胎儿小下颌畸形病例的临床特点及妊娠结局:52例分析  

Clinical features and pregnancy outcomes of fetal micrognathia:an analysis of 52 cases

作　　者：陆雅萍 王雯[2] 靳元元 刘伟玲[3] 黑国真 朱晓丹[1] 王小虎[4] Lu Yaping;Wang Wen;Jin Yuanyuan;Liu Weiling;Hei Guozhen;Zhu Xiaodan;Wang Xiaohu(Department of Obstetrics and Gynecology,Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University,Jinan 250014,China;Department of Ultrasonography,Shandong Provincial Maternal and Child Health Care Hospital Afiliated to Qingdao University,Jinan 250014,China;Department of Obstetrics and Gynecology,Afiliated Maternity and Child Health Care Hospital of Nantong University,Nantong 226007,China;Department of Neonatology,Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University,Jinan 250014,China)

机构地区：[1]青岛大学附属山东省妇幼保健院妇产科,济南250014 [2]青岛大学附属山东省妇幼保健院超声科,济南250014 [3]南通大学附属南通妇幼保健院妇产科,南通226007 [4]青岛大学附属山东省妇幼保健院新生儿科,济南250014

出　　处：《中华围产医学杂志》2024年第8期637-642,共6页Chinese Journal of Perinatal Medicine

基　　金：山东省医药卫生科技发展计划(202005021490)。

摘　　要：目的总结胎儿小下颌畸形病例的临床特点及妊娠结局。方法回顾性纳入2014年1月至2022年12月青岛大学附属山东省妇幼保健院和南通大学附属南通妇幼保健院诊断的所有胎儿小下颌畸形病例52例。总结小下颌畸形病例的临床特征、遗传学检测结果及妊娠结局。根据是否合并其他系统畸形分为非孤立性小下颌畸形(49例)和孤立性小下颌畸形(3例)。非孤立性小下颌畸形病例根据是否合并腭裂分为腭裂组(21例)和非腭裂组(28例),比较组间的临床特征。采用两独立样本t检验、χ^(2)检验或Fisher精确概率法进行统计分析。结果(1)非孤立性小下颌畸形胎儿合并1~6个系统畸形,最常见颜面部畸形(59.2%,29/49),其他依次是循环系统(51.0%,25/49)、肌肉骨骼系统(44.9%,22/49)、神经系统(34.7%,17/49)、消化系统(12.2%,6/49)和泌尿系统畸形(8.2%,4/49)。(2)52例中的9例进行了遗传学检测,均为非孤立性小下颌畸形,其中6例检出遗传学异常。(3)47例选择引产终止妊娠;另5例继续妊娠并活产分娩(胎儿均为非孤立性小下颌畸形),1例由于合并多发畸形生后即放弃救治,另外4例需要机械通气辅助呼吸(2例放弃治疗;2例生后手术治疗,门诊随访1年预后良好)。(4)腭裂组与非腭裂组比较:腭裂组胎儿羊水过多[28.6%(6/21)与3.6%(1/28),Fisher精确概率法,P=0.033]和确诊Pierre Robin序列征的比例均高于非腭裂组[85.7%(18/21)与7.1%(2/28),Fisher精确概率法,P<0.001]。结论产前超声检出胎儿小下颌畸形时需全面筛查有无其他系统畸形,尤其是腭裂,同时建议完善遗传学检测。合并多系统畸形的小下颌胎儿常预后不良。小下颌畸形胎儿出生时需做好抢救准备,避免发生呼吸困难而致不良结局。ObjectiveTo summarize the clinical features and pregnancy outcomes of fetal micrognathia.MethodsThis retrospective study enrolled 52 cases of fetal micrognathia diagnosed at Shandong Provincial Maternal and Child Health Hospital Affiliated to Qingdao University and Affiliated Maternity and Child Health Care Hospital of Nantong University from January 2014 to December 2022.Clinical features,genetic testing results,and pregnancy outcomes of the cases were summarized.These cases were divided into two groups based on whether they were complicated by other system anomalies:non-isolated micrognathia(49 cases)and isolated micrognathia(three cases).The non-isolated micrognathia cases were further divided into two subgroups:cleft palate group(21 cases)and non-cleft palate group(28 cases).Clinical features were compared between different groups.Statistical analysis was performed using two independent samples t-test,Chi-square test,or Fisher's exact test.Results(1)The non-isolated micrognathia cases were complicated by one to six system anomalies,with the most common being facial anomalies(59.2%,29/49),followed by circulatory system(51.0%,25/49),musculoskeletal system(44.9%,22/49),nervous system(34.7%,17/49),digestive system(12.2%,6/49),and urinary system anomalies(8.2%,4/49).(2)Among 52 cases,nine non-isolated micrognathia cases received genetic testing,and the results indicated six with genetic abnormalities.(3)Forty-seven cases chose to terminate the pregnancies,while the other five cases continued the pregnancies(all fetuses were non-isolated micrognathia)and resulted in live births.Treatment was withdrawn in one live birth due to multiple anomalies,and the other four neonates required mechanical ventilation(two died after withdrawal of treatment;two underwent surgeries after birth and the prognosis of them was good during a one-year outpatient follow-up).(4)The proportion of women with polyhydramnios[28.6%(6/21)vs.3.6%(1/28),Fisher's exact test,P=0.033]and the proportion of fetuses with confirmed Pierre Robin sequence[

关 键 词：小下颌畸形 腭裂 遗传学检测 妊娠结局 

分 类 号：R714.5[医药卫生—妇产科学]