HAC (Russian)
RSCI (Russian)
EBSCO
DOI (USA)
Ulrichsweb (Ulrich’s Periodicals Directory)
Scientific Indexing Services

Carriage of cystic fibrosis mutation through the prism of ART (the current state of the problem)

DOI: https://doi.org/10.29296/25877305-2018-11-05
Download full text PDF
Issue: 
11
Year: 
2018

Professor K. Krasnopolskaya(1), MD; I. Shuginin(1), MD; N. Sesina(3), E. Voskoboeva(2, 4); A. Beketova(1) 1-Moscow Regional Research Institute of Obstetrics and Gynecology, Moscow 2-Medical Genetic Research Center, Moscow 3-Semiya (Family) International Clinic, Moscow 4-Genlab Clinical and Diagnostic Laboratory of Human Reproduction, Moscow

Cystic fibrosis is one of the most common monogenic diseases in the European population. The paper considers the possibilities of current reproductive technologies to prevent the inheritance of the cystic fibrosis gene in the children of patients with different types of monogenic disease.

Keywords: 
genetics
obstetrics and gynecology
cystic fibrosis
preimplantation genetic testing
PGT-M



It appears your Web browser is not configured to display PDF files. Download adobe Acrobat или click here to download the PDF file.

References: 
  1. Amelina E.L., Krasovskij S.A., Shuginin I.O. Mukovistsidoz i beremennost': kliniko-geneticheskie, funktsional'nye i mikrobiologicheskie harakteristiki patsientok // Pediatrija. – 2014; 93 (4): 38–43.
  2. Bazanov P.A., Mitjushina N.G., Jutkin E.V. i dr. Optimizatsija vedenija patsientov pri vypolnenii preimplantatsionnoj geneticheskoj diagnostiki // Vestnik RUDN (Ser.: Meditsina). – 2013; 5: 97–102.
  3. Kistoznyj fibroz (mukovistsidoz) u detej. Klinicheskie rekomendatsii Ministerstva zdravoohranenija Rossijskoj Federatsii, 2016.
  4. Orlov A.V., Simonova O.I., Roslavtseva E.A. i dr. Mukovistsidoz (klinicheskaja kartina, diagnostika, lechenie, reabilitatsija, dispanserizatsija) / SPb: Izd-vo SZGMU im. I.I. Mechnikova, 2012.
  5. Rossijskaja assotsiatsija reproduktsii cheloveka. Registr VRT. 20-j jubilejnyj otchet za 2014 god / SPb, 2016. www.rarh.ru
  6. Registr bol'nyh mukovistsidozom v Rossijskoj Federatsii. 2014 g. / M.: ID «MEDPRAKTIKA-M», 2015; 64 s.
  7. Registr bol'nyh mukovistsidozom v Rossijskoj Federatsii. 2016 g. / M.: ID «MEDPRAKTIKA-M», 2018; 64 s.
  8. Choi J., Muallem D., Kiselyov K. et al. Aberrant CFTR-dependent HCO3 transport in mutations associated with cystic fibrosis // Nature. – 2001; 410: 94–7.
  9. Claustres M. Molecular pathology of the CFTR locus in male infertility // Reprod. Biomed. Online. – 2005; 10 (1): 14–41.
  10. de Souza D., Faucz F., Pereira-Ferrari L. et al. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling // Andrology. – 2018; 6 (1): 127–35. DOI: 10.1111/andr.12450.
  11. Denning C., Sommers S., Quigley H. Jr. Infertility in male patients with cystic fibrosis // Pediatrics. – 1968; 41 (1): 7–17.
  12. Dreesen J., Destouni A., Kourlaba G. et al. Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study // Eur. J. Hum. Genet. – 2014; 22 (8): 1012–8. DOI: 10.1038/ejhg.2013.277.
  13. Field P., Martin N. CFTR mutation screening in an assisted reproductive clinic // Aust N. Z. J. Obstet. Gynaecol. – 2011; 51 (6): 536–9. DOI: 10.1111/j.1479-828X.2011.01348.x.
  14. Girardet A., Ishmukhametova A., Willems M. et al. Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience // Clin. Genet. – 2015; 87 (2): 124–32. DOI: 10.1111/cge.12411.
  15. Handyside A., Lesko J., Tarin J. et al. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis // N. Engl. J. Med. – 1992; 327 (13): 905–9.
  16. Josserand R., Bey-Omar F., Rollet J. et al. Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens // Hum. Reprod. – 2001; 16 (10): 2093–7.
  17. Kaplan E., Shwachman H., Perlmutter A. et al. Reproductive failure in males with cystic fibrosis // N. Engl. J. Med. – 1968; 279: 65–9.
  18. Kuliev A., Verlinsky Y. Place of preimplantation diagnosis in genetic practice // Am. J. Med. Genet. – 2005; 134 (1): 105–10.
  19. Mastenbroek S., Twisk M., van Echten-Arends J. et al. In vitro fertilization with preimplantation genetic screening // N. Engl. J. Med. – 2007; 357: 9–17.
  20. Radpour R., Gourabi H., Dizaj A. et al. Genetic investigations of CFTR mutations in congenital absence of vas deferens, uterus, and vagina as a cause of infertility // J. Androl. – 2008; 29 (5): 506–13. DOI: 10.2164/jandrol.108.005074.
  21. Riordan J., Rommens J., Kerem B. et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA // Science. – 1989; 245 (4922): 1066–73.
  22. Rodgers H., Knox A., Toplis P. et al. Successful pregnancy and birth after IVF in a woman with cystic fibrosis // Hum. Reprod. – 2000; 15 (10): 2152–3.
  23. Schram C., Stephenson A., Hannam T. et al. Cystic fibrosis (cf) and ovarian reserve: A cross-sectional study examining serum anti-mullerian hormone (amh) in young women // Cyst. Fibros. – 2015; 14 (3): 398–402. DOI: 10.1016/j.jcf.2014.09.008.
  24. Thida Ong, Marshall S., Karczeski B. et al. Cystic Fibrosis and Congenital Absence of the Vas Deferens GeneReviews® [Internet]. Initial Posting: March 26, 2001; Last Update: February 2, 2017.
  25. Timmreck L., Gray M., Handelin B. et al. Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina // Am. J. Med. Genet. – 2003; 120 A(1): 72–6.
  26. Tur-Kaspa I., Aljadeff G., Rechitsky S. et al. PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis // Reprod. Biomed. Online. – 2010; 21 (2): 186–95. DOI: 10.1016/j.rbmo.2010.04.031.
  27. Uzun S., Gökçe S., Wagner K. Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens // Tohoku J. Exp. Med. – 2005; 207 (4): 279–85.
  28. van der Ven K., Messer L., van der Ven H. et al. Cystic fibrosis mutation screening in healthy men with reduced sperm quality // Hum. Reprod. – 1996; 11 (3): 513–7.
  29. Wang X., Zhou C., Shi Q. et al. Involvement of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm // Nat. Cell Biol. – 2003; 5: 902–6.
  30. Zegers-Hochschild F., Adamson G., Dyer S. et al. The International Glossary on Infertility and Fertility Care // Hum. Reprod. – 2017; 32 (9): 1786–801. DOI: 10.1093/humrep/dex234.
  31. Yu J., Chen Z., Ni Y. et al. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis // Hum. Reprod. – 2012; 27 (1): 25–35. DOI: 10.1093/humrep/der377.