Sensibilité du diagnostic échographique des malformations de la main. À propos de 80 cas

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.