Guideline
Evaluation of the Newborn with Congenital Anomalies:

 

Components of Evaluation and Care

This outline describes essential components of evaluation and care, but does not specify an inflexible sequence. Details are discussed in the Executive Summary.

An algorithm shown in Figure 1 demonstrates a method of evaluating the newborn with one or more congenital malformations.

Figure 1. Algorithm: Evaluation of the Newborn with One or More Congenital Malformations is available as a Portable Document Format (PDF) file - file size 269 KB. Click here for help with PDF files or here for a request for information in an alternate format.

A pocket memory aid for these components of care is shown in Figure 2.

Figure 2: Components of Evaluation and Care Reference Card is available as a Portable Document Format (PDF) file - file size 294 KB. Click here for help with PDF files or here for a request for information in an alternate format.

History
Prenatal
Perinatal
Family history

Physical Examination
Assessment of gestational age
Growth parameters and measurements
Comprehensive examination

Differential Diagnosis
Single malformation
Multiple malformations due to syndrome
Multiple malformations, etiology unknown

Diagnostic Evaluation
Imaging
Chromosome analysis
Other genetic tests
Consideration of referral to specialist(s)
Working Diagnosis/Counseling the Family
Counseling Principles
Supportive Setting
Content

Patient record
Documentation of positive and negative findings
Diagnostic considerations
Issues discussed in counseling
Management plan

Ongoing care and case management
Written reports
Written materials for families
Ongoing care and referrals as indicated

Dealing with Uncertainty

Major Sources of Further Information

Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck, Third Edition. Oxford University Press, New York, 1990.

Jones KL. Smith’s Recognizable Patterns of Human Malformation, Fifth Edition. W.B. Saunders, Philadelphia, 1997.

McKusick VM. Mendelian Inheritance in Man, 11th Edition. Johns Hopkins University Press, Baltimore, 1994.

On-line Mendelian Inheritance in Man. <http://www3.ncbi.nlm.nih.gov/Omim/>

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Send questions or comments to: brcpg@health.state.ny.us
Revised: June 2000

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