All women and men of reproductive age will achieve optimal health and wellness, fostering a healthy life course for them and any children they may have.Background
- Birth defects represent an abnormality of appearance, structure or function that are present at birth but may not be detected until later in life.
- Between 2-3% of live births have one or more significant abnormalities identifiable at birth; an additional 1-2% of live born infants will have a birth defect that is not identifiable at birth but diagnosed by age 1.
- Pregnancies which end in miscarriage and stillbirth have a higher rate of birth defects.
- Approximately 20% of birth defects are caused by genetic or hereditary factors.
Couples who are aware before they conceive of the risks for their offspring to have genetic abnormalities have more options available to them than those unaware of their risks until after entering into prenatal care. Options include:
- Adoption
- Surrogacy
- Use of donor sperm
- Preimplantation genetic diagnosis after in vitro fertilization
- Foregoing parenthood
- No primary care provider is expected to be aware of every genetic condition that could possibly affect a pregnancy. However, every provider should be able to:
- Ask the right questions;
- Know when to refer a woman/couple;
- Know where to refer a woman/couple.
- Ideally, every woman (and partner) will be assessed for family and genetic risks prior to a decision to become pregnant or putting themselves at risk for an unintended pregnancy.
- A screening genetic screen can be obtained during a woman’s routine care by asking several key questions:
- Do you, your partner, previous children or other relatives have a birth defect, genetic disease or learning disability?
- Are you or your partner of Eastern European Jewish ancestry? Of Caucasian, non-Hispanic ancestry? Of French-Canadian or Cajun ancestry? Of African, Mediterranean or Asian ancestry?
- Have you had two or more miscarriages?
- Have you or your partner had a previous pregnancy end because of a birth defect, genetic disease, or death before or after birth?
- Will you be 35 years old or older when you plan to give birth?
- Referral of women/couples to an online resource for collecting and organizing their family history may prove an efficient way to collect information. Two useful sites include:
- Does It Run in the Family? ”A Family Health History Tool from Genetic Alliance which can be accessed at www.familyhealthhistory.org .
- My family Health Portrait: A Tool from the Surgeon General which can be accessed at https://familyhistory.hhs.gov/.
- Positive findings when screening for a significant genetic history include:
- A family history of a genetic condition, birth defect, or chromosomal disorder
- Two or more spontaneous abortions, a stillbirth or an infant death from a cause that could relate to genetic risks
- A child with a known inherited disorder, birth defect or intellectual disability
- A woman who plans to become pregnant at 35 years of age or older
- Increased risk of passing on a genetic disorder because of each member of the couple’s ethnic background
- People related by blood who want to [or may] have children together
- If at least one member of a couple has a family history of developmental delay, congenital anomalies or other known or suspected genetic conditions, the couple should be referred to a qualified health care provider for appropriate counseling and potential testing (Solomon, Jack & Feero, 2008).
- Those with other positive findings from the quick genetic history should receive education about the risks and/or offered a referral to a genetics specialist or counselor to further investigate the potential significance of the specific risk.
- Those with risk factors for autosomal recessive diseases linked to race and ethnicity should receive education about the specific conditions and the opportunities of carrier screening. Carrier testing can be offered in your facility or through referral to a genetics specialist or obstetrician/gynecologist for the following subpopulations:
- Non-Hispanic white individuals should be offered cystic fibrosis carrier screening
- Individuals of Eastern European Jewish descent (Ashkenazi Jews) should be offered screening for Tay-Sachs disease, Canavan disease, familial dysautonomia and cystic fibrosis; carrier screening is also available for mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome and Gaucher disease
- Individuals of African, Mediterranean and Southeast Asian heritage should be offered screening for thalassemias and sickle cell disease. (ref: ACOG Preconception Carrier Screening: FAQ 179).
- Carrier testing can have significant social, psychologic and economic consequences:
- If carrier testing will be done in your practice (rather than through referral):
- Before ordering, determine if such testing has already occurred perhaps in a prior pregnancy;
- Testing should only take place after the woman gives her consent and her consent has been documented.
- If carrier testing is positive:
- Arrange for partner to also be tested and for the implications of the results to be discussed; referral to a genetics specialist is often the most appropriate and efficient way to achieve this testing and counseling;
- Previously undetected genetic disorders may be uncovered that could impact the woman’s own health during pregnancy or beyond (e.g. sickle cell trait; thalassemia). Such findings should result in anticipatory counseling for the woman in advance of becoming pregnant; this may be most efficiently achieved through a preconception referral to an obstetrician-gynecologist.
- If carrier testing will be done in your practice (rather than through referral):
- Communicating risks is complex and can result in significant unwarranted anxiety and confusions about the degree of risk. Several communication tips have been put forward that may decrease the likelihood of miscommunication:
- Use the term “chance” instead of “risk”;
- Frame the “chance” in several different ways such as using both a percentage and a ratio (e.g. 25% or 1 in 4);
- Many people find natural numbers easier to understand than either percentages or ratios. An example of using natural numbers is, “If there were 100 people in a room who all had the same chance you have, 25 of them would develop the problem we are discussing”;
- Give the likelihood of not having the problem, too: “If there were 100 people in a room who all had the same chance you have, 25 of them would develop the problem we are discussing and 75 would not develop the problem”.
