Genetics in Medicine (2023)25.100336GeneticsMedicineAn Official Journal of the ACMGELSEVIERwww.journals.elsevier.com/genetics-in-medicineACMG PRACTICE GUIDELINENoninvasive prenatal screening (NIPS)for fetalchromosome abnormalities in a general-riskpopulation:An evidence-based clinical guideline ofthe American College of Medical Genetics andGenomics (ACMG)Disclaimer:The ACMG has recruited expert panels,chosen for their scientific and clinical expertise,to develop evidence-based guidelines (EBG)forclinical practice.An EBG focuses on a specific scientific question and then describes recommendations intended to optimize patient care that are informedby a systematic review of evidence and an assessment of the benefits and harms of alternative care options.ACMG EBGs are provided primarily as aneducational resource for medical geneticists and otherclinicians to help them provide quality medical services.They should not be considered inclusive ofall relevant information on the topic reviewed.Reliance on this EBG is completely voluntary and does not necessarily ensure a successful medical outcome.In determining the propriety of any specificprocedure or test,the clinician should consider the best available evidence,and apply their own professional judgment,taking into account the needs,preferences and specific clinical circumstances presented by the individual patient.Clinicians are encouraged to document the reasons for the use of aparticular procedure or test,whether or not it is in conformance with this EBG.Clinicians are also advised to take notice of the date this EBG waspublished,and to consider other medical and scientific infommation that becomes available after that date.Where individual authors are listed,the viewsexpressed may not reflect those of authors'employers or affiliated institutions.Requests for permissions must be directed to the American College of Medical Genetics and Genomics,as rights holder.ARTICLE INFOABSTRACTArticle history:Purpose:This workgroup aimedto develop an evidence-based clinical practice guideline for the useReceived 2 November 2022of noninvasive prenatal screening(NIPS)for pregnantindividuals at general risk for fetal trisomy 21,Accepted 3 November 2022trisomy 18,or trisomy 13 and to evaluate the utility of NIPS for other chromosomal disorders.Available online 16 December 2022Methods:The NIPS Evidence-Based Guideline Work Group (n 7)relied on the results from therecent American College of Medical Genetics and Genomics (ACMG)systematic review to formKeywords:the evidentiary basis of this guideline.Workgroup members used the Grading ofCell-free DNARecommendations Assessment.Development.and Evaluation Evidence to Decision frameworkDown syndrometo draft recommendations.The guideline underwent extensive internal and external peer reviewNoninvasive prenatal screeningwith a public comment period before approval by the ACMG Board of Directors.Results:Evidence consistently demonstrated improved accuracy of NIPS compared withtr
