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This research aims to explore the detection of lethal skeletal dysplasias through antenatal ultrasound and assess associated perinatal outcomes.

Lethal skeletal dysplasia detected by antenatal ultrasound: Achondrogenesis type II

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This research aims to explore the detection of lethal skeletal dysplasias through antenatal ultrasound and assess associated perinatal outcomes.
Antenatal ultrasound was performed at 15 weeks gestation to evaluate fetal skeletal development.
The case involved a 24-year-old primigravida experiencing non-specific abdominal pain.
Post-termination radiographs were analyzed for skeletal abnormalities.
Ultrasound indicated shortening of all long bones to <5th percentile and poor spine ossification.
Radiographic findings confirmed narrow chest, poor spine ossification, and severe tetramelic deformities consistent with achondrogenesis type II.

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Randomized trial reveals poor perinatal outcomes in fetuses with lethal skeletal dysplasias, suggesting the need for early detection.

Sukumaran et al. (2026) studied this question.

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