胎儿点状软骨发育不良产前超声表现

目的 观察胎儿点状软骨发育不良(CDP)产前超声表现。方法 回顾性收集4胎经产前超声及全外显子测序确诊的CDP胎儿,观察其超声表现,记录妊娠结局。结果 4胎CDP胎儿超声均见股骨、肱骨干骺端点状强回声;其中3胎合并肢根型短肢畸形、3胎合并脊柱发育异常,1胎合并Binder综合征,1胎合并鼻泪管囊肿和羊水偏多。经全外显子测序确诊后4胎均接受引产。结论 胎儿CDP产前超声表现包括长骨干骺端点状强回声合并肢根型短肢畸形、脊柱相关异常或Binder综合征等,具有一定特征性。

Prenatal ultrasonic manifestations of fetal chondrodysplasia punctate

Objective To observe prenatal ultrasonic manifestations of fetal chondrodysplasia punctate (CDP). Methods Four fetuses diagnosed as CDP using prenatal ultrasound and whole exon sequencing were retrospectively enrolled. The ultrasonic manifestations were observed, and the pregnancy outcomes were recorded. Results Prenatal ultrasound detected punctate strong echogenicity at femur and humerus diaphyseal epiphysis in all 4 fetuses, 3 complicated with short limb root malformations, 3 complicated with spinal anomalies, 1 complicated with Binder''s syndrome and 1 complicated with nasolacrimal duct cyst and hyperamniotic fluid. After confirmation by whole exon sequencing, induced labour was performed in all 4 fetuses. Conclusion Prenatal ultrasonic manifestations of fetal CDP included punctate strong echogenicity at femur and humerus diaphyseal epiphysis complicated with short limb root malformations, spinal anomalies or Binder''s syndrome, having certain characteristics.