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Patient is (PIC)turing Pregnancy - Genetic History

Background

  • Scope: Birth defects represent an abnormality of appearance, structure or function of almost any part or parts of the body, that are present at birth but may not be detected until later in life. Defects can range from mild to very severe. Miscarriages and stillbirths have a higher rate of birth defects. Birth defects account for 20 percent of all infant deaths. About 20 percent of birth defects are caused by genetic or hereditary factors.

  • Risk Identification Strategies: Every provider should know when and where to refer the woman or couple based on their profile. To initiate a genetic screening through routine care ask these questions:

    • Do you, your partner, previous children or other relatives have a birth defect, genetic disease or learning disability?
    • Ask questions regarding ancestry and ethnicity of woman and partner.
    • 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?

 

Online resources for collecting family health history:
http://www.familyhealthhistory.org/

https://familyhistory.hhs.gov/

 

Ohio Genetic Services

http://www.odh.ohio.gov/odhprograms/cmh/genserv/genserv1.aspx

http://www.odh.ohio.gov/odhprograms/cmh/genserv/gen_pubs.aspx#Pediatric%20Genetic%20Services

 

Positive screenings for significant findings include:

A family history of genetic conditions, birth defects, or chromosomal disorders.

Two or more spontaneous abortions, stillbirth/infant death that could be from genetics.

A child with an inherited disorder, defect, or disability.

A woman planning on pregnancy 35+ of age.

Increased risk of genetic disorders because of each member of the couple’s ethnic background and family history.

People related by blood having children together.

  • Preconception Significance: Adopting healthy behaviors before pregnancy will significantly increase the ability to have a healthy baby. Woman should be aware of genetic abnormalities in family history, as well as in the father of the baby’s family history. If a couple is aware before conception and pregnancy, then they will have more options including: adoption, surrogacy, donor sperm use, preimplantation genetic diagnosis after in vitro fertilization, or foregoing pregnancy altogether.

    Clinician Guide

    Every woman considering pregnancy should be counseled on potential genetic risks. A screening can be done during routine medical visits by using the following questions:

    • Do you, your partner, previous children or other relatives have a birth defect, genetic disease or learning disability?
    • Ask questions regarding ancestry and ethnicity of woman and partner.
    • 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 of age or older when you plan to give birth?
  • If at least one member of the couple has a family history of developmental delay, congenital anomalies, and other genetic disorders, provider should refer couple to a specialized provider for counseling and testing. Others with positive findings from genetic history should be referred to a specialist as well for further information on significance of potential risk.

  • If a couple had risk factors for autosomal recessive disorders linked to race/ethnicity, they should receive education about carrier screening. Be sure to refer to appropriate screenings for individuals of different ethnic backgrounds.

  • Healthcare providers should always be prepared to refer women to resources for genetic counseling.

 

Page Reviewed: 4/19/2018