Pregnancy and Delivery in a Woman With Achondroplasia: A Multidisciplinary Management Approach

软骨发育不全女性的妊娠和分娩:多学科管理方法

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Abstract

Achondroplasia is the most common skeletal dysplasia, characterised by disproportionate short stature and associated with obstetric and anaesthetic challenges, with limited evidence on optimal pregnancy management. We report a 39-year-old Gravida 3 Para 2 woman with achondroplasia and two previous caesarean sections who received consultant-led, multidisciplinary antenatal care involving obstetrics, anesthesiology, cardiology, and neonatology teams. Her pregnancy was complicated by short stature, prior caesarean deliveries, and previous children affected by achondroplasia. She underwent an elective lower segment caesarean section and bilateral tubal ligation at 37 weeks under combined spinal-epidural anesthesia, delivering a live female infant weighing 2,760 grams (94.6th centile) with Apgar scores of 9 and 10. Postoperative maternal and neonatal recovery was uneventful, and the neonate showed no clinical, radiological, or genetic evidence of achondroplasia. A tailored multidisciplinary approach, early anesthetic assessment, careful delivery planning, prenatal counseling, and risk evaluation, including discussion of invasive prenatal testing, were crucial to minimize maternal and neonatal complications. Maternal postoperative care included monitoring for hypertensive episodes and adjustment of obstetric hemorrhage thresholds due to body habitus. This case highlights that pregnancy in women with achondroplasia requires individualized, multidisciplinary care to optimize maternal and neonatal outcomes, with early consultation, detailed anomaly scanning, anesthetic planning, and comprehensive risk assessment being key to successful management.

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