Prenatal Genetic Screening and Diagnostic Testing

ACOG Guidelines

Committee Opinion 640, Cell-free DNA (cfDNA) Screening for Fetal Aneuploidy; For more information

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

Committee Opinion 478, Family History as a Risk Assessment Tool

Technology Assessment 11, Genetics and Molecular Diagnostic Testing

Practice Bulletin 78, Hemoglobinopathies in Pregnancy

Committee Opinion 682, Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynecology

Practice Bulletin 162, Prenatal Diagnostic Testing for Genetic Disorders; For more information

Practice Bulletin 163, Screening for Fetal Aneuploidy; For more information

Patient Education

Cell-free DNA Prenatal Screening Test – This ACOG infographic for patients is available online for members and non-members.

Cystic Fibrosis: Prenatal Screening and Diagnosis – 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.

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

Genetic Disorders – 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 Diagnostic Tests – This Patient Education FAQ is available for members and non-members in English.

Prenatal Genetic Screening Tests – 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 in English and Spanish.

Prenatal Genetic Testing Chart Infographic – This Patient Education Infographic is available for members and non-members in English.

Routine Tests During Pregnancy – 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 in English and Spanish

You and Your Baby: Prenatal Care, Labor & Delivery, and Postpartum Care – This Patient Education Pamphlet is available in English (members only) and Spanish (members and non-members). This pamphlet is also available for purchase in English and Spanish.

Additional Resources

Discussing Down Syndrome: A Physician’s Guide – This guide from the National Down Syndrome Congress helps prepare physicians to discuss a Down syndrome diagnosis with patients.

Genetics Education Module – Developed by the Perinatal Quality Foundation, these modules include resources for OB providers to help explain prenatal testing to patients as well as for patients to make informed decisions regarding prenatal testing.

Genetics eModule – Developed by the American Society for Reproductive Medicine in collaboration with ACOG, this eModule covers a variety of genetics topics and allows participants to earn up to 7 AMA PRA Category 1 Credits™.

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: Prenatal Cell-free DNA Screening – This online module from the American Medical Association explains the benefits and limitations of prenatal cell-free DNA screening and offers .75 CME credits. The module includes a video overview of cell-free DNA, logistical considerations, and interactive case studies to help tailor genetic counseling to patient needs and concerns.

Prenatal Cell-free DNA Screening Webinar (Members Only) – ACOG, Society for Maternal-Fetal Medicine (SMFM), and National Society of Genetic Counselors (NSGC) presented a free webinar on August 19, 2015. The webinar provided an overview of prenatal cell-free DNA screening, including its accuracy and recommendations for use. ACOG members may log in to view the archived webinar

Sex Chromosome Conditions – This resource from Lettercase provides information on Turner Syndrome, Klinefelter Syndrome, and other prenatally diagnosed conditions.

Understanding a Down Syndrome Diagnosis – This booklet from Lettercase discusses common medical conditions for babies with Down syndrome, information about pregnancy options, and resources. This booklet is available online and in print in English and Spanish. This information is also available as a free web app in eight languages at understandingdownsyndrome.org

Understanding a Turner Syndrome Diagnosis – This free web app from Lettercase provides an overview of Turner syndrome from diagnosis and medical issues to support and resources. 

Questions?

Please contact clinical@acog.org.

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American Congress of Obstetricians and Gynecologists
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