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Prenatal diagnosis of musculoskeletal anomalies
David Keret1, Moshe Bronshtein, Shlomo Weintroub
1Department of Pediatric Orthopaedics, Dana Children's Hospital, and the Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel. pedorth@tasmc.health.gov.il
Insights
Prenatal diagnosis of musculoskeletal anomalies is crucial for prognostication and parental counseling. Early transvaginal ultrasonography offers effective screening for fetal development and potential abnormalities.
Area of Science:
- Medical Imaging
- Prenatal Diagnosis
- Fetal Medicine
Background:
- Musculoskeletal anomalies are common prenatal conditions, varying from sporadic to syndromic.
- These anomalies can significantly impact prenatal morbidity and mortality.
- Accurate diagnosis is essential for prognosis and parental guidance.
Purpose of the Study:
- To outline the diagnostic approach for prenatal musculoskeletal anomalies.
- To review available information on common fetal musculoskeletal conditions.
- To emphasize the role of imaging and genetic workups.
Main Methods:
- Ultrasonography is the primary imaging modality for fetal development assessment.
- Transvaginal sonography enables early detection of normal and pathological changes.
- Biochemical and genetic analyses supplement imaging findings.
Main Results:
- Early transvaginal sonography at 14-15 weeks is highly beneficial.
- Screening as early as the ninth week is indicated for high-risk pregnancies.
- Late-term screening (20-23 weeks) may offer supplementary data.
Conclusions:
- Prenatal diagnosis of musculoskeletal anomalies relies on integrated imaging, biochemical, and genetic data.
- Timely ultrasonography is key for identifying fetal anomalies.
- Genetic counseling is recommended for suspected abnormalities.
Abstract:
Musculoskeletal anomalies are not uncommon in prenatal life. They can be either sporadic or part of chromosomal syndromes causing prenatal morbidity and mortality. The prenatal diagnosis of musculoskeletal anomalies is based on information assembled from various imaging modalities and from biochemical and genetic workups. The prenatal diagnosis can serve as a prognostic tool and in counseling the parents. Among the imaging methods, ultrasonography is the most popular and cost effective in observing and following fetal development from the very early stages of gestation. Transvaginal sonography can detect and identify most of the normal and the specific pathologic changes very close to the stage of their embryogenic development. From a practical point of view, early detailed transvaginal sonography screening at 14 to 15 weeks of gestation is very useful while late detection at 20 to 23 weeks of gestation may provide some additional information in low-risk pregnancies. Very early screening, even during the ninth week, may be indicated in high-risk pregnancies. Additional genetic counseling is recommended when abnormal findings are suspected. We summarize the diagnostic approach and the information available for the most common musculoskeletal anomalies.
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