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A guide to the recognition of skeletal disorders in the fetus
1Starship Children's Hospital and National Women's Ultrasound Department, Grafton, Auckland, New Zealand. teele@mac.com
Insights
Prenatal ultrasound detection of fetal skeletal abnormalities requires detailed examination. Severe pulmonary hypoplasia indicates lethality, while diagnosing osteochondrodysplasia necessitates a multidisciplinary approach for parental guidance.
Area of Science:
- Prenatal imaging and skeletal dysplasias.
Background:
- Prenatal ultrasound (US) detection of fetal skeletal abnormalities necessitates further investigation.
- Accurate diagnosis and prognosis are crucial for parental counseling.
Purpose of the Study:
- To outline the recommended extended examination protocol for fetuses with suspected skeletal abnormalities.
- To emphasize the importance of a multidisciplinary approach in diagnosing and managing fetal osteochondrodysplasias.
Main Methods:
- Detailed fetal skeletal imaging including specific views and measurements.
- Assessment for associated anomalies, particularly pulmonary hypoplasia.
Main Results:
- Severe pulmonary hypoplasia is a predictor of lethality.
- Diagnosis of specific fetal osteochondrodysplasias remains challenging.
Conclusions:
- A collaborative approach involving obstetrics, neonatology, and genetics is essential.
- Expertise from pediatric radiologists experienced in osteochondrodystrophies is valuable for accurate assessment and parental information.
Abstract:
The discovery of fetal skeletal abnormality on prenatal US mandates an extended study of the fetus. This extended examination includes specific views and measurements of the fetal skeleton. Lethality can be predicted if severe pulmonary hypoplasia is present. Specific diagnosis of a fetal osteochondrodysplasia is difficult; a collaborative approach among obstetric, neonatal and genetic services is necessary to provide the parents with all available information regarding the pregnancy. Pediatric radiologists who have experience in radiologic assessment of osteochondrodystrophies of infants and children can provide expertise in this area.
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