Modern view of preconception carrier screening

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Abstract

The article provides an overview current literature covering the issues of preconception carrier screening.

Hereditary diseases make a large contribution to disability, deterioration in quality of life and reduction in life expectancy, primarily among the child population. Treatment and rehabilitation of patients with hereditary diseases is accompanied by serious economic costs, as well as psychological and social problems. In many countries, preference for preventive measures over treatment measures is enshrined in law. Awareness of preconception carrier screening among non-genetic doctors and the general population is currently very low.

The development and introduction into practical healthcare of effective approaches to the prevention of hereditary diseases is of paramount importance in reproductive medicine. Conducting expanded carrier screening before pregnancy will allow for identifying in future parents the latent carriage of hereditary diseases responsible for infertility, miscarriage, infant or child mortality, and fetal development abnormalities, as well as formulating optimal tactics to prepare and introduce pregnancy, including the use of diagnostic and preventive measures.

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About the authors

Olga E. Talantova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: olga_talantova@mail.ru
ORCID iD: 0000-0003-3520-599X

MD, Cand. Sci. (Med.)

Saint Petersburg

Tatyana B. Postnikova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Author for correspondence.
Email: ptb20@mail.ru
ORCID iD: 0000-0002-8227-2629

MD

Russian Federation, Saint Petersburg

Anastasiia A. Mikhailova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: anamikhajlova@gmail.ru
ORCID iD: 0000-0002-5020-9561
Russian Federation, Saint Petersburg

Olesya N. Bespalova

The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: shiggerra@mail.ru
ORCID iD: 0000-0002-6542-5953

MD, Dr. Sci. (Med.)

Russian Federation, Saint Petersburg

References

  1. Henneman L, Borry P, Chokoshvili D, et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet. 2016;24(6):e1–e12. doi: 10.1038/ejhg.2015.271
  2. Frolova NI, Belokrinitskaya TE, Strambovskaya NN. Preconceptional molecular and genetic Screening of young healthy women on prediction of pregnancy complications. Izvestia of Samara Scientific Center of the Russian Academy of Sciences. 2014;16(5):1485–1487. EDN: TSCIVB
  3. Hogan GJ, Vysotskaia VS, Beauchamp KA, et al. Validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy number variant identification. Clin Chem. 2018;64(7):1063–1073. doi: 10.1373/clinchem.2018.286823
  4. Gregg AR, Edwards JG. Prenatal genetic carrier screening in the genomic age. Semin Perinatol. 2018;42(5):303–306. doi: 10.1053/j.semperi.2018.07.019
  5. Revazyan KZ, Meshkov AN, Ershova AI, et al. Genetic screening for heterozygous carriage of mutations that cause the development of monogenic recessive diseases. Profilakticheskaya Meditsina. 2020;23(6):111–117. EDN: MXQLKM doi: 10.17116/profmed202023062111
  6. Shubina Je, Pavlova NS, Donnikov AE, et al. Perspectives and limitations of whole exome based neonatal screening. Neonatologiya: novosti, mneniya, obuchenie. 2022;10(4):40–46. EDN: KGYJNG doi: 10.33029/2308-2402-2022-10-4-40-46
  7. Kashirskaya NYu, Petrova NV, Gembitskaya TE, et al. International experience in the primary prevention of cystic fibrosis (part two). Experimental and Clinical Gastroenterology. 2022;(8):160–170. EDN: GGKMLR doi: 10.31146/1682-8658-ecg-204-8-160-170
  8. Baranov VS, Kuznetzova TV. Novel options in prenatal genetic diagnostic. Journal of Obstetrics and Women’s Diseases. 2015;64(2):4–12. EDN: TTYWBJ doi: 10.17816/JOWD6424-12
  9. Holtkamp KC, Vos EM, Rigter T, et al. Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. BMC Health Serv Res. 2017;17(1):146. doi: 10.1186/s12913-017-2083-9
  10. Chen LS, Goodson P. Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: a theory-guided systematic review. Genet Med. 2007;9(7):442–450. doi: 10.1097/gim.0b013e3180986767
  11. Plantinga M, Birnie E, Abbott KM, et al. Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. Eur J Hum Genet. 2016;24(10):1417–1423. doi: 10.1038/ejhg.2016.43
  12. Ekstrand Ragnar M, Tydén T, Kihlbom U, et al. Swedish parents’ interest in preconception genetic carrier screening. Ups J Med Sci. 2016;121(4):289–294. doi: 10.1080/03009734.2016.1218575
  13. Holtkamp KC, van Maarle MC, Schouten MJ, et al. Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening? Eur J Hum Genet. 2016;24(2):171–177. doi: 10.1038/ejhg.2015.97
  14. Martynovich NN, Globenko NE, Kuznetsova SN. Clinical and laboratory markers of hereditary metabolic diseases in children of the first half of life. Acta Biomedica Scientifica. 2020;5(4):73–78. EDN: DDIRAR doi: 10.29413/ABS.2020-5.4.10
  15. Gao Z, Waggoner D, Stephens M, et al. An estimate of the average number of recessive lethal mutations carried by humans. Genetics. 2015;199(4):1243–1254. doi: 10.1534/genetics.114.173351
  16. Antonarakis SE. Carrier screening for recessive disorders. Nat Rev Genet. 2019;20(9):549–561. doi: 10.1038/s41576-019-0134-2
  17. Boardman FK, Young PJ, Griffiths FE. Population screening for spinal muscular atrophy: A mixed methods study of the views of affected families. Am J Med Genet A. 2017;173(2):421–434. doi: 10.1002/ajmg.a.38031
  18. Delatycki MB, Laing NG, Moore SJ, et al. Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners. Aust J Gen Pract. 2019;48(3):106–110. doi: 10.31128/AJGP-10-18-4725
  19. Haque IS, Lazarin GA, Kang HP, et al. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA. 2016;316(7):734–742. doi: 10.1001/jama.2016.11139
  20. Nijmeijer SCM, Conijn T, Lakeman P, et al. Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism. Mol Genet Metab. 2019;126(1):14–22. doi: 10.1016/j.ymgme.2018.12.004
  21. Zlotogora J. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet. 2009;126(2):247–253. doi: 10.1007/s00439-009-0669-y
  22. Kaback MM. Screening and prevention in Tay-Sachs disease: origins, update, and impact. Adv Genet. 2001;44:253–265. doi: 10.1016/s0065-2660(01)44084-3
  23. Zeevi DA, Chung WK, Levi C, et al. Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts. Mol Genet Genomic Med. 2021;9(8). doi: 10.1002/mgg3.1756
  24. Alhamdan NA, Almazrou YY, Alswaidi FM, et al. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genet Med. 2007;9(6):372–377. doi: 10.1097/gim.0b013e318065a9e8
  25. Muzzey D, Evans EA, Lieber C. Understanding the basics of NGS: From mechanism to variant calling. Curr Genet Med Rep. 2015;3(4):158–165. doi: 10.1007/s40142-015-0076-8
  26. Kulski JK. Next-generation sequencing — an overview of the history, tools, and “omic” applications. In: Kulski JK, editor. Next generation sequencing — advances, applications and challenges. 2016. P. 3–59. doi: 10.5772/61964
  27. Srinivasan BS, Evans EA, Flannick J, et al. A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online. 2010;21(4):537–551. doi: 10.1016/j.rbmo.2010.05.012

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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
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СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
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