Delivery of a healthy baby in a patient with reciprocal translocation and type 1 von Willebrand disease

Sugurova A.T., Shaikhlislamova E.F., Khusainova R.I., Fatkullina I.B., Levin V.A., Devyatova E.A.

1) Bashkir State Medical University, Ministry of Health of Russia, Ufa, Russia; 2) Republican Medical and Genetic Centre, Ufa, Russia; 3) Ornament Health AG, Lucerne, Switzerland; 4) Clinic of Assisted Reproductive Technologies "Test Tube Babies", LLC, Moscow, Russia

Background: The selection of high-quality embryos prior to transfer into the uterine cavity can increase live birth rates in in vitro fertilization (IVF) programs. In addition to routine morphological evaluation, the genetic status of the embryo is associated with the success of the infertility treatment using assisted reproductive technologies (ART). Preimplantation genetic testing (PGT) with the next-generation sequencing (NGS) helps to improve the procedure of selecting a high-quality embryo, and thus to increase the efficiency of IVF. In the presence of reciprocal translocation in one of the potential parents, the primary goal of preimplantation genetic testing for structural rearrangements (PGT-SR) is to avoid the birth of a child with a chromosomally unbalanced translocation product and to reduce the risk of miscarriage to the level that can be found in couples with a normal karyotype.
Case report: TThis article demonstrates a clinical example of a healthy child born to a patient with reciprocal translocation and type 1 von Willebrand disease. The rational tactics for treating a couple with this pathology included the preconception care and administration of myo-inositol 600 mg + alpha-lactalbumin + folic acid 200 mcg, one capsule twice a day, orally (Inofert Forte, Italfarmaco, Italy) to improve the quality of oocytes and embryos. Providing the IVF treatment with PGT-SR embryos and selective transfer of a healthy embryo made it possible to achieve the desired result and obtain an uncomplicated pregnancy and a healthy premature baby.
Conclusion: PGT technology can help people who are at high risk of having children with genetic diseases. PGT-SR of embryos can achieve high live birth rates in couples where one person is a carrier of a chromosomal rearrangement that increases the risk of pregnancy loss.

Authors’ contributions: Fatkullina I.B., Khusainova R.I. – developing the concept of the study; Sugurova A.T., Shaikhlislamova E.F. – collecting and processing the material; Shaikhlislamova E.F., Sugurova A.T., Levin V.A. – writing the text; Khusainova R.I., Devyatova E.A. – editing the article.
Conflicts of interest: Authors declare lack of the possible conflicts of interest.
Funding: The study was conducted without sponsorship.
Patient Consent for Publication: The patient signed informed consent for the publication of her data.
For citation: Sugurova A.T., Shaikhlislamova E.F., Khusainova R.I., Fatkullina I.B., Levin V.A., Devyatova E.A. Delivery of a healthy baby in a patient with reciprocal translocation and type 1 von Willebrand disease.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2025; (3): 206-212 (in Russian)
https://dx.doi.org/10.18565/aig.2025.47

Keywords

in vitro fertilization (IVF)
preimplantation genetic testing (PGT)
assisted reproductive technologies (ART)
miscarriage
myo-inositol
alpha-lactalbumin
embryo selection

