Fetal musculoskeletal anomalies have become easier to detect, thanks to technological advancements in 3D and 4D ultrasound equipment and its capability to characterize fetal deformities, according to a recent article in the Journal of Pediatric Orthopaedics.
Because the majority of isolated musculoskeletal anomalies can be treated successfully, parents need to be offered immediate counseling by a pediatric orthopedic surgeon to learn what surgical options will be possible, said authors from Children's Hospital Boston (J Pediatr Orthop, March 2010, Vol. 30:2 Supplement, pp. eS35-S39).
The rate of reported musculoskeletal fetal anomalies is approximately 0.6%, compared to 2% for congenital anomalies. The reported incidence of upper extremity anomalies is one in 1,000 fetuses and may include cleft hands; clasped thumb; bent, overlapping, and/or webbed fingers; extra or missing fingers; and radial dysplasia.
The most common lower extremity anomaly that can be identified in a prenatal ultrasound is clubfoot. An isolated clubfoot may suggest the presence of other fetal abnormalities, according to lead author Dr. Susan Mahan, a pediatric orthopedic surgeon at Children's Hospital, and Dr. James Kasser. Other lower extremity musculoskeletal anomalies include dislocated knees or hips, curly toes, cleft foot, congenital short femur, proximal femoral focal dysplasia, and fibular hemimelia.
Once a musculoskeletal anomaly is identified, the authors recommend that a pediatric orthopedic surgeon be consulted to provide information about the probability of the correct in utero diagnosis, the severity of the expected deformity, treatment options, and the likelihood of a happy and productive life of the unborn child.
They warn that parents-to-be who do not receive an immediate explanation and counseling about the diagnosis may become excessively fearful and form inappropriate opinions about the child's condition, especially with easy access through the Internet to both accurate and inaccurate clinical information.
With timely counseling, parents will be better informed of treatment expectations and will be able to make more knowledgeable decisions with their obstetricians with respect to managing the pregnancy once a musculoskeletal deformity is identified, the authors suggested.
By Cynthia E. Keen
AuntMinnie.com staff writer
April 2, 2010
Related Reading
Does keepsake ultrasound lead to gender abortions in Calif.? March 30, 2010
Cochrane: Doppler US improves high-risk pregnancies, January 20, 2010
Study finds sharp rise in prenatal ultrasound use in Canada, January 7, 2010
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![Examples of ultrasound findings and techniques. (A) Images in a 39-year-old male patient with a mass in the left thigh. The mass is heterogeneous on the B-mode US image (compared with the patient in D) and showed increased microvascularity (superb microvascular imaging [SMI]) and shear-wave elastography (SWE) values. Undifferentiated pleomorphic sarcoma was diagnosed at biopsy (with pleomorphic rhabdomyosarcoma in surgical specimen). (B) Images in an 18-year-old male patient with a mass in the left leg. The mass is hypoechoic on the B-mode image, with no other findings suggestive of malignancy. The lesion is in contact with the cortex of the tibia, which is slightly irregular. CT revealed a doubtful anteromedial tibial erosion. The microvascular study demonstrated high vascularization, suggestive of malignancy. Periosteal Ewing sarcoma was diagnosed with both histologic and immunohistochemical confirmation. (C) Images in a 69-year-old female patient with a lump growing on the outside of the left leg. Multiple SWE examinations were performed (please note the high values obtained in the measurements, whereas the color map highlights the stiffness relative to adjacent tissues). SMI showed areas of increased vascularization to target for sampling. Undifferentiated spindle cell sarcoma was diagnosed at biopsy, with residual leiomyosarcoma in the surgical specimen after neoadjuvant therapy. (D) Images in a 56-year-old female patient with a mass in the right thigh. The mass is heterogeneous at both B-mode ultrasound (similar to patient A) and MRI (coronal T2-weighted spectral attenuated inversion recovery [SPAIR]; T1-weighted pre-contrast and postcontrast imaging), which even shows uptake after the administration of paramagnetic contrast material, which is traditionally suggestive of malignancy. Low values at SMI and elastography are suggestive of benignity. Spindle cell lipoma was diagnosed at biopsy, with atypical spindle cell lipomatous tumor in the surgical specimen.](https://img.auntminnie.com/mindful/smg/workspaces/default/uploads/2026/08/images-radiol250278fig2.APCFLSvX6p.jpg?auto=format%2Ccompress&dpr=2&fit=crop&h=167&q=70&w=250)