Suspected fetal skeletal malformations or bone diseases: how to explore

Area of Science:

• Medical Imaging
• Genetics
• Pediatrics

Background:

• Skeletal dysplasias encompass diverse congenital disorders impacting bone development, leading to skeletal deformities.
• Prenatal ultrasound (US) reliably detects skeletal abnormalities, yet precise diagnosis is often hindered by variable phenotypes, onset timing, and limited molecular insights.
• Accurate antenatal diagnosis and prognosis are crucial, as some skeletal dysplasias carry severe disability or lethal outcomes.

Purpose of the Study:

• To evaluate the utility of two-dimensional (2-D) US, three-dimensional (3-D) US, and computed tomography (CT) in the antenatal assessment of skeletal malformations.
• To discuss the challenges in prenatal diagnosis of skeletal dysplasias, including phenotypic variability and diagnostic limitations.
• To highlight the importance of establishing a prognosis for skeletal dysplasias detected prenatally.

Main Methods:

• Review of the roles of 2-D US, 3-D US, and CT in assessing fetal skeletal development.
• Discussion of diagnostic challenges, including phenotypic heterogeneity and lack of molecular diagnosis.
• Emphasis on the clinical relevance of antenatal diagnosis and prognosis.

Main Results:

• Ultrasound (US) is effective for detecting prenatal skeletal abnormalities.
• Precise diagnosis of specific skeletal dysplasias prenatally is often difficult.
• Prognostication is a critical aspect of antenatal assessment for skeletal malformations.

Conclusions:

• Advanced imaging techniques like 3-D US and CT, alongside traditional 2-D US, aid in antenatal skeletal assessment.
• Overcoming diagnostic challenges requires integrating imaging findings with clinical context.
• Accurate prenatal evaluation is vital for managing skeletal dysplasias and informing patient prognosis.