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孤立性胎儿高回声肠管:意义及对处理的影响

Isolated hyperechoic fetal bowel: significance and implications for management.

作者信息

MacGregor S N, Tamura R, Sabbagha R, Brenhofer J K, Kambich M P, Pergament E

机构信息

Department of Obstetrics, Northwestern University Medical School, Evanston, IL, USA.

出版信息

Am J Obstet Gynecol. 1995 Oct;173(4):1254-8. doi: 10.1016/0002-9378(95)91365-3.

DOI:10.1016/0002-9378(95)91365-3
PMID:7485332
Abstract

OBJECTIVE

The objective of this study was to determine the significance of isolated hyperechoic fetal bowel.

STUDY DESIGN

Forty-five cases with prospective, ultrasonographic diagnosis of isolated hyperechoic fetal bowel were reviewed. Fetal variables, including aneuploidy, deoxyribonucleic acid studies for cystic fibrosis, congenital infection, growth retardation, and intrauterine death were reported.

RESULTS

Thirty-four of the 45 cases (76%) resulted in live-born infants without detected abnormalities. However, hyperechoic bowel was associated with cystic fibrosis in two cases (4%), congenital infection in two cases (4%), and fetal alcohol syndrome in one case. Termination of pregnancy was elected in three cases and intrauterine fetal death occurred in three cases (7%). Growth retardation was observed in five of 39 (13%) live-born infants.

CONCLUSION

Isolated hyperechoic fetal bowel is associated with significant pathologic disorders. Women whose fetuses are diagnosed as having isolated hyperechoic bowel should be offered additional prenatal diagnostic options, including maternal serologic studies for congenital infection, fetal karyotype, and deoxyribonucleic acid testing for cystic fibrosis. In addition, continuing ultrasonographic evaluation of fetal growth and antenatal biophysical assessment should be considered.

摘要

目的

本研究的目的是确定孤立性胎儿高回声肠管的意义。

研究设计

回顾了45例经超声前瞻性诊断为孤立性胎儿高回声肠管的病例。报告了胎儿相关变量,包括非整倍体、囊性纤维化的脱氧核糖核酸研究、先天性感染、生长迟缓及宫内死亡情况。

结果

45例病例中有34例(76%)分娩出无异常发现的活产婴儿。然而,高回声肠管与2例(4%)囊性纤维化、2例(4%)先天性感染及1例胎儿酒精综合征相关。3例选择终止妊娠,3例(7%)发生宫内胎儿死亡。39例活产婴儿中有5例(13%)观察到生长迟缓。

结论

孤立性胎儿高回声肠管与显著的病理紊乱相关。对于胎儿被诊断为孤立性高回声肠管的孕妇,应提供额外的产前诊断选项,包括针对先天性感染的母体血清学检查、胎儿核型分析以及囊性纤维化的脱氧核糖核酸检测。此外,应考虑持续超声评估胎儿生长情况及进行产前生物物理评估。

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Isolated hyperechoic fetal bowel: significance and implications for management.孤立性胎儿高回声肠管:意义及对处理的影响
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引用本文的文献

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Update and Review: Cystic Fibrosis.更新与综述:囊性纤维化
J Genet Couns. 1999 Jun;8(3):137-62. doi: 10.1023/A:1022853822424.
2
Echogenic bowel on second-trimester ultrasonography: evaluating the risk of adverse pregnancy outcome.中孕期超声检查中肠回声增强:评估不良妊娠结局的风险。
Obstet Gynecol. 2011 Jun;117(6):1341-1348. doi: 10.1097/AOG.0b013e31821aa739.
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Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation.常染色体隐性疾病的贝叶斯风险评估:胎儿肠回声增强且检测到一个或未检测到CFTR突变
J Med Genet. 2004 May;41(5):e70. doi: 10.1136/jmg.2003.015065.
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Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.囊性纤维化筛查:肠道回声增强的胎儿可能为例证病例。
J Med Genet. 1998 Aug;35(8):657-60. doi: 10.1136/jmg.35.8.657.