Publications used in this tool

1. 1
   Gregg AR, Aarabi M, Klugman S, et al. 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;23(10):1793-1806. doi:10.1038/s41436-021-01203-z

   ACMG tiers, Tier 3 gene list and maximum carrier frequencies, partner testing, reporting
2. 2
   Guha S, Reddi HV, Aarabi M, DiStefano M, Wakeling E, Dungan J, et al. Laboratory testing for preconception/prenatal carrier screening: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024;26(7):101137. doi:10.1016/j.gim.2024.101137

   Laboratory technical standard for carrier screening
3. 3
   American College of Obstetricians and Gynecologists' Committee on Genetics. Carrier screening in the age of genomic medicine. ACOG Committee Opinion No. 690. Obstet Gynecol. 2017;129(3):e35-e40.

   ACOG screening strategies, consent, timing, expanded panel criteria
4. 4
   American College of Obstetricians and Gynecologists' Committee on Genetics. Carrier screening for genetic conditions. ACOG Committee Opinion No. 691. Obstet Gynecol. 2017;129(3):e41-e55.

   ACOG condition-specific recommendations (CF, SMA, hemoglobinopathies, Ashkenazi Jewish panel, Tay-Sachs, fragile X)
5. 5
   Practice Committee of the American Society for Reproductive Medicine and Practice Committee for the Society for Assisted Reproductive Technology. Guidance regarding gamete and embryo donation. 2021. Available from: https://integration.asrm.org/practice-guidance/practice-committee-documents/guidance-regarding-gamete-and-embryo-donation-2021/

   Gamete donor screening
6. 6
   Kirk EP, et al. Nationwide, couple-based genetic carrier screening. N Engl J Med. 2024;391:1877-1889.

   Population couple-based screening outcomes (Mackenzie's Mission)
7. 7
   Tutty E, McClaren BJ, Lewis S, et al. Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening. Eur J Hum Genet. 2025;33(8):1035-1043. doi:10.1038/s41431-025-01903-z

   Reproductive choices after an increased-chance result
8. 8
   Wynn J, Hoskovec J, Carter RD, Ross MJ, Perni SC. Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting. Prenat Diagn. 2023;43(10):1344-1354. doi:10.1002/pd.6427

   Single-gene cell-free DNA after a maternal carrier result (emerging)
9. 9
   ARUP Consult. Spinal muscular atrophy: carrier testing interpretation. ARUP Laboratories. Available from: https://arupconsult.com/ati/spinal-muscular-atrophy

   SMA copy number interpretation and residual risk by ancestry
10. 10
    Lau SA, Fawaz RI, Rigobello R, Bawazeer S, Alajaji NM, Faqeih E, et al. CffDNA screening for Niemann-Pick disease, type C1: a case series. Front Med (Lausanne). 2024;11:1390693. doi:10.3389/fmed.2024.1390693

    Report of ACOG's statement on single-gene cell-free DNA (secondary source)