[Expert consensus on the prenatal ultrasound screening, diagnosis, and genetic counseling for Limb developmental defects (2025 Edition)].

Fetal limb development defects have a relatively high incidence among congenital skeletal development abnormalities, for which genetic variations are important causes. Standardized prenatal ultrasound screening, diagnosis, and genetic testing and counseling play a significant role in the early diagnosis, intervention, and treatment of limb development defects. This consensus provides practical operation methods for prenatal ultrasound screening and diagnosis of major long bones of the limbs (femur, tibia/fibula, humerus, ulna/radius) defects and complete absence of hands and feet, in addition with standardized guidance for the detection path of genetic variations and genetic counseling, with an aim to provide a systematic reference for prenatal diagnosis and counseling of fetal limb development defects in clinical practice.