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[超声诊断对手部畸形的敏感性。约80例]

[Sensitivity of ultrasonographic diagnosis in hand malformations. About 80 cases].

作者信息

Martin G, Perrot P, Duteille F

机构信息

Service des brûlés et de chirurgie plastique, CHU de Nantes, 30, boulevard Jean-Monnet, 44093 Nantes cedex 1, France.

Service des brûlés et de chirurgie plastique, CHU de Nantes, 30, boulevard Jean-Monnet, 44093 Nantes cedex 1, France.

出版信息

Ann Chir Plast Esthet. 2014 Jun;59(3):151-4. doi: 10.1016/j.anplas.2013.04.005. Epub 2013 Jun 5.

Abstract

During pregnancy, the Haute Autorité de santé (HAS) recommends to realize three ultrasonographic evaluations, notably for the early detection of congenital malformations. Yet, in our experience, ultrasonographic antenatal diagnoses of hand malformations are rare. This is both a retrospective (years 2003-2008) and a prospective study (2009-2012). It quantifies the sensibility of hand malformations ultrasonographic diagnosis. Questionnaires have been sent or given during consultations to parents of children with upper limb malformation. The parents' acceptance of diagnosis and their anxiety have been evaluated. Eighty-eight malformations have been recruited for our series. Only 11 antenatal diagnoses have been made. Thus, sonographic diagnosis sensibility is 12.5% in our series. Thirty-nine percent of the parents have been shocked by the absence of diagnosis at birth. The sensibility of hand malformation ultrasonographic diagnosis is rarely documented in literature. It is generally low. This diagnosis may raise concerns about eugenism and legal issues. However, congenital malformations, even in the absence of a diagnosis, must be taken care of by a clearly determined network. Our results highlight difficulties of prenatal diagnosis of upper limb malformations. A lot of questions arise: what information should be delivered to the parents? Should antenatal ultrasonographic diagnosis be legislated? "Minor" malformations are often well managed by the parents, but "major" malformations ignored often raise legal issues.

摘要

在孕期,法国卫生高级管理局(HAS)建议进行三次超声评估,特别是用于先天性畸形的早期检测。然而,根据我们的经验,产前超声诊断手部畸形的情况很少见。这是一项回顾性研究(2003 - 2008年)和前瞻性研究(2009 - 2012年)。它量化了手部畸形超声诊断的敏感性。已在咨询期间向患有上肢畸形儿童的父母发送或提供问卷。评估了父母对诊断的接受程度及其焦虑情况。我们的系列研究招募了88例畸形病例。仅做出了11例产前诊断。因此,在我们的系列研究中,超声诊断敏感性为12.5%。39%的父母因出生时未得到诊断而感到震惊。手部畸形超声诊断的敏感性在文献中很少有记录。其通常较低。这种诊断可能引发对优生学和法律问题的担忧。然而,先天性畸形,即使在未得到诊断的情况下,也必须由一个明确确定的网络来处理。我们的结果凸显了上肢畸形产前诊断的困难。出现了许多问题:应该向父母提供哪些信息?产前超声诊断是否应该立法?“轻微”畸形通常由父母妥善处理,但经常被忽视的“严重”畸形往往会引发法律问题。

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