Guideline:
Prenatal screening and diagnosis for pediatricians
Bibliographic Source(s)
- Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics 2004 Sep;114(3):889-94. [42 references] PubMed
Guideline Status
This is the current release of the guideline.
American Academy of Pediatrics (AAP) Policies are reviewed every 3 years by the authoring body at which time a recommendation is made that the policy be retired revised or reaffirmed without change. Until the Board of Directors approves a revision or reaffirmation or retires a statement the current policy remains in effect.
Guideline Category
Counseling
Intended Users
Physicians
Guideline Objective(s)
To update the pediatrician about indications for prenatal diagnosis current techniques used for prenatal diagnosis and the status of maternal screenings for detection of fetal abnormalities
Target Population
- Family members of a child with a birth defect or genetic disorder who may be a risk for recurrence of the same or similar problems in future offspring
- Families in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder
Interventions and Practices Considered
- Patient education and counseling by a pediatrician regarding current techniques used for prenatal diagnoses
- Referrals to appropriate specialists
Major Outcomes Considered
- Risk factors for fetal abnormalities
- Risks and benefits of diagnostic techniques
Methods Used to Collect/Select Evidence
Searches of Electronic Databases
Description of Methods used to Collect/Select the Evidence
Not stated
Number of Source Documents
Not stated
Methods Used to Assess the Quality and Strength of the Evidence
Not stated
Rating Scheme for the Strength of the Evidence
Not applicable
Methods Used to Analyze the Evidence
Review
Description of the Methods Used to Analyze the Evidence
Not stated
Methods Used to Formulate the Recommendations
Not stated
Rating Scheme for the Strength of the Recommendations
Not applicable
Cost Analysis
A formal cost analysis was not performed and published cost analyses were not reviewed.
Method of Guideline Validation
Peer Review
Description of Method of Guideline Validation
Not stated
Major Recommendations
Pediatricians may be called on to counsel a family in which prenatal diagnosis is being considered or in which there is a fetus with a genetic disorder. It is important that pediatricians involve themselves at a level appropriate to their training and experience that they clarify their role in the prenatal diagnostic process with the family and that they document their discussion and recommendations. In most circumstances pediatricians will not assume a primary role in performing prenatal diagnostic procedures or counseling the family about their risks and benefits. More frequently an obstetrician maternal-fetal medicine specialist clinical geneticist and/or a genetic counselor will direct the diagnostic evaluation and provide pretest and posttest counseling. Because of a previous relationship with the family the pediatrician may be called on to review this information and assist the family in the decision-making process. The pediatrician should be familiar with the principles of prenatal genetic diagnosis and know how to apply them to specific problems in genetic counseling diagnosis and management in clinical practice. Pediatricians should be familiar with resources available in their region for obtaining information about whether and how a specific disorder can be diagnosed and when and where to refer patients for prenatal genetic diagnosis. The technology of prenatal diagnosis is changing rapidly and genetic consultants can assist pediatricians in the appropriate use and interpretation of the diagnostic tests that are available.
Clinical Algorithm(s)
None provided
Type of Evidence supporting the Recommendations
The type of evidence supporting each recommendation is not specifically stated.
Potential Benefits
This guideline may improve pediatrician’s familiarity with indications for prenatal diagnosis current techniques used for prenatal diagnosis and the status of maternal screenings for detection of fetal abnormalities.
Potential Harms
Not stated
Qualifying Statements
The guidance in this report does not indicate an exclusive course of treatment or serve as a standard of medical care. Variations taking into account individual circumstances may be appropriate.
Description of Implementation Strategy
An implementation strategy was not provided.
IOM Care Need
Staying Healthy
IOM Domain
Effectiveness
Patient-centeredness
Bibliographic Source(s)
- Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics 2004 Sep;114(3):889-94. [42 references] PubMed
Adaptation
Not applicable: The guideline was not adapted from another source.
Source(s) of Funding
American Academy of Pediatrics
Guideline Committee
Committee on Genetics
Composition of Group that Authored the Guideline
Committee on Genetics 2003–2004: G. Bradley Schaefer MD (Chairperson); Marilyn J. Bull MD; Joseph H. Hersh MD; Celia I. Kaye MD PhD; Nancy J. Mendelsohn MD; John B. Moeschler MD; Howard M. Saal MD
Liaisons: James D. Goldberg MD American College of Obstetricians and Gynecologists; James W. Hanson MD National Institute of Child Health and Human Development/ American College of Medical Genetics; Michele A. Lloyd-Puryear MD PhD Health Resources and Services Administration; Cynthia A. Moore MD PhD Centers for Disease Control and Prevention
Staff: Paul Spire
Financial Disclosures/Conflicts of Interest
Not stated
Guideline Status
This is the current release of the guideline.
American Academy of Pediatrics (AAP) Policies are reviewed every 3 years by the authoring body at which time a recommendation is made that the policy be retired revised or reaffirmed without change. Until the Board of Directors approves a revision or reaffirmation or retires a statement the current policy remains in effect.
Guideline Availability
Electronic copies: Available from the American Academy of Pediatrics (AAP) Policy Web site.
Print copies: Available from American Academy of Pediatrics 141 Northwest Point Blvd. P.O. Box 927 Elk Grove Village IL 60009-0927.
Availability of Companion Documents
None available
Patient Resources
None available
NGC STATUS
This NGC summary was completed by ECRI on October 18 2004. The information was verified by the guideline developer on November 23 2004.
COPYRIGHT STATEMENT
This NGC summary is based on the original guideline which is subject to the guideline developer's copyright restrictions. Please contact the Permissions Editor American Academy of Pediatrics (AAP) 141 Northwest Point Blvd Elk Grove Village IL 60007.
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