References
- Antonarakis S. Carrier screening for recessive disorders. Nat Rev Genet. 2019;20(9):549–561.
- Baird PA, Anderson TW, Newcombe HB, et al. Genetic disorders in children and young adults: a population study. Am J Hum Genet. 1988;42:677.
- Ic V, Rd P. Global burden of genetic disease and the role of genetic screening. Semin Fetal Neonatal Med. 2015;20:354–363.
- The American College of Obstetricians and Gynecologists. Committee opinion no. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129:e41–e55.
- Giles Choates M, Stevens BK, Wagner C, et al. It takes two: uptake of carrier screening among male reproductive partners. Prenat Diagn. 2020;40(3):311–316.
- Martin JA, Hamilton BE, Osterman MJK, et al. Births: final data for 2018. Natl Vital Stat Rep. 2019;68(13):1–47.
- Carlotti K, Hines K, Weida J, et al. Perceived barriers to paternal expanded carrier screening following a positive maternal result: to screen or not to screen. J Genet Couns. 2021;30(2):470–477.
- Tsao DS, Silas S, Landry BP, et al. A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT. Sci Rep. 2019;9:1–14.
- Simone L, Khan S, Ciarlariello M, et al. Reproductive male partner testing when the female is identified to be a genetic disease carrier. Prenat Diagn. 2021;41(1):21–27.
- Shapiro AJ, Kroener L, Quinn MM. Expanded carrier screening for recessively inherited disorders: economic burden and factors in decision-making when one individual in a couple is identified as a carrier. J Assist Reprod Genet. 2021;38(4):957–963.
- Jurgensmeyer S, Walterman S, Wagner A, et al. Female and male perspectives on male partner roles in expanded carrier screening. J Assist Reprod Genet. 2021;38(2):375–385.
- Arjunan A, Torres R, Gardiner A, et al. Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples. Prenat Diagn. 2021;41(7):896–904.
- LabCorp. Cystic fibrosis DNA analysis; Sample Report 480533; 2016. Available from: https://files.labcorp.com/testmenu-d8/sample_reports/480533.pdf
- Kay DM, Stevens CF, Parker A, et al. Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy. Genet Med. 2020;22(8):1296–1302.
- Darrow JJ, Sharma M, Shroff M, et al. Efficacy and costs of spinal muscular atrophy drugs. Sci Transl Med. 2020;12(569):9648.
- Mackenzie T. In utero hematopoietic stem cell transplantation for alpha-thalassemia major (ATM). ClinicalTrials.gov; 2017. Available from: https://clinicaltrials.gov/ct2/show/NCT02986698
- Dever DP, Porteus MH. The changing landscape of gene editing in hematopoietic stem cells: a step towards Cas9 clinical translation. Curr Opin Hematol. 2017;24(6):481–488.
- Marktel S, Scaramuzza S, Cicalese MP, et al. Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia. Nat Med. 2019;25(2):234–241.
- Benn P, Curnow KJ, Chapman S, et al. An economic analysis of cell-free DNA non-invasive prenatal testing in the US general pregnancy population. PLOS One. 2015;10(7):e0132313.