Before, Between & Beyond Pregnancy

Women’s Health Matters.

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.
You are here: Home / Resource Guide for Clinicians / Desires Pregnancy / At Your Fingertips (Desires Pregnancy) / Genetic History

Genetic History

  • Birth defects represent an abnormality of appearance, structure or function that are present at birth (See What are Birth Defects? | CDC).
  • Most birth defects are detected within the 1st year of life, but they may be diagnosed before birth, at birth, or later in life.
  • Approximately 3% of all babies (1 in every 33) born in the US each year have one or more birth defects.
  • Some birth defects result in miscarriage, stillbirth, or early infant death while others are not life-limiting.
  • Birth defects can be caused by many factors including genetic or hereditary factors, many of which can be identified prior to conception with available screening.
  • Screening for genetic conditions before conception allows women and couples to better prepare for heritable genetic conditions that could potentially affect their offspring.
  • Genetic screening (which includes reviewing family and genetic history as well as offering genetic counseling and carrier screening as appropriate) is an important part of preconception care (See ACOG CO 691: Carrier Screening for Genetic Conditions, 2017).
  • Couples at high risk of having offspring with genetic abnormalities may use the information from preconception genetic counseling and carrier screening in a number of ways as they make reproductive decisions. Some couples choose:
    • To prepare for a child with special needs if pregnancy does occur
    • Adoption
    • Assisted reproductive technology +/- preimplantation genetic testing
    • Living without children
  • 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 becoming pregnant.
  • Referral of women/couples to an online resource for collecting and organizing their family history may prove an efficient way to collect information (See Patient Resources tab)
  • An initial, quick genetic screen can be obtained during a woman’s routine care by asking several key questions (See Clinical Guidance tab):
  • Red flags for increased risk of a genetic or chromosomal condition that could affect future pregnancy include (ACOG CO 478, reaffirmed 2020: Family history as a risk assessment tool):
    • A family history of a genetic condition, birth defect, or chromosomal disorder
    • Two or more spontaneous abortions, a stillbirth or an infant death related to a genetic cause
    • A child with a known inherited disorder, birth defect, developmental delay, or intellectual disability
    • A woman who plans to become pregnant at 35 years of age or older (See ACOG FAQs Having a Baby After Age 35: How Aging Affects Fertility and Pregnancy | ACOG, 2020)
    • 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
  • Ideally, carrier screening and counseling should be performed before pregnancy (ACOG CO 691, 2017: Carrier Screening for Genetic Conditions | ACOG).
  • Those with positive findings from the quick genetic history should receive education about the risks and/or offered referral to a genetic counselor
  • Certain ethnic groups are known to be at higher risk of specific genetic disorders due to the high rate of carriers in that population. Those with risk factors for autosomal recessive diseases linked to ethnicity should receive education about the specific conditions and the opportunities for carrier screening. Carrier testing can be offered in your facility or through referral to genetic counselor or obstetrician/gynecologist for the following subpopulations (ACOG CO 691, 2017: Carrier Screening for Genetic Conditions | ACOG):
    • Individuals of Caucasian, non-Hispanic ancestry are at higher risk of being cystic fibrosis carriers (See ACOG FAQ’s Cystic Fibrosis: Prenatal Screening and Diagnosis, 2020)
    • Individuals of Eastern European Jewish descent (Ashkanazi 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 French-Canadian or Cajun ancestry are at higher risk of being carriers for Tay-Sachs disease
    • Individuals of African, Mediterranean, Middle Eastern, West Indian, and Southeast Asian heritage should be offered screening for hemoglobinopathies, particularly sickle cell disease and thalassemias. (See ACOG FAQs Carrier Screening for Hemoglobinopathies: Sickle Cell Disease and Thalassemia | ACOG, 2020)
  • Carrier testing can have significant social, psychologic and economic consequences (See ACOG CO 693, 2017: Counseling About Genetic Testing and Communication of Genetic Test Results | ACOG)
    • The benefits, risks, and limitations of testing should be discussed prior to ordering any genetic tests
    • While all patients should be offered carrier testing, patients have the option to decline any or all testing
    • 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. Carrier testing for a particular condition only needs to be performed once
      • Testing should only take place after the woman gives her consent and her consent has been documented
  • Identification of genetic risk factors before conception has many advantages. The risk of an offspring having a genetic disorder can be helpful for women/ couples to understand before becoming pregnant.
  • Couples who find the risks too great to enter into pregnancy should be advised that there are other options for achieving parenthood they may wish to consider.
  • Many women/couples may decide to forego exploring genetic risks for personal or 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 to direct women/couples to genetic specialists and reputable resources that will help them obtain reliable information to make informed reproductive choices.

