Carrier Screening

ACOG Guidelines

Committee Opinion 469, Carrier Screening for Fragile X Syndrome

Committee Opinion 409, Direct-to-Consumer Marketing of Genetic Testing

Joint Statement, Expanded Carrier Screening in Reproductive Medicine

Committee Opinion 478, Family History as a Risk Assessment Tool

Technology Assessment 11, Genetics and Molecular Diagnostic Testing

Committee Opinion 527, Personalized Genomic Testing for Disease Risk

Committee Opinion 442, Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent

Committee Opinion 318, Screening for Tay-Sachs Disease

Committee Opinion 432, Spinal Muscular Atrophy

Committee Opinion 486, Update on Carrier Screening for Cystic Fibrosis

Patient Education

Cystic Fibrosis: Prenatal Screening and Diagnosis – This Patient Education Pamphlet is available online for members in English (members only) and Spanish (members and non-members). This pamphlet is also available for purchase.

Diagnostic Tests for Birth Defects – This Patient Education FAQ is available for members and non-members in English. A Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members).

Genetic Disorders – This Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members). This pamphlet is also available for purchase.

Good Health Before Pregnancy: Preconception Care – This Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members) The pamphlet is also available for purchase.

Planning Your Pregnancy – This Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members). The pamphlet is also available for purchase

Preconception Carrier Screening – This Patient Education FAQ is available for members and non-members in English. A Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members). This pamphlet is also available for purchase.

Prenatal Genetic Screening Tests – This Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members only). This pamphlet is also available for purchase in English and Spanish.

Routine Tests During Pregnancy – This Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members). The pamphlet is also available for purchase in English and Spanish.

Additional Resources

JScreen – This nonprofit initiative, affiliated with Emory University, works to prevent Jewish genetic diseases through carrier screening and genetic counseling. Their site includes information about carrier screening and allows patients to request an at-home screening kit. The provider page includes resources such as ICD codes for prepregnancy carrier screening.

Norton & Elaine Sarnoff Center for Jewish Genetics – This website provides an overview of the genetics behind carrier screening and hereditary cancer and information on the increased risk of certain genetic conditions in the Jewish population. 

Ordering of Genetic Tests – This position statement, published by ACOG in November 2015, addresses providers’ ability to order genetic tests.

Precision Medicine for Your Practice: Expanded Carrier Screening - This online module from the American Medical Association explains the benefits, limitations, and how to interpret results of expanded carrier screening (ECS) and offers .5 CME credits. The module includes a video overview of ECS, logistical considerations, and interactive case studies to select which benefits and limitations of ECS are most relevant to a particular patient.

Spinal Muscular Atrophy Fact Sheet – This fact sheet by the National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) provides information on spinal muscular atrophy.

The Einstein Victor Center for the Prevention of Jewish Genetic Diseases – This site provides descriptions of the most common autosomal recessive Jewish genetic conditions and information specific to providers and consumers.

Questions?

Please contact clinical@acog.org.

American Congress of Obstetricians and Gynecologists
409 12th Street SW, Washington, DC  20024-2188 | Mailing Address: PO Box 70620, Washington, DC 20024-9998