References

  1. Российская Ассоциация Репродукции Человека. Регистр ВРТ. Отчет за 2022 год. Доступно по: https://www.rahr.ru/d_registr_otchet/RegistrVRT_2022.pdf (ссылка активна 13.02.2025). [Russian Association of Human Reproduction. ART register. 2022 report. Available at: https://www.rahr.ru/d_registr_otchet/RegistrVRT_2022.pdf (accessed 13.02.2025). (in Russian)].
  2. Глинкина Ж.И., Кулакова Е.В., Дмитриева Н.В., Мосесова Ю.Е., Губаева З.М., Гохберг Я.А. Преимплантационное тестирование эмбрионов методом высокопроизводительного секвенирования у супружеских пар с транслокациями в кариотипе. Доктор.Ру. 2020; 19(1): 25-9. [Glinkina Zh.I., Kulakova E.V., Dmitrieva N.V., Mosesova Yu.E., Gubaeva Z.M., Gohberg Y.A. Pre-implantation embryo testing using the next generation sequencing in couples with karyotype translocation. Doctor.Ru. 2020; 19(1): 25-9. (in Russian)]. https://dx.doi.org/10.31550/1727-2378-2020-19-1-25-29.
  3. Mayeur A., Ahdad N., Hesters L., Grynberg M., Romana S., Sonigo C., Frydman N. Does the prognosis after PGT for structural rearrangement differ between female and male translocation carriers? Reprod. Biomed. Online. 2020; 40(5): 684-92. https://dx.doi.org/10.1016/j.rbmo.2020.01.025.
  4. Олина А.А., Садыкова Г.К., Ширинкина Е.В. Особенности кариотипа пациенток с невынашиванием беременности. Пермский медицинский журнал. 2021;38(6): 43-51. [Olina A.A., Sadykova G.K., Shirinkina E.V. Features of the karyotype of patients with miscarriage. Perm Medical Journal. 2021; 38(6): 43-51. (in Russian)]. https://dx.doi.org/10.17816/pmj38643%51.
  5. Harris B.S., Bishop K.С., Kuller J.A., Alkilany S., Price T.M. Preimplantation genetic testing: a review of current modalities. F&S Reviews. 2021; 2(1): 43-56. https://dx.doi.org/10.1016/j.xfnr.2020.10.001.
  6. Пустотина О.А., Дикке Г.Б., Остроменский В.В. Роль инозитола в репродукции человека. Акушерство и гинекология. 2022; 2: 111-8. [Pustotina O.A., Dikke G.B., Ostromensky V.V. Inositol and human reproduction. Obstetrics and Gynecology. 2022; (2): 111-8 (in Russian)]. https://dx.doi.org/10.18565/aig.2022.2.111-118.
  7. Вартанян Э.В., Цатурова К.А., Девятов Е.А., Михайлюкова А.С., Левин В.А., Сагамонова К.Ю., Громенко Д.С., Овсянникова Т.В., Эрлихман Н.М., Колосова Е.А., Сафронова Е.В., Фотина О.В., Красновская Е.В., Пожарищенская Т.Г., Аутлева С.Р., Гзгзян А.М., Нуриев И.Р., Воропаева Е.Е., Пестова Т.И., Здановский В.М., Ким Н.А., Котельников А.Н., Сафронов О.В., Назаренко Т.А., Ионова Р.М. Подготовка к лечению бесплодия методом экстракорпорального оплодотворения при сниженном овариальном резерве. Акушерство и гинекология. 2019; 8: 134-42. [Vartanyan E.V., Tsaturova K.A., Devyatova E.A., Mikhailyukova A.S., Levin V.A., Sagamonova K.Yu., Gromenko D.S., Ovsyannikova T.V., Erlikhman N.M., Kolosova E.A., Safronova E.V., Fotina O.V., Krasnovskaya E.V., Pozharischenskaya T.G., Autleva S.R., Gzgzyan A.M., Nuriev I.R., Voropaeva E.E., Pestova T.I., Zdanovsky V.M., Kim N.A., Kotelnikov A.N., Safronov O.V., Nazarenko T.A., Ionova R.M. Preparation for the in vitro fertilization treatment of infertility in diminished ovarian reserve. Obstetrics and Gynecology. 2019; (8): 134-42 (in Russian)]. https://dx.doi.org/10.18565/aig.2019.8.134-142.
  8. Morgante G., Massaro M.G., Di Sabatino A., Cappelli V., De Leo V. Therapeutic approach for metabolic disorders and infertility in women with PCOS. Gynecol. Endocrinol. 2018; 34(1): 4-9. https://dx.doi.org/10.1080/09513590.2017.1370644.
  9. Alessandri G., Mancabelli L., Fontana F., Lepore E., Forte G., Burratti M. et al. Disclosing α-lactalbumin impact on the intestinal and vaginal microbiota of women suffering from polycystic ovary syndrome. Microb. Biotechnol. 2024; 17(10): e14540. https://dx.doi.org/10.1111/1751-7915.14540.
  10. Layman D.K., Lönnerdal B., Fernstrom J.D. Applications for α-lactalbumin in human nutrition. Nutr. Rev. 2018; 76(6): 444-60. https://dx.doi.org/10.1093/nutrit/nuy004..
