探讨Pierre Robin序列征（PRS）胎儿的产前超声特征及临床特点，旨在分析PRS胎儿的超声表现与出生后临床结局之间的关系，为产前诊断和围产期管理提供参考依据。

回顾性分析2019年1月至2024年12月重庆市妇幼保健院完成产前超声检查并诊断为PRS的23例胎儿资料，所有病例均经引产或分娩后检查确诊。采用多切面超声对胎儿进行评估，量化指标包括下颌面部角（IFA）、下颌指数（JI），并对舌后坠、腭裂类型进行形态学观察，同时记录合并畸形情况。进一步收集病例的临床资料、遗传学检测结果（包括染色体微阵列分析、全外显子测序等）及妊娠结局，系统总结PRS胎儿的产前超声特征、临床特点及预后相关因素。

（1）超声特征：23例PRS胎儿均存在小下颌（IFA范围33.7°~49.6°，均值44.2°±3.8°；JI范围21.4~46.1，均值31.1±6.7）及舌后坠（100%）；腭裂检出率为100%（23/23），其中U型腭裂占26.1%（6/23）；合并畸形发生率为52.2%（12/23），以循环系统异常（26.1%，6/23）和神经系统异常（21.7%，5/23）最常见。（2）遗传学：7例行遗传学检查，其中2例通过全外显子组测序检出临床意义未明基因变异。（3）妊娠结局：19例选择引产终止妊娠；4例继续妊娠并活产（其中3例为孤立性PRS，1例合并心脏异常）。活产新生儿中，3例需机械通气支持，1例未使用机械通气，均于出生后接受手术治疗，随访1年预后良好。

PRS产前诊断需联合多切面超声的系统评估，结合遗传学检测可识别综合征型病例，并通过多学科协作下的分层管理可优化妊娠结局及改善孤立性病例的预后。

To investigate the prenatal ultrasonographic features and clinical characteristics of fetuses with Pierre Robin sequence (PRS) and analyze the correlation between prenatal ultrasound findings and postnatal clinical outcomes, so as to provide reference for prenatal diagnosis and perinatal management.

A retrospective analysis was conducted on 23 fetuses diagnosed with PRS by prenatal ultrasound at Chongqing Health Center for Women and Children between January 2019 and December 2024. All cases were confirmed by postnatal examination or postmortem evaluation following termination of pregnancy. Multiphase ultrasound assessments were performed, including quantitative measurements of the inferior facial angle (IFA) and jaw index (JI), as well as morphological evaluations of glossoptosis and cleft palate types. Associated malformations were also recorded. Clinical data, genetic testing results (including chromosomal microarray analysis and whole-exome sequencing [WES]), and pregnancy outcomes were collected to systematically summarize the clinical features and prognostic factors of PRS fetuses.

Regarding ultrasonographic features, all 23 cases exhibited micrognathia (IFA range: 33.7°~49.6°, mean: 44.2°±3.8°; JI range: 21.4~46.1, mean: 31.1±6.7) and glossoptosis (100%). Cleft palate was detected in all cases (23/23), with U-shaped cleft palate accounting for 26.1% (6/23). Associated malformations were present in 52.2% (12/23) of cases, with circulatory system anomalies (26.1%, 6/23) and nervous system anomalies (21.7%, 5/23) being the most frequently observed. Genetic testing was conducted in 7 cases, of which 2 exhibited variants of uncertain significance (VUS) on WES. Regarding pregnancy outcomes, termination of pregnancy was elected in 19 cases, while the remaining 4 cases continued to term, resulting in live births (3 isolated PRS, 1 with cardiac anomaly). Among the live births, 3 required mechanical ventilation for respiratory support, while 1 did not. All 4 neonates underwent postnatal surgical intervention, and favorable outcomes were observed during the 1-year follow-up.

Prenatal diagnosis of PRS requires integrated multiphase ultrasound and genetic testing. Multidisciplinary stratified management may improve pregnancy outcomes and prognosis, particularly in isolated cases.