Genetic considerations for a woman's pre-conception evaluation

Guideline Developer(s)

Society of Obstetricians and Gynaecologists of Canada

Date Released

2011 Jan

Evidence Supporting the Recommendations

Type of Evidence Supporting the Recommendations

The type of evidence supporting the recommendations is not specifically stated.

Implementation of the Guideline

Description of Implementation Strategy

An implementation strategy was not provided.

Benefits/Harms of Implementing the Guideline Recommendations

Potential Benefits

The benefits for the patient and her family include understanding of possible genetic risk and enhanced pregnancy outcomes.

Potential Harms

The harms include increased anxiety or psychological stress associated with the possibility of identifying genetic risks.

Rating Scheme for the Strength of the Recommendations

Not applicable

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).


Methods Used to Collect/Select the Evidence

Searches of Electronic Databases
Searches of Unpublished Data

Description of Methods Used to Collect/Select the Evidence

PubMed or Medline and the Cochrane Database were searched in November 2009, using appropriate key words (preconception, genetic disease, maternal, family history, genetic health risk, genetic health surveillance, prenatal screening, prenatal diagnosis, birth defects, and teratogen). Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, and national and international medical specialty societies.

Number of Source Documents

Not stated

Methods Used to Assess the Quality and Strength of the Evidence

Expert Consensus (Committee)

Rating Scheme for the Strength of the Evidence

Not applicable

Methods Used to Analyze the Evidence


Description of the Methods Used to Analyze the Evidence

Not stated

Methods Used to Formulate the Recommendations

Expert Consensus

Description of Methods Used to Formulate the Recommendations

Not stated

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 committee opinion has been prepared and reviewed by the Genetics Committee, reviewed by the MD Advisory Committee and the Medico-Legal Committee and approved by the Executive of the Society of Obstetricians and Gynaecologists of Canada.

Identifying Information and Availability

Bibliographic Source(s)

Wilson RD, Audibert F, Brock JA, Cartier L, Desilets VA, Gagnon A, Johnson JA, Langlois S, Murphy-Kaulbeck L, Okun N, Pastuck M. Genetic considerations for a woman's pre-conception evaluation. J Obstet Gynaecol Can. 2011 Jan;33(1):57-64. [31 references] PubMed


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

Source(s) of Funding

Society of Obstetricians and Gynaecologists of Canada

Guideline Committee

Genetics Committee

Composition of Group That Authored the Guideline

Principal Author: R. Douglas Wilson, MD, Calgary AB

Genetics Committee Members: R. Douglas Wilson, MD (Chair), Calgary AB; François Audibert, MD, Montreal QC; Jo-Ann Brock, MD, Halifax NS; Lola Cartier, MSc, Montreal QC; 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; Nanette Okun, MD, Toronto ON; Melanie Pastuck, RN, Edmonton AB

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 (SOGC) of Canada Web site.

Print copies: Available from the Society of Obstetricians and Gynaecologists of Canada, La société des obstétriciens et gynécologues du Canada (SOGC) 780 promenade 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 April 6, 2011. The information was verified by the guideline developer on May 10, 2011.

Copyright Statement

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


  • Birth defects
  • Genetic and congenital anomalies
Guideline Category

Risk Assessment

Clinical Specialty

Family Practice
Internal Medicine
Medical Genetics
Obstetrics and Gynecology
Preventive Medicine

Intended Users

Advanced Practice Nurses
Allied Health Personnel
Health Care Providers
Physician Assistants

Guideline Objective(s)

To give health care providers information about the genetic information that can be used as part of health surveillance for women undergoing a pre-conception evaluation for genetic risk assessment and possible genetic screening or testing

Target Population

Women of reproductive age and their partners

Interventions and Practices Considered

Pre-conception evaluation for genetic risk assessment and possible genetic screening or testing

Major Outcomes Considered
  • Maternal, infant, and child health outcomes
  • Risk of genetic and congenital anomalies


Major Recommendations

Recommendations and Summary Statements

A review of the current literature does not provide enough information for this committee opinion to present evidence-based recommendations.


Pre-conception planning is important but may not always be possible because some pregnancies are unintended. The reproductive risks must be considered at all patient interactions because personal situations change, and new discoveries can affect family histories. Primary prevention of genetic and congenital anomalies is the goal in reducing perinatal morbidity and mortality and enhancing healthy families. Health care providers should always ask patients of reproductive age "Are you considering a pregnancy or could you possibly become pregnant?"

