女性尿直肠隔畸形序列征产前超声表现

Prenatal sonographic findings of urorectal septum malformation sequence in female

目的总结分析胎儿尿直肠隔畸形序列征产前超声声像图及引产胎儿尸检特征。方法对2003年1月至2012年12月在南方医科大学附属深圳市妇幼保健院产前超声诊断的11例尿直肠隔畸形序列征胎儿超声图像表现和产后尸检特点进行总结分析。结果 11例尿直肠隔畸形序列征胎儿产前超声均显示腹腔内巨大囊性包块(双房或单房囊性结构2例,三房囊性结构9例,囊内透声清亮3例,囊内透声浑浊8例)和肛门闭锁,其中7例肾脏异常,6例伴腹腔积液;3例可见肠石症;伴发其他系统畸形包括脊髓栓系2例、单脐动脉2例、脐带囊肿2例、骶尾部发育不良1例、心肌致密化不全1例。染色体检查发现21-三体1例。引产胎儿标本尸检证实11例均为女性,有单个会阴开口,外生殖器性别不清楚,阴蒂肥大及阴唇融合;内生殖器异常包括双阴道或阴道纵隔9例,双子宫或双角子宫10例,阴道发育不良1例。结论尿直肠隔畸形序列征是一种包括泌尿系统、生殖系统、胃肠道异常的复杂先天畸形,腹腔内囊性包块是女性尿直肠隔畸形序列征的特征改变,具有重要诊断价值,产前超声发现肾脏异常及外生殖器性别不清楚有助于诊断尿直肠隔畸形序列征。

Objective To summarize and analyze prenatal ultrasound and postnatal autopsy findings in fetuses with urorectal septum malformation sequence（URSMS）. Methods An analysis of prenatal ultrsound findings and postnatal autopsy features was performed on eleven cases of fetuses with URSMS that were identified by ultrasonography at Shenzhen Maternity Child Healthcare Hospital in the period of January 2003 to December 2012. Results Prenatal ultrasonography showed a large abdominal cystic mass concomitant with imperforate anus in eleven fetuses with URSMS. The cyst contained unilocular or bilocular cystic structures in two fetuses, and trilocular cystic structures in nine fetuses. The cyst was demonstrated as clear acoustic transmission in three fetuses and unclear in eight fetuses. Out of them, seven fetuses had kidney abnormalities, six had ascites, and three had enterolithiasis. The associated systemic abnormalities included tethered cord in two fetuses, single umbilical artery in two fetuses, sacrococcygeal dysplasia in one fetus, and myocardial noncompaction in one fetus. 21-trisomy was found in one fetus by chromosome examination. Eleven cases were all identified as female fetuses by autopsy findings, including a single perineal opening and ambiguous genitalia with clitoral hypertrophy and labial fusion. The internal genital abnormalities included double vagina or longitudinal vaginal septum in nine fetuses, double uterus or uterus bicornis in ten fetuses and vaginal dysplasia in one fetus. Conclusions URSMS is a complex congenital malformation, which includes abnormalities of the urinary system, reproductive system and gastrointestinal track. An abdominal cystic mass visualized by prenatal ultrasonography might be the distinctive lesion in female with URSMS, and have an important diagnostic value. The kidney abnormalities and ambiguous genitalia can contribute to the diagnosis of URSMS.