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Guideline Summary
Guideline Title
Evaluation of prenatally diagnosed structural congenital anomalies.
Bibliographic Source(s)
Gagnon A, Wilson RD, Allen VM, Audibert F, Blight C, Brock JA, Desilets VA, Johnson JA, Langlois S, Murphy-Kaulbeck L, Wyatt P, Society of Obstetricians and Gynaecologists of Canada. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can. 2009 Sep;31(9):875-81. [37 references] PubMed External Web Site Policy
Guideline Status

This is the current release of the guideline.

Scope

Disease/Condition(s)

Fetal structural congenital anomalies that are prenatally diagnosed (isolated or multiple)

Guideline Category
Counseling
Diagnosis
Evaluation
Management
Clinical Specialty
Medical Genetics
Obstetrics and Gynecology
Pediatrics
Radiology
Intended Users
Advanced Practice Nurses
Allied Health Personnel
Health Care Providers
Nurses
Physician Assistants
Physicians
Guideline Objective(s)

To provide information to genetic counsellors, midwives, nurses, and physicians who are involved in the prenatal care of women dealing with prenatally diagnosed isolated or multiple structural congenital anomalies

Target Population

Pregnant women (and their families) who are dealing with prenatally diagnosed structural congenital anomalies

Interventions and Practices Considered
  1. Maternal and paternal family and medical history
  2. Maternal physical examination
  3. Fetal imaging (2-dimensional [2-D] ultrasound, fetal echocardiography, 3-dimensional [3-D] obstetrical ultrasound, ultrafast fetal magnetic resonance imaging [MRI], fetal X-ray, fetal computed tomography [CT] scan)
  4. Parental imaging
  5. Non-invasive testing (parental blood and genetic)
  6. Invasive testing (chorionic villus sampling, placental biopsy, amniocentesis, fetal blood sampling)
  7. Counselling
  8. Comprehensive newborn assessment
  9. Encouraging performance of a complete autopsy in cases of termination or pregnancy, stillbirth, or neonatal death
Major Outcomes Considered
  • Incidence of major or minor fetal structural anomalies
  • Detection rate of fetal anomalies using diagnostic imaging
  • False-positive rate
  • Stress
  • Termination of pregnancy, stillbirth, or neonatal death
  • Early or urgent delivery
  • Autopsy of fetus

Methodology

Methods Used to Collect/Select the Evidence
Hand-searches of Published Literature (Secondary Sources)
Searches of Electronic Databases
Searches of Patient Registry Data
Searches of Unpublished Data
Description of Methods Used to Collect/Select the Evidence

Published literature was retrieved through searches of PubMed or Medline, CINAHL, and the Cochrane Library for relevant articles using appropriate controlled vocabulary (e.g., structural congenital anomalies, prenatal ultrasound diagnosis of congenital anomalies, invasive testing results, and diagnosis of genetic syndromes; soft markers of aneuploidy were not included in this search) and key words. Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and material from between 1985 and 2008 incorporated in the guideline. Grey (unpublished) literature was identified through searching the web sites of health technology assessment and health technology assessment–related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.

Number of Source Documents

Not stated

Methods Used to Assess the Quality and Strength of the Evidence
Weighting According to a Rating Scheme (Scheme Given)
Rating Scheme for the Strength of the Evidence

Quality of Evidence Assessment*

I: Evidence obtained from at least one properly designed randomized controlled trial

II-1: Evidence from well-designed controlled trials without randomization

II-2: Evidence from well-designed cohort (prospective or retrospective) or case-control studies, preferably from more than one centre or research group

II-3: Evidence obtained from comparisons between times or places with or without the intervention. Dramatic results in uncontrolled experiments (such as the results of treatment with penicillin in the 1940s) could also be included in this category

III: Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees

*Adapted from the Evaluation of Evidence criteria described in the Canadian Task Force on Preventive Health Care.

Methods Used to Analyze the Evidence
Systematic Review
Description of the Methods Used to Analyze the Evidence

The evidence obtained was reviewed by the Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada (SOGC).

Methods Used to Formulate the Recommendations
Expert Consensus
Description of Methods Used to Formulate the Recommendations

Not stated

Rating Scheme for the Strength of the Recommendations

Classification of Recommendations

A. There is good evidence to recommend the clinical preventive action

B. There is fair evidence to recommend the clinical preventive action

C. The existing evidence is conflicting and does not allow to make a recommendation for or against use of the clinical preventive action; however, other factors may influence decision-making

D. There is fair evidence to recommend against the clinical preventive action

E. There is good evidence to recommend against the clinical preventive action

L. There is insufficient evidence (in quantity or quality) to make a recommendation; however, other factors may influence decision-making

†Adapted from the Classification of Recommendations criteria described in the Canadian Task Force on Preventive Health Care.

