Prenatal diagnosis of upper limb reduction deficiencies

Ultrasonography has become an indispensable tool in prenatal care providing a throughout screening of the morphological abnormalities of the foetus. The examination of the upper limbs is now part of a routine screening checklist available in France since 2005. Recent progress in past years has focused on the early detection of reductional anomalies. As early as the first trimester scan, the three segments of the upper limb are apparent and transversal anomalies can be easily detected. Early diagnosis of malformations may lead to ethical considerations since women may request for medical termination of pregnancy. Apart from transversal anomalies of the limb which remain most of the time accidental, genetic syndromes may also lead to longitudinal reductions of the upper limb. In such cases, ultrasound may be helpful in genetic counselling by detecting other associate malformations. The search for associate malformations in favour of a genetic syndrome is therefore mandatory before referral to a prenatal consultation with the surgeon. Three-dimensional ultrasound and multi detector computed tomography (MDCT) are being increasingly used as additional procedures to improve diagnosis and long-term prognosis. (c) 2008 Publie par Elsevier Masson SAS.