Al-Kouatly H B, Chasen S T, Streltzoff J, Chervenak F A
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, New York Presbyterian Hospital-Weill Medical College of Cornell University, NY 10021, USA.
Am J Obstet Gynecol. 2001 Nov;185(5):1035-8. doi: 10.1067/mob.2001.117671.
The purpose of this study was to determine the incidence of cystic fibrosis, aneuploidy, and intrauterine infection with toxoplasmosis and cytomegalovirus in second-trimester fetuses with the sonographic finding of echogenic bowel.
All cases of echogenic bowel that were diagnosed in our ultrasound unit from 1993 to 2000 were identified. Only cases in which bowel echogenicity was as bright as bone with no associated major fetal anomalies were included. Patients who were referred from other hospitals were excluded. Echogenicity was classified as focal or multifocal. Fetal karyotypes, cystic fibrosis carrier testing, and maternal serologic test results were determined.
One hundred seventy-five fetuses in 171 pregnancies met inclusion criteria. Cystic fibrosis mutations were identified in 7 of 138 mothers (5%) and 9 of 86 fathers (10.5%) who were tested. Five fetuses were affected with cystic fibrosis. Fetal karyotype was obtained in 139 cases, and autosomal trisomy was diagnosed in 5 cases (3.6%). One hundred sixty-six patients were tested for toxoplasmosis, and 111 patients were tested for cytomegalovirus. There were no cases of congenital toxoplasmosis. There was maternal serologic and fetal pathologic evidence of cytomegalovirus infection in 1 case. In all cases of cystic fibrosis and aneuploidy, echogenicity was multifocal; in the case of cytomegalovirus, echogenicity was focal.
In our population, mid-trimester fetal echogenic bowel was associated with a high prevalence of cystic fibrosis, aneuploidy, and cytomegalovirus (11/175 fetuses [6.3%]). This information should be considered when counseling patients after mid-trimester echogenic bowel is diagnosed.
本研究旨在确定妊娠中期超声检查发现肠管回声增强的胎儿中，囊性纤维化、非整倍体以及弓形虫和巨细胞病毒宫内感染的发生率。
确定了1993年至2000年在我们超声科诊断出的所有肠管回声增强病例。仅纳入肠管回声与骨骼一样明亮且无相关重大胎儿异常的病例。排除从其他医院转诊的患者。将回声分为局灶性或多灶性。确定胎儿核型、囊性纤维化携带者检测结果和母体血清学检测结果。
171例妊娠中的175例胎儿符合纳入标准。在接受检测的138名母亲中的7名（5%）和86名父亲中的9名（10.5%）中鉴定出囊性纤维化突变。5例胎儿患有囊性纤维化。139例获得了胎儿核型，5例（3.6%）诊断为常染色体三体。166例患者接受了弓形虫检测，111例患者接受了巨细胞病毒检测。无先天性弓形虫病病例。1例有母体血清学和胎儿病理学证据表明存在巨细胞病毒感染。在所有囊性纤维化和非整倍体病例中，回声为多灶性；在巨细胞病毒病例中，回声为局灶性。
在我们的研究人群中，妊娠中期胎儿肠管回声增强与囊性纤维化、非整倍体和巨细胞病毒的高患病率相关（175例胎儿中的11例[6.3%]）。在妊娠中期诊断出肠管回声增强后为患者提供咨询时应考虑这些信息。
