Taking a thorough family and genetic history is an important part of preconception care. It provides an opportunity to identify (and sometimes mitigate) underlying risks that could increase potential adverse outcomes for a mother or her fetus.
No provider is expected to be aware of every genetic condition that could possibly affect a pregnancy. However, every provider should:
- Ask the right questions
- Know when to refer a woman/couple
- Know who to refer to
Depending on genetic risk factors, consultation with a genetic professional may be needed. Some reasons to seek genetic counseling are:
- A family history of a genetic condition, birth defect, chromosomal disorder, or cancer
- Two or more pregnancy losses, a stillbirth, or a baby who died
- A child with a known inherited disorder, birth defect, or intellectual disability
- A woman who is pregnant or plans to become pregnant at 35 years or older
- Test results that suggest a genetic condition is present
- Increased risk of getting or passing on a genetic disorder because of one's ethnic background
- People related by blood who want to have children together
Genomics Medicine Services (GMS)
- The VA Genomics Medicine Services is a national specialty care services that offers routine genetic/genomic care and counseling for VA patients.
- In cooperation with the patient’s primary medical team, the GMS provides or facilitates genetic counseling and clinical testing as indicated, recommends management options based on results, and provides educational materials and resources for the Veteran and family members.
- GMS consults are obtained through interfacility (IFC) requests. Contact GMS at 800-613-4012, x2925 or your telehealth coordinator to see if your facility has GMS access.
When taking a family history, it is important to include the following assessments:
- Genetic diseases: including muscular dystrophy, hemophilia, cystic fibrosis, fragile X syndrome, congenital heart disease, phenylketonuria, dwarfism, sickle cell anemia, and Tay-Sachs disease.
- Multifactorial congenital malformations: such as spina bifida, anencephaly, cleft palate and cleft lip, hypospadias, and congenital heart disease.
- 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.
- Age: Establish risks associated with age (e.g., women under age 15 or over age 35 may carry increased biological risks).
- 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.
- Recommended counseling and testing for ALL women of reproductive age:
- Cystic fibrosis: offer screening (DNA test for CFTR gene) to all women of reproductive age if not previously tested. Document results for all patients.
- Screening for cystic fibrosis is most effective among non-Hispanic white and Askenazi Jewish populations.
For Special Populations click on Patient/Partner Ethnicity for more info