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Human Fertility
an international, multidisciplinary journal dedicated to furthering research and promoting good practice
Volume 26, 2023 - Issue 5
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Review Articles

Optimising the screening for haemoglobinopathies in pregnancy planning

Robert S. Nickela Division of Hematology, Children’s National Hospital, Washington, DC, USA;b Division of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA
,
Deepika S. Darbaria Division of Hematology, Children’s National Hospital, Washington, DC, USA;b Division of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA
,
Brenda Martina Division of Hematology, Children’s National Hospital, Washington, DC, USA
,
Lisa Thaniela Division of Hematology, Children’s National Hospital, Washington, DC, USA
,
Harvey Sternc Division of Reproductive Genetics, Genetics & IVF Institute, Fairfax, VA, USA
&
Cyril Jacquotb Division of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA;d Division of Pathology and Laboratory Medicine, Children’s National Hospital, Washington, DC, USA;e Department of Pathology, George Washington University School of Medicine and Health Sciences, Washington, DC, USACorrespondence[email protected]
Pages 1334-1339 | Received 16 Mar 2022, Accepted 04 Dec 2022, Published online: 21 Mar 2023

References

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  • Attia, M., Kripalani, S., Darbari, I., & Nickel, R. S. (2020). Parents of children with sickle cell disease are interested in preimplantation genetic testing. The Journal of Pediatrics, 223, 178–182.e2. https://doi.org/10.1016/j.jpeds.2020.04.027
  • Benson, J. M., & Therrell, B. L., Jr. (2010). History and current status of newborn screening for hemoglobinopathies. Seminars in Perinatology, 34(2), 134–144. https://doi.org/10.1053/j.semperi.2009.12.006
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  • Practice Committee of the American Society for Reproductive Medicine and the Practice Committee of the Society for Assisted Reproductive Technology. (2013). Recommendations for gamete and embryo donation: a committee opinion. Fertility and Sterility, 99(1), 47–62.e1. https://doi.org/10.1016/j.fertnstert.2012.09.037
  • Sabath, D. E. (2017). Molecular diagnosis of thalassemias and hemoglobinopathies: An ACLPS critical review. American Journal of Clinical Pathology, 148(1), 6–15. https://doi.org/10.1093/ajcp/aqx047
  • The American College of Obstetricians and Gynecologists. (2020). Committee opinion carrier screening for genetic testing. https://www.acog.org/clinical/clinical-guidance/committee-opinion/articles/2017/03/carrier-screening-for-genetic-conditions
  • Traeger-Synodinos, J., & Harteveld, C. L. (2017). Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: Challenges and future perspectives. Expert Review of Molecular Diagnostics, 17(3), 281–291. https://doi.org/10.1080/14737159.2017.1285701
  • Traeger-Synodinos, J., Harteveld, C. L., Old, J. M., Petrou, M., Galanello, R., Giordano, P., Angastioniotis, M., De la Salle, B., Henderson, S., & May, A. (2015). EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. European Journal of Human Genetics : EJHG, 23(4), 426–437. https://doi.org/10.1038/ejhg.2014.131
  • Williams, T. N., & Weatherall, D. J. (2012). World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harbor Perspectives in Medicine, 2(9), a011692. https://doi.org/10.1101/cshperspect.a011692

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