Affiliations: The Center for Fetal Diagnosis and Treatment at the
Children's Hospital of Philadelphia, PA, USA | Department of Obstetrics and Gynecology, University of
Calgary, Canada
Note: [] Address for correspondence: Stefanie B. Kasperski, Center for Fetal
Diagnosis and Treatment, 34th Street and Civic Center Boulevard, Philadelphia,
PA 19104-4399, USA. Tel.: +1 800 IN UTERO; Fax: +1 (215) 590 2447; E-mail:
Kasperski@email.chop.edu
Abstract: Congenital limb deficiencies/hypoplasias are a heterogeneous group
of anomalies that range from mild abnormalities of little long-term clinical
significance to the severe limb-reduction defects spectrum associated with
fetal thalidomide exposure. This article reviews the approach to the prenatal
evaluation of congenital limb deficiency/hypoplasia and provides an overview of
selected limb reduction defects along with a discussion of etiology and genetic
aspects. A case report detailing the prenatal evaluation of a fetus with a
skeletal dysplasia illustrates the importance of a comprehensive,
multidisciplinary and dysmorphology-based approach.
