 abnormal karyotypes detected were concentrated in the early and mid-pregnancy(≤28 weeks). Conclusion The number of chromosomes or structural changes is an important factor leading to the abnormal development of the fetal limbs, and the detection rate of chromosomal abnormalities of bones with other system malformations is higher than that of single bone limbs. [ABSTRACT FROM AUTHOR]