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唇腭裂的产前诊断:检出率、超声检查准确性、相关异常及咨询策略

Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling.

作者信息

Jones Marilyn C

机构信息

Sharp-Children's Prenatal Diagnostic Center and Cleft Palate and Craniofacial Treatment Programs, Children's Hospital, San Diego, CA 92123, USA.

出版信息

Cleft Palate Craniofac J. 2002 Mar;39(2):169-73. doi: 10.1597/1545-1569_2002_039_0169_pdocla_2.0.co_2.

Abstract

As ultrasound becomes more widely utilized in pregnancy and imaging technology improves, cleft lip and palate will become more commonly identified in prenatal life. In efforts to meet the needs for information regarding cause and management, pregnant women and their partners are increasingly referred to cleft and craniofacial treatment programs. This group of patients provides unique challenges to professionals unfamiliar with the issues inherent to this population. Information regarding the extent of the defect and the absence of associated abnormalities is usually incomplete. Treatment teams may be uncomfortable with the possibility that couples may choose not to continue a pregnancy on the basis of what they hear. Currently between 14% and 25% of cleft lip, with or without cleft palate, is detected antenatally. About 12% of presumably isolated clefts will be one feature in a broader pattern of malformation. This article reviews the current status of ultrasound in the detection of clefts during pregnancy and outlines a strategy for counseling based on the author's experience in both a prenatal diagnosis program and a cleft-craniofacial treatment team.

摘要

随着超声在孕期的应用越来越广泛以及成像技术的改进,唇腭裂在产前更容易被发现。为了满足孕妇及其伴侣对唇腭裂病因及治疗相关信息的需求,他们越来越多地被转诊至唇腭裂及颅面治疗项目。对于不熟悉该人群固有问题的专业人员来说,这类患者带来了独特的挑战。关于缺损程度及是否存在相关异常的信息通常并不完整。治疗团队可能会因夫妇可能基于所闻而选择终止妊娠的可能性而感到不安。目前,产前检测出的唇裂(无论是否伴有腭裂)占唇裂总数的14%至25%。大约12%的单纯性唇裂可能是更广泛畸形模式的一个特征。本文回顾了孕期超声检测唇腭裂的现状,并根据作者在产前诊断项目和唇腭裂颅面治疗团队的经验,概述了咨询策略。

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