Cost Analysis

A formal cost analysis was not performed and published cost analyses were not reviewed.

Method of Guideline Validation
Internal Peer Review
Description of Method of Guideline Validation

This guideline was reviewed by the Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada (SOGC) and approved by the Executive of the SOGC.

Recommendations

Major Recommendations

The quality of evidence (I–III) and classification of recommendations (A–E, L) are defined at the end of the "Major Recommendations" field.

  1. When a fetal structural anomaly is identified, the pregnant woman should be offered a timely consultation with a trained genetic counsellor and with a maternal-fetal medicine specialist and/or a medical geneticist. The counselling should be unbiased and respectful of the patient's choice, culture, religion, and beliefs. (III-A)
  2. Patients should be informed that prenatal ultrasound at 18 to 20 weeks can detect major structural anomalies in approximately 60% of such cases. (II-2A)
  3. When a fetal structural anomaly is suspected or identified, a referral to a tertiary ultrasound unit should be made as soon as possible to optimize therapeutic options. (II-2A)
  4. In ongoing pregnancies with fetal structural anomalies, ultrasound examination should be repeated (at a frequency depending on the anomaly) to assess the evolution of the anomaly and attempt to detect other anomalies not previously identified, as this may influence the counselling as well as the obstetrical or perinatal management. (II-2B)
  5. Once a fetal structural anomaly is identified by 2-dimensional (2-D) ultrasound, other imaging techniques such as fetal echocardiography, 3-dimensional (3-D) obstetrical ultrasound, ultrafast fetal magnetic resonance imaging (MRI), and, occasionally, fetal X-ray and fetal computed tomography (CT) scan (using a low-dose protocol) may be helpful in specific cases. (II-2A)
  6. Parental imaging should be considered in specific cases, depending on the fetal anomaly identified (e.g., potential dominant inheritance). (III-A)
  7. Parental blood testing and invasive prenatal testing may also be required to clarify the diagnosis for a fetus with isolated or multiple structural anomalies. (II-2A)
  8. Women should receive information regarding the abnormal ultrasound findings in a clear, sympathetic, and timely fashion, and in a supportive environment that ensures privacy. Referral to the appropriate pediatric or surgical subspecialist(s) should be considered to provide the most accurate information possible concerning the anomaly or anomalies and the associated prognosis. (II-2 B)
  9. Parents should be informed that major or minor fetal structural anomalies, whether isolated or multiple, may be part of a genetic syndrome, sequence, or association, despite a normal fetal karyotype. (III-A)
  10. If early or urgent postnatal management may be required, delivery at a centre that can provide the appropriate neonatal care should be considered. (III-A)
  11. When any congenital structural anomaly has been identified prenatally, a comprehensive newborn assessment is essential for diagnosis and counselling on the etiology, prognosis, and recurrence risk for future pregnancies, especially when the etiology has not been clearly identified prenatally. (III-A)
  12. In cases of termination of pregnancy, stillbirth, or neonatal death, the health professional should encourage the performance of a complete autopsy by a perinatal or pediatric pathologist to provide maximum information on the diagnosis and etiology of the structural fetal anomaly or anomalies. When a complete autopsy is refused, the health professional should encourage the performance of at least a partial or external autopsy (including X-rays and photographs). (III-A)

Definitions:

Quality of Evidence Assessment*

I: Evidence obtained from at least one properly designed randomized controlled trial

II-1: Evidence from well-designed controlled trials without randomization

II-2: Evidence from well-designed cohort (prospective or retrospective) or case-control studies, preferably from more than one centre or research group

II-3: Evidence obtained from comparisons between times or places with or without the intervention. Dramatic results in uncontrolled experiments (such as the results of treatment with penicillin in the 1940s) could also be included in this category

III: Opinions of respected authorities, based on clinical experience, descriptive studies, or reports of expert committees

Classification of Recommendations

A. There is good evidence to recommend the clinical preventive action

B. There is fair evidence to recommend the clinical preventive action

C. The existing evidence is conflicting and does not allow to make a recommendation for or against use of the clinical preventive action; however, other factors may influence decision-making

D. There is fair evidence to recommend against the clinical preventive action

E. There is good evidence to recommend against the clinical preventive action

L. There is insufficient evidence (in quantity or quality) to make a recommendation; however, other factors may influence decision-making

*Adapted from the Evaluation of Evidence criteria described in the Canadian Task Force on Preventive Health Care.