Taking a genetic history

  • Every woman/couple considering pregnancy in the next year should be queried about potential genetic risks. A quick genetic history 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?
  • Those with positive findings from the quick genetic history should receive education about the risks and/or offered a referral to a genetic counselor to further investigate the potential significance of the specific risk.

Carrier Screening Recommendations

  • If carrier testing is positive:
    • Recommend partner testing in order to provide informed counseling about potential reproductive outcomes. Referral to a genetic counselor 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). Consider preconception referral to an obstetrician-gynecologist or maternal-fetal medicine specialist

Communicating Risk

  • Communicating risks is complex and can result in significant unwarranted anxiety and confusions about the degree of risk. Here are some communication tips:
    • 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 and 75 would not develop the problem.”
  • An important consideration in referring for specialty genetic assessment and counseling is out-of-pocket costs of such services
    • Have your office staff or the woman/couple determine whether their insurer will pay for genetic testing or counseling prior to pregnancy.
  • Offer written education or referral to reputable websites which provide education about specific risks and conditions (see Patient Resources)

The American Society of Human Genetics: Talk Health History website provides tools and resources for talking to patients about and collecting their family history Healthcare Providers (talkhealthhistory.org) (Last updated 2/2022)

American College of Obstetricians and Gynecologists Committee Opinion 762, 2019 provides summary of carrier screening recommendations in Table 2: Prepregnancy Counseling | ACOG

UNC School of Medicine carrier screening recommendations with flowchart: Carrier-screening-recommendations-rev-11.2019-4.pdf (mombaby.org)

Cystic Fibrosis Foundation infographic depicting how CF is inherited: Carrier Testing for Cystic Fibrosis | Cystic Fibrosis Foundation (cff.org)

Ashkenazi Jewish Screening Panel
http://www.jewishgenetics.org/?q=content/ashkenazi-jewish-screening-panel-options (Last updated 2/2022)

ACOG: Carrier Screening FAQs (2020)
Carrier Screening | ACOG

CDC information on family history and planning a pregnancy Family Health History and Planning for Pregnancy | CDC

US Surgeon General’s recommended online tool for collecting your family history “My Family Health Portrait”

Does It Run in the Family? A Family Health History Tool from Genetic Alliance to create your own personalized booklet www.familyhealthhistory.org 

National Tay-Sachs and Allied Diseases Website
http://www.tay-sachs.org/

Cystic Fibrosis Foundation: Carrier Testing for Cystic Fibrosis | Cystic Fibrosis Foundation (cff.org)

ACOG FAQ’s (2020): Having a Baby After Age 35: How Aging Affects Fertility and Pregnancy | ACOG

American College of Obstetricians and Gynecologists (2011, Reaffirmed 2020). Committee Opinion No. 478: Family history as a risk assessment tool. Obstet Gynecol, 117(3), 747-50. Accessed February 18, 2022 from Family History as a Risk Assessment Tool | ACOG

American College of Obstetricians and Gynecologists (2017). Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol.129(3):e41-e55. doi:10.1097/AOG.0000000000001952

American College of Obstetricians and Gynecologists (2017). Committee Opinion No. 693: Counseling About Genetic Testing and Communication of Genetic Test Results. Obstet Gynecol. 129(4):e96. doi:10.1097/AOG.0000000000002020

American College of Obstetricians and Gynecologists (2019). Committee Opinion No. 762: Prepregnancy Counseling. Obstet Gynecol.133(1):e78-e89. doi:10.1097/AOG.0000000000003013

Background

[symple_toggle title="Scope of Problem" state="closed"]
  • 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.
[/symple_toggle][symple_toggle title="Preconception Significance" state="closed"]

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 parenthoodv
[/symple_toggle][symple_toggle title="Risk Identification Strategies" state="closed"]
  • 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.
  • An initial 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:
  • 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
[/symple_toggle][symple_toggle title="Risk Reduction Strategies" state="closed"]
  • 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 (Ashkanazi 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.
  • 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).
[/symple_toggle][symple_toggle title="Important Talking Points" state="closed"]
  • 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.
[/symple_toggle]

Clinical Guidance

  • Every woman/couple considering pregnancy in the next year should be queried about potential genetic risks. A quick 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?
  • 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 offered referral 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. Specific autosomal recessive diseases are linked to specific subpopulations. See Background section for screenings that may be appropriate for individuals of different races and ethnicities.
  • 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 (see Background and Patient Resources).

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.