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

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

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

Committee Opinion 581, The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Patient Education

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

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 Pamphlet is available in English (members only) and Spanish (members and non-members). This pamphlet is also available for purchase.

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.

Prenatal Genetic Screening Tests – 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.

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

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.

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