Incidence
Epidemiologic surveys have determined limb deficiencies to occur ranging from 5 to 9.7 per 10,000 live births in a ratio of 3:1 upper to lower extremity (1). The United States does not have a formal complete registry of birth defects, so the precise number is unknown. The National Birth Defects Prevention Study has reported that 6% of all types of birth defects are limb deficiencies (2).
Early identification of limb anomalies occurs with routine ultrasound. A detailed level 3 ultrasound, as well as echo 3-D, amniocentesis, and cordocentesis to anticipate syndromes, is recommended if limb deficiencies are detected (3). Prenatal counseling will provide resources and psychological support for parents who undergo the loss of the idealized child (4,5).