Title

Noninvasive Prenatal Screening (NIPS) for Fetal Chromosome Abnormalities in A General-Risk Population

Authoring Organization

American College of Medical Genetics and Genomics

Publication Month/Year

December 16, 2022

Last Updated Month/Year

August 9, 2023

Supplemental Implementation Tools

Document Type

Guideline

Country of Publication

US

Document Objectives

This workgroup aimed to develop an evidence-based clinical practice guideline for the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for fetal trisomy 21, trisomy 18, or trisomy 13 and to evaluate the utility of NIPS for other chromosomal disorders.

Target Patient Population

Pregnant individuals in general risk categories for chromosomal disorders

Target Provider Population

Geneticists, OBGYNs and other allied providers

Inclusion Criteria

Female, Adolescent, Adult

Health Care Settings

Ambulatory, Laboratory services, Outpatient

Intended Users

Genetics, nurse, nurse practitioner, physician, physician assistant

Scope

Assessment and screening

Diseases/Conditions (MeSH)

D006580 - Genetic Carrier Screening, D000081182 - Noninvasive Prenatal Testing

Keywords

Down syndrome, NIPS, noninvasive prenatal screening, Cell-free DNA

Source Citation

Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022 Dec 13:S1098-3600(22)01004-8. doi: 10.1016/j.gim.2022.11.004. Epub ahead of print. PMID: 36524989.