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胎儿唇腭裂:超声诊断与产后结局

Fetal cleft lip and palate: sonographic diagnosis and postnatal outcome.

作者信息

Benacerraf B R, Mulliken J B

机构信息

Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Mass.

出版信息

Plast Reconstr Surg. 1993 Nov;92(6):1045-51. doi: 10.1097/00006534-199311000-00007.

DOI:10.1097/00006534-199311000-00007
PMID:8234500
Abstract

This is a retrospective analysis of neonatal outcome in 32 fetuses diagnosed over a 3 1/2-year period as having cleft lip and palate by ultrasonographic examination. Unilateral versus bilateral complete cleft lip was accurately diagnosed in fetuses after 16 weeks' gestation. Incomplete cleft lip was more easily detected after 27 weeks' gestation. In only three newborns was the severity of the cleft overappraised. In no instance was a complete cleft lip mistakenly diagnosed as an incomplete form. The fetuses with labial clefting also were categorized sonographically as those without associated abnormalities (n = 15) and those with other detectable anomalies (n = 17), of which 5 had autosomal trisomy. One neonate assessed in utero to have an isolated unilateral incomplete cleft lip had vertebral/rib anomalies and died soon after birth of unsuspected pulmonic stenosis. This study confirms the accuracy of prenatal sonographic examination and underscores the high incidence of spontaneous fetal loss (terathanasia) that occurs whenever cleft lip/palate is associated with aneuploidy or other malformations.

摘要

这是一项回顾性分析,研究对象为在3年半时间里经超声检查诊断为唇腭裂的32例胎儿的新生儿结局。妊娠16周后可准确诊断胎儿的单侧与双侧完全性唇裂。妊娠27周后更容易检测到不完全性唇裂。只有3例新生儿的唇裂严重程度被高估。在任何情况下,完全性唇裂都不会被误诊为不完全性唇裂。唇裂胎儿在超声检查中也被分为无相关异常者(n = 15)和有其他可检测到的异常者(n = 17),其中5例患有常染色体三体。1例在子宫内评估为孤立性单侧不完全性唇裂的新生儿有椎体/肋骨异常,出生后不久因未被怀疑的肺动脉狭窄死亡。本研究证实了产前超声检查的准确性,并强调了唇裂/腭裂与非整倍体或其他畸形相关时发生自然胎儿丢失(自然流产)的高发生率。

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1
Fetal cleft lip and palate: sonographic diagnosis and postnatal outcome.胎儿唇腭裂:超声诊断与产后结局
Plast Reconstr Surg. 1993 Nov;92(6):1045-51. doi: 10.1097/00006534-199311000-00007.
2
Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses.胎儿唇腭裂:70例胎儿的超声诊断、染色体异常、相关畸形及出生后结局
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Antenatal detection of cleft lip with or without cleft palate: incidence of associated chromosomal and structural anomalies.产前检测唇裂伴或不伴腭裂:相关染色体和结构异常的发生率。
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[Management of cleft lip and/or palate diagnosed in utero].[胎儿期诊断的唇裂和/或腭裂的管理]
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Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate.伴有或不伴有腭裂的胎儿唇裂中的染色体缺陷及相关畸形。
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Prevalence of aneuploidy and additional anatomic abnormalities in fetuses and neonates with cleft lip with or without cleft palate: a population-based study in Utah.唇裂伴或不伴腭裂胎儿及新生儿的非整倍体及其他解剖学异常的患病率:犹他州一项基于人群的研究
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Bilateral cleft lip and palate diagnosed sonographically at 11 weeks of pregnancy.妊娠11周时超声诊断为双侧唇腭裂。
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Prenatal ultrasonographic diagnosis of cleft lip with or without cleft palate; pitfalls and considerations.唇裂伴或不伴腭裂的产前超声诊断:陷阱与注意事项
Maxillofac Plast Reconstr Surg. 2015 Aug 14;37(1):24. doi: 10.1186/s40902-015-0019-z. eCollection 2015 Dec.
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Syndromes of the first and second branchial arches, part 1: embryology and characteristic defects.
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