More Information: For Committee Opinion #640—Cell-free DNA (cfDNA) Screening for Fetal Aneuploidy

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 #640 “Cell-free DNA Screening for Fetal Aneuploidy.” 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

NIPT/Cell Free DNA Screening Performance Calculator
The NIPT/Cell Free DNA Screening Performance Calculator, developed by the Perinatal Quality Foundation and the National Society of Genetic Counselors (NSGC) and endorsed by ACOG and the Society for Maternal-Fetal Medicine (SMFM), allows providers to estimate Positive Predictive Value (PPV) and Negative Predictive Value (NPV) of cell-free DNA screening (cfDNA) based on estimates of population prevalence or by entering individual prevalence numbers.  Helpful definitions, resources, and references are included.

“Free Webinar: Prenatal Cell-Free DNA Screening” (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.

“Prenatal Cell-Free DNA Screening: Q&A for Healthcare Providers” 
Issued by the National Society of Genetic Counselors (NSGC) and endorsed by ACOG and Society for Maternal-Fetal Medicine, the Q&A for Healthcare Providers answers frequently asked questions providers may have regarding the use and accuracy of cfDNA screening. Also included is a table of positive predictive values of cell-free DNA screening for different aneuploidies.

“Abnormal Prenatal Cell-Free DNA Screening Results: What Do They Mean?”
This set of frequently asked questions for providers, issued by the National Society of Genetic Counselors (NSGC) and endorsed by ACOG and Society for Maternal-Fetal Medicine, addresses abnormal screening results. The Abnormal Screening Results FAQ explains risk scores; how to discuss the results with patients; and how to conduct appropriate follow-up, including confirmatory diagnostic testing.

Resources for Women and Patients

"Cell-free DNA Prenatal Screening Test"
This ACOG infographic for patients describes cell-free DNA prenatal screening, including the difference between screening and diagnostic tests. It also explains how to understand results through interpreting predictive values.

“Prenatal Cell-Free DNA Screening” (PDF)
This set of frequently asked questions for patients, the National Society of Genetic Counselors (NSGC) and endorsed by ACOG and Society for Maternal-Fetal Medicine, addresses patient questions regarding cell-free DNA screening from the decision whether or not to undergo prenatal screening to dealing with abnormal results. NSGC’s Screening FAQ for Patients (PDF) summarizes the difference between screening and diagnostic testing as well as the common aneuploidies screened for and their outcomes.

“Understanding a Down Syndrome Diagnosis”
This booklet for patients (available as an ebook and in print) was developed by the National Center for Prenatal and Postnatal Down Syndrome Resources at the University of Kentucky. “Understanding a Down Syndrome Diagnosis” provides an overview of Down Syndrome diagnosis, infant development and related medical issues, pregnancy options, and additional resources.

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