More Information: For Committee Opinion #643—Identification and Referral of Maternal Genetic Conditions in Pregnancy

The American College of Obstetricians and Gynecologists has identified the following resources that may be helpful for ob-gyns, other health care providers, and patients on topics related to Committee Opinion #643 “Identification and Referral of Maternal Genetic Conditions in Pregnancy.” These materials are for information purposes only and are not meant to be comprehensive. Referral to these resources does not imply ACOG’s endorsement of the organization, the organization’s website, or the content of the resource. The resources may change without notice.

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Resources for Ob-Gyns and Women’s Health Care Providers
Resources for Women and Patients

Resources for Ob-Gyns and Women’s Health Care Providers

Clinical Guidance
“Family History as a Risk Assessment Tool” (Committee Opinion #478)
This Committee Opinion examines the use of a family history evaluation as a screening tool for assessing inherited risk, and the importance of reviewing and updating this information regularly.

“Hemoglobinopathies in Pregnancy” (Practice Bulletin #78, Members Only)
ACOG members may log in to view this Practice Bulletin, which provides recommendations on screening patients for sickle cell disease and the thalassemias, identifies strategies for managing pregnant patients with hemoglobinopathies, and discusses fetal genetic testing for couples with increased risk of having an affected child.

“Inherited Thrombophilias in Pregnancy” (Practice Bulletin #138, Members Only)
ACOG members may log in to view this Practice Bulletin, which provides recommendations on screening patients for factor V Leiden mutation, prothrombin G20210A mutation, protein C deficiency, protein S deficiency, and antithrombin deficiency, and identifies strategies for managing patients with inherited thrombophilias during pregnancy and in the postpartum period.

“Management of Women With Phenylketonuria” (Committee Opinion #636)
This Committee Opinion examines how to best provide reproductive health care to women with the genetic disease phenylketonuria (PKU) during pregnancy and throughout the lifespan.

“The Importance of Preconception Care in the Continuum of Women's Health Care” (Committee Opinion #313)
This Committee Opinion explores how understanding family history and genetic risk, as well as management of existing medical conditions, can be incorporated into ob-gyn practice.

Patient Education Materials
Ob-gyns and other women’s health care providers may find the following pamphlets useful for educating their patients about topics related to genetic disorders. ACOG members can log in to view a sample copy of these pamphlets.

Resources for Women and Patients

“Diagnostic Tests for Birth Defects”
This Patient FAQ answers common patient questions about LARC, including how each method works, what risks are associated with IUDs and implants, and what to expect during IUD and implant insertion and removal.

“Good Health Before Pregnancy: Preconception Care”
This FAQ by ACOG answers common questions about achieving good health before beginning a pregnancy, which is especially important for women with genetic disorders.

“Preconception Carrier Screening”
This FAQ by ACOG answers common questions about preconception carrier screening, including the definition of a carrier and what testing results can show.

“Screening Tests for Birth Defects”
This FAQ by ACOG answers common questions about screening tests for birth defects and includes basic information about different types of birth defects including genetic disorders.

American Congress of Obstetricians and Gynecologists
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