Table: Taking a Pre-Conception History for Assessment and Counselling

Genetic History

A thorough pre-conception history identifies couples who are genetically at risk. When women and their partners are informed of the risks of having a baby with birth defects or a genetic disorder prior to pregnancy, they are then able to determine their options regarding a pregnancy (including contraception, artificial insemination, adoption, prenatal invasive testing, or chance).

Family History

  • Construct three-generation pedigree.
  • Include assessment of genetic diseases, including muscular dystrophy, hemophilia, cystic fibrosis, fragile X syndrome, congenital heart disease, phenylketonuria, dwarfism, sickle cell anemia, and Tay-Sachs disease.
  • Include assessment of multifactorial congenital malformations, such as spina bifida, anencephaly, cleft palate and cleft lip, hypospadias, and congenital heart disease.
  • Include assessment of familial diseases with a major genetic component, such as developmental disability, premature atherosclerosis, diabetes mellitus, psychosis, epileptic disorders, hypertension, rheumatoid arthritis, deafness, and severe refractive disorders of the eye.

Ethnic History

  • Establish risk for specific conditions related to ethnic origin, such as sickle cell anemia, Tay-Sachs disease, neural tube defects, beta-thalassemia, and alpha-thalassemia.


  • Establish risks associated with age (e.g., women under age 15 or over age 35 may carry increased biological risks). 

Health History

Chronic Conditions

  • Assess the presence of chronic conditions that can affect a woman's ability to conceive, as well as the use of medications in treatment of chronic disease and their potential effect on pregnancy.
  • The following specific conditions should be considered: diabetes mellitus, anemias, thyroid disorders, gynaecological disorders, hyperphenylalaninemia, asthma, sexually transmitted infections, heart disease, hypertension, deep venous thrombosis, kidney disease, systemic lupus erythematosus, epilepsy, hemoglobinopathies, cancer, seizure disorders, tuberculosis, rheumatoid arthritis, and mental health/psychiatric disorders.

Infectious Conditions

  • Identify women who are rubella or varicella susceptible. If they are not actively attempting pregnancy, offer a vaccination.
  • Identify and counsel women at risk for hepatitis B. Routine pre-conception testing of all women with hepatitis B is not currently recommended.
  • Counsel women to avoid exposure to cat feces and raw and undercooked meats. Routine serologic testing for toxoplasmosis in the pre-conception period is not recommended.
  • Evaluate the woman and her partner for exposure to sexually transmitted disease (e.g., Chlamydia, human immunodeficiency virus [HIV], gonorrhea, syphilis).

Reproductive History

  • Collect information about menstrual, contraceptive, and sexual histories; infertility; abnormal Pap smears; and in utero exposure to diethylstilbestrol.
  • Discuss past obstetric history, including early miscarriages; number of pregnancies; type of birth; length of labour; and specific complications, such as premature labour or delivery, gestational diabetes, pregnancy-induced hypertension, and postpartum depression.
  • Discuss menstrual difficulties, specifically excessive cyclic bleeding, amenorrhea, and oligomenorrhea.
  • Discuss gynaecological disease, such as endometriosis and pelvic inflammatory disease.

Lifestyle Assessment

  • Assess lifestyle issues, including nutrition; physical activity; prescription and over-the-counter drug use; other substance use; and environmental exposures, current and past.

Adapted from Public Health Agency of Canada. Family-centred maternity and newborn care: national guidelines. Chapter 3. Preconception care. Health Canada, 2005.

Clinical Algorithm(s)

None provided

Institute of Medicine (IOM) National Healthcare Quality Report Categories

IOM Care Need

Staying Healthy

IOM Domain



NGC Disclaimer

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

All guidelines summarized by NGC and hosted on our site are produced under the auspices of medical specialty societies, relevant professional associations, public or private organizations, other government agencies, health care organizations or plans, and similar entities.

Guidelines represented on the NGC Web site are submitted by guideline developers, and are screened solely to determine that they meet the NGC Inclusion Criteria which may be found at

NGC, AHRQ, and its contractor ECRI Institute make no warranties concerning the content or clinical efficacy or effectiveness of the clinical practice guidelines and related materials represented on this site. Moreover, the views and opinions of developers or authors of guidelines represented on this site do not necessarily state or reflect those of NGC, AHRQ, or its contractor ECRI Institute, and inclusion or hosting of guidelines in NGC may not be used for advertising or commercial endorsement purposes.

Readers with questions regarding guideline content are directed to contact the guideline developer.

To get started, log in or create your free account Create Account