- Adapted from the National Coalition for Health Professional Education in Genetics (NCHPEG) http://www.nchpeg.org/index.php?option=com_content&view=article&id=58&Itemid=76
- An important consideration in referring for specialty genetic assessment and counseling is out-of-pocket costs of such services.
- Have your office staff and/or the woman/couple determine whether their insurer will pay for genetic testing or counseling prior to pregnancy.
- Written education or referral to reputable websites which provide education about specific risks and conditions should be given to the prospective mother for her reflection and for her to share with her partner if he is not in attendance at the visit (see Patient Resources).
- Identification of genetic risk factors before conception has many advantages which women/couples may be unfamiliar with.
- The risk of an offspring having a genetic disorder known to exist within the family is generally less than prospective parents imagined but many parents want to understand the risks more fully before they become pregnant.
- Couples who find the risks too great to enter into pregnancy should be advised that there are a number of options for achieving parenthood that may reduce the risks.
- Many women/couples may decide to forego exploring genetic risks for personal and religious reasons; they should be made to feel comfortable with that decision and encouraged, if they later change their minds, to return for follow-up.
- While the primary care provider is seldom an expert in genetics, it is important for the provider to be prepared to direct women/couples to reputable resources that will help them obtain desired information and counseling.
Clinical Guidance
- Every woman/couple who is at risk for an unplanned pregnancy in the next year should be educated about the advantages of considering her family history and potential genetic risks before undertaking pregnancy.
- To uncover specific relevance for the woman, a quick genetic screen can be obtained during a her routine care by asking several key questions:
- Do you, your partner, previous children or other relatives have a birth defect, genetic disease or learning disability?
- Are you or your partner of Eastern European Jewish ancestry? Of Caucasian, non-Hispanic ancestry? Of French-Canadian or Cajun ancestry? Of African, Mediterranean or Asian ancestry?
- Have you had two or more miscarriages?
- Have you or your partner had a previous pregnancy end because of a birth defect, genetic disease, or death before or after birth?
- Will you be 35 years old or older when you plan to give birth?
- The potential significance of any positive responses should be discussed with the woman/couple and follow-up offered (i.e. testing and/or referral—See Background).
- Encourage women who decline follow-up to contact your office if they change their minds.
- Direct patient to appropriate patient resources to learn more about the benefits of considering genetic history and risks prior to conception.
Clinical Tools
CDC: Preconception Clinical Care for Women: Personal History (Last updated 06/2013) http://www.cdc.gov/preconception/careforwomen/history.html
ACOG Opinion Report: Von Willebrand Disease (Last updated 12/2013)
https://www.acog.org/Resources_And_Publications/Committee_Opinions/Committee_on_Adolescent_Health_Care/Von_Willebrand_Disease_in_Women
ACOG Opinion Report: Update on Carrier Screening on Cystic Fibrosis (Last updated 4/2011)
http://www.acog.org/~/media/Committee%20Opinions/Committee%20on%20Genetics/co486.pdf?dmc=1&ts=20130530T1618224471
ACOG Committee Opinion: Screening for Tay-Sachs Disease (Last updated 2010)
http://www.acog.org/~/media/Committee%20Opinions/Committee%20on%20Genetics/co318.pdf?dmc=1&ts=20130530T1623460975
Ashkenazi Jewish Screening Panel (Last updated 2008)
http://www.jewishgenetics.org/?q=content/ashkenazi-jewish-screening-panel-options
The American Society of Human Genetics: Family Health History Campaign (Last updated 2009)
http://www.talkhealthhistory.org
Patient Resources
Quest Diagnostics: Video for patients on Preconception and Prenatal Genetic Screening (Last updated 2013)
http://www.questdiagnostics.com/home/patients/tests-a-z/prenatal/before-conception/genetic-screen-video
Cystic Fibrosis Foundation: Genetic Carrier Screening (Last updated 04/2012) http://www.cff.org/AboutCF/Testing/Genetics/GeneticCarrierTest/
ACOG: Cystic Fibrosis FAQ for Patients on Cystic Fibrosis Screening (Last updated 08/2011)
http://www.acog.org/~/media/For%20Patients/faq171.pdf?dmc=1&ts=20130530T1617084295
National Tay-Sachs and Allied Diseases Website (Last updated 12/2011)
http://www.tay-sachs.org/
HHS: Family Health History Chart Creator for Patients (Last updated 01/2011)
https://familyhistory.hhs.gov/FHH/html/index.html
March of Dimes: Thinking about Your Family Health History (Last updated 11/2012)
http://centerforplainlanguage.org/wp-content/uploads/2012/05/march-of-dimes_family_health_history_booklet_and_form.pdf
The American Society of Human Genetics: Family Health History Campaign (Last updated 2009)
http://www.talkhealthhistory.org
References
American College of Obstetricians and Gynecologists (2011). Family history as a risk assessment tool. Committee Opinion No. 478. Obstetrics & Gynecology, 117(3), 747-50.
American College of Obstetricians and Gynecologists (2012). Preconception Carrier Screening. Frequently Asked Questions (FAQ) 179.
National Coalition for Health Professional Education in Genetics, Communicating Risk Fact Sheet, accessed 10-15-13 at:http://www.nchpeg.org/index.php?option=com_content&view=article&id=58&Itemid=76 .
Solomon BD, Jack BW, Feero WG. (2008). The clinical content of preconception care: Genetics and genomics. American Journal of Obstetrics and Gynecology. 199(6B), S340-S344.
