Purpose

Major congenital malformations are common, are the leading cause of neonatal mortality, contribute substantially to chronic disease morbidity and have a high societal cost. Primary care providers who encounter newborns with malformations should be able to deal with their medical needs as well as the impact of malformations on the family. Accurate diagnosis is required for appropriate management and for counseling families about prognosis, treatment options, recurrence risks and resources for further information and support. The explosion of new information pertinent to etiology of birth defects makes it most important for the primary care provider to remain current in this area.

This Guideline describes critical components of the diagnosis and initial management of newborns with one or more congenital malformations for use by health care providers who care for newborn infants, irrespective of specialty orientation. It was developed in response to the perception that some newborns with malformations receive inadequate evaluation while others are inappropriately or excessively investigated. The orderly process described in the Guideline includes components which should be part of the evaluation of any newborn with one or more congenital anomalies, but does not specify an inflexible sequence, recognizing that evaluation involves repeated synthesis and modification of the process as information is gathered. Although many of the components of the Guideline reflect usual practice, some aspects require greater emphasis in this setting. For purposes of completeness, a comprehensive process is described. It is hoped that this Guideline will help health care providers to better evaluate these newborns, use limited resources wisely and make appropriate referrals for more specialized care.

The Guideline is intended to cover common situations and is not meant to be encyclopedic. Providers need to consider their personal level of comfort and expertise as well as their geographical practice setting when evaluating more complex cases. If significant components of the process cannot be accomplished in the primary care setting, referral should be made to a medical genetics specialist.

Return to Clinical Guidelines, Standards & Quality of Care