This Guideline is designed primarily as an educational resource for health care providers to help them provide quality care to newborns with one or more congenital malformations. Adherence to this Guideline is completely voluntary and does not necessarily assure a successful outcome. The Guideline should not be considered inclusive of all proven treatments, procedures, and tests that are reasonably expected to obtain the same results. In determining the propriety of any specific treatment, procedure, or test, each clinician should apply his or her own professional judgment to the specific circumstances presented by the individual patient and family.

Health care providers are encouraged to document the reasons for the choice of a particular treatment, procedure, or test, whether or not it conforms to this Guideline. They also are advised to consider other medical and scientific information that becomes available after the adoption of this Guideline.

This Guideline was sponsored by the New York State Department of Health for initial distribution within New York State. For this reason, you will note reference to the New York State Genetic Services Directory and laboratories licensed by the New York State Department of Health to perform testing on specimens originating in New York State.

This Guideline was produced at a series of meetings during 1997 and 1998; final edits were made in May 1999.

The complete Guideline is available in Portable Document Format (PDF). Click here for help using PDF files. You must have the Adobe Reader software on your PC, or be using a web browser that has the software built in.

Requests for additional information, or materials in an alternate format, please call the New York State Department of Health's Genetic Services Program at (phone) 518-486-2215 or (fax) 518-473-1733.

Purpose

Guideline

Components of Evaluation and Care
Algorithm

Executive Summary

Statement of Purpose
Components of Evaluation and Care
     History
     Physical Examination
Initial Impression and Differential Diagnosis
Diagnostic Evaluation
Working Diagnosis
Counseling the Family
Patient Record
Longitudinal Care and Case Management
Dealing with Uncertainty
Further Recommendations and Conclusions
General References and Resources
On-Line Resources for Health Care Providers

Guideline Justification - (Available only as a PDf file - file size 826 KB)

Background
     Impact of Malformations
     Definitions
     Incidence and Prevalence of Malformations
     Etiology of Malformations
     Importance of Specific Diagnosis
     Descriptions of the Evaluation Process
     Historical Outcomes Data
     Recurrence Risk Assessment
     Intent of the Guideline
Components of Evaluation and Care
History
     Prenatal
     Perinatal
     Family
Physical Examination
     Growth Parameters
     General Appearance
     Detailed Examination
     Initial Impression and Differential Diagnosis
Diagnostic Evaluation
     Diagnostic imaging studies
     Chromosome analysis
     Other genetic tests
Working Diagnosis
Counseling the Family
Patient Record
Longitudinal Care and Case Management
Dealing with Uncertainty
Further Recommendations and Conclusions

Signatories - (Available only as a PDF file - file size 13 KB)
References - (Available only as a PDF file - file size 23 KB)
Appendices - (Available only as a PDF file - file size 13 MB)

Appendix 1: Glossary
Appendix 2: Selected Reference Charts for Newborns
Appendix 3: General Resources
     Books
     On-Line Resources
Appendix 4: New York State Genetic Services Directory
Appendix 5: State Genetics Coordinators
Appendix 6: Cytogenetics Laboratories
Appendix 7: Genetic Testing Laboratories
Appendix 8: Description of Participating Organizations
Appendix 9: Individuals Participating in the Guidelines Project