†Adapted from the Classification of Recommendations criteria described in the Canadian Task Force on Preventive Health Care.

Clinical Algorithm(s)

None provided

Evidence Supporting the Recommendations

Type of Evidence Supporting the Recommendations

The type of supporting evidence is identified and graded for each recommendation (see "Major Recommendations").

Benefits/Harms of Implementing the Guideline Recommendations

Potential Benefits
  • Appropriate counselling for women and families who are dealing with the diagnosis of a fetal structural anomaly
  • Providing accurate information and relevant reproductive genetic counselling to women and families will allow them to make informed decisions.
  • Appropriate evaluation of prenatally diagnosed structural congenital anomalies
Potential Harms

Not stated

Qualifying Statements

Qualifying Statements

This document reflects emerging clinical and scientific advances on the date issued and is subject to change. The information should not be construed as dictating an exclusive course of treatment or procedure to be followed. Local institutions can dictate amendments to these opinions. They should be well documented if modified at the local level. None of these contents may be reproduced in any form without prior written permission of the Society of Obstetricians and Gynaecologists of Canada (SOGC).

Implementation of the Guideline

Description of Implementation Strategy

An implementation strategy was not provided.

Implementation Tools
Foreign Language Translations
For information about availability, see the Availability of Companion Documents and Patient Resources fields below.

Institute of Medicine (IOM) National Healthcare Quality Report Categories

IOM Care Need
Living with Illness
Staying Healthy
IOM Domain
Effectiveness
Patient-centeredness
Timeliness

Identifying Information and Availability

Bibliographic Source(s)
Gagnon A, Wilson RD, Allen VM, Audibert F, Blight C, Brock JA, Desilets VA, Johnson JA, Langlois S, Murphy-Kaulbeck L, Wyatt P, Society of Obstetricians and Gynaecologists of Canada. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can. 2009 Sep;31(9):875-81. [37 references] PubMed External Web Site Policy
Adaptation

Not applicable: The guideline was not adapted from another source.

Date Released
2009 Sep
Guideline Developer(s)
Society of Obstetricians and Gynaecologists of Canada - Medical Specialty Society
Source(s) of Funding

Society of Obstetricians and Gynaecologists of Canada

Guideline Committee

Genetics Committee

Composition of Group That Authored the Guideline

Principal Author: Alain Gagnon, MD, Vancouver BC

Genetics Committee: R. Douglas Wilson (Chair), MD, Calgary AB; Victoria M. Allen, MD, Halifax NS; François Audibert, MD, Montreal QC; Claire Blight, RN, Halifax NS; Jo-Ann Brock, MD, Halifax NS; Valerie A. Désilets, MD, Montreal QC; Alain Gagnon, MD, Vancouver BC; Jo-Ann Johnson, MD, Calgary AB; Sylvie Langlois, MD, Vancouver BC; Lynn Murphy-Kaulbeck, MD, Moncton NB; Philip Wyatt, MD, Toronto ON

Financial Disclosures/Conflicts of Interest

Disclosure statements have been received from all members of the committee.

Guideline Status

This is the current release of the guideline.

Guideline Availability

Electronic copies: Available in Portable Document Format (PDF) from the Society of Obstetricians and Gynaecologists of (SOGC) Web site External Web Site Policy. Also available in French from the SOGC Web site External Web Site Policy.

Print copies: Available from the Society of Obstetricians and Gynaecologists of Canada, La société des obstétriciens et gynécologues du Canada (SOGC) 780 Echo Drive Ottawa, ON K1S 5R7 (Canada); Phone: 1-800-561-2416

Availability of Companion Documents

None available

Patient Resources

None available

NGC Status

This NGC summary was completed by ECRI Institute on March 29, 2010. The information was verified by the guideline developer on April 29, 2010.

Copyright Statement

This NGC summary is based on the original guideline, which is subject to the guideline developer's copyright restrictions.

Disclaimer

NGC Disclaimer

The National Guideline Clearinghouse™ (NGC) does not develop, produce, approve, or endorse the guidelines represented on this site.

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