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

Authoring Organization

Publication Month/Year

December 16, 2022

Last Updated Month/Year

August 9, 2023

Supplemental Implementation Tools

Document Type


Country of Publication


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


Assessment and screening

Diseases/Conditions (MeSH)

D006580 - Genetic Carrier Screening, D000081182 - Noninvasive Prenatal Testing


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.