Screening for Autosomal Recessive and X-Linked Conditions During Pregnancy and Preconception

Authoring Organization

Publication Month/Year

July 20, 2021

Last Updated Month/Year

March 16, 2023

Document Type


Country of Publication


Inclusion Criteria

Female, Adolescent, Adult

Health Care Settings

Ambulatory, Outpatient

Intended Users

Genetics, medical techologist technician, nurse, nurse practitioner, physician, physician assistant


Diagnosis, Assessment and screening

Diseases/Conditions (MeSH)

D011296 - Prenatal Diagnosis, D000081182 - Noninvasive Prenatal Testing


prenatal diagnosis, prenatal screening

Source Citation

Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, Chen E, Sparks TN, Reddi HV, Rajkovic A, Dungan JS; ACMG Professional Practice and Guidelines Committee. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806. doi: 10.1038/s41436-021-01203-z. Epub 2021 Jul 20. Erratum in: Genet Med. 2021 Aug 27;: PMID: 34285390; PMCID: PMC8488021.


Number of Source Documents
Literature Search Start Date
September 22, 2020
Literature Search End Date
December 20, 2020