  11. Приказ Министерства здравоохранения РФ от 31 июля 2020 г. № 803н «О порядке использования вспомогательных репродуктивных технологий, противопоказаниях и ограничениях к их применению» Доступно по: https://www.garant.ru/products/ipo/prime/doc/74676088/ (ссылка активна 13.02.2025) [Order of the Ministry of Health of the Russian Federation of July 31, 2020 No. 803n "On the procedure for using assisted reproductive technologies, contraindications and restrictions on their use". Available at: https://www.garant.ru/products/ipo/prime/doc/74676088/ (accessed 13.02.2025) (in Russian)].
  12. Timmerman D., Planchamp F., Bourne T., Landolfo C., du Bois A., Chiva L. et al. ESGO/ISUOG/IOTA/ESGE Consensus Statement on preoperative diagnosis of ovarian tumors. Ultrasound Obstet. Gynecol. 2021; 58(1): 148-68. https://dx.doi.org/10.1002/uog.23635.
  13. Van den Bosch T., Dueholm M., Leone F.P., Valentin L., Rasmussen C.K., Votino A. et al. Terms, definitions and measurements to describe sonographic features of myometrium and uterine masses: a consensus opinion from the Morphological Uterus Sonographic Assessment (MUSA) group. Ultrasound Obstet. Gynecol. 2015; 46(3): 284-98. https://dx.doi.org/10.1002/uog.14806.
  14. Leone F.P., Timmerman D., Bourne T., Valentin L., Epstein E., Goldstein S.R. et al. Terms, definitions and measurements to describe the sonographic features of the endometrium and intrauterine lesions: a consensus opinion from the International Endometrial Tumor Analysis (IETA) group. Ultrasound Obstet. Gynecol. 2010; 35(1): 103-12. https://dx.doi.org/10.1002/uog.7487.
  15. Munro M.G., Critchley H.O., Broder M.S., Fraser I.S.; FIGO Working Group on Menstrual Disorders. FIGO classification system (PALM-COEIN) for causes of abnormal uterine bleeding in nongravid women of reproductive age. Int. J. Gynaecol. Obstet. 2011; 113(1): 3-13. https://dx.doi.org/10.1016/j.ijgo.2010.11.011.
  16. Грандоне Э. Риск тромбозов и экстракорпоральное оплодотворение. Акушерство, гинекология и репродукция. 2022; 16(1): 90-5. [Grandone E. Thrombosis risk and in vitro fertilization. Obstetrics, Gynecology and Reproduction. 2022; 16(1): 90-5. (in Russian)]. https://dx.doi.org/10.17749/2313-7347/ob.gyn.rep.2022.286.
  17. Микович Д., Мельников А.П. Врожденные дефекты факторов свертывания крови и акушерские осложнения. Клиническая медицина. 2020; 98(11-12): 729-38. [Mikovich D., Melnikov A.P. Birth defects of blood clotting factors and obstetric complications. Clinical Medicine (Russian Journal). 2020; 98(11-12): 729-38. (in Russian)]. https://dx.doi.org/10.30629/0023-2149-2020-98-11-12-729-738.
  18. Gardner D.K., Schoolcraft W.B. Culture and transfer of human blastocysts. Curr. Opin. Obstet. Gynecol. 1999; 11(3): 307-11. https://dx.doi.org/10.1097/00001703-199906000-00013.
  19. Министерство здравоохранения Российской Федерации. Клинические рекомендации. Женское бесплодие. М.; 2024. 91 с. [Ministry of Health of the Russian Federation. Clinical guidelines. Female infertility. Moscow; 2024. 91 p. (in Russian)].
  20. Yuan P., Zheng L., Ou S., Zhao H., Li R., Luo H. et al. Evaluation of chromosomal abnormalities from preimplantation genetic testing to the reproductive outcomes: a comparison between three different structural rearrangements based on next-generation sequencing. J. Assist. Reprod. Genet. 2021; 38(3): 709-18. https://dx.doi.org/10.1007/s10815-020-02053-5.
  21. Zhai F., Wang Y., Li H., Wang Y., Zhu X., Kuo Y. et al. Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations. Reprod. Biomed. Online. 2022; 45(3): 473-80. https://dx.doi.org/10.1016/j.rbmo.2022.05.012.
  22. Greco E., Litwicka K., Minasi M.G., Cursio E., Greco P.F., Barillari P. Preimplantation genetic testing: where we are today. Int. J. Mol. Sci. 2020; 21(12): 4381. https://dx.doi.org/10.3390/ijms21124381.
  23. Harper J., Jackson E., Sermon K., Aitken R.J., Harbottle S., Mocanu E. et al. Hum. Reprod. 2017; 32(3): 485-91. https://dx.doi.org/10.1093/humrep/dex004.
  24. Глинкина Ж.И., Кулакова Е.В., Лебедева Е.Г., Кузьмичева В.С., Макарова Н.П. Лечение бесплодия методами экстракорпорального оплодотворения и преимплантационного генетического тестирования у женщины с кариотипом 46,XX,ins(13;4)(q34;p14p15.3),inv(4)(p14q12). Клинический случай. Гинекология. 2021; 23(5): 441-4. [Glinkina Zh. I., Kulakova E.V., Lebedeva E.G., Kuzmicheva V.S., Makarova N.P. In vitro fertilization and preimplantation genetic testing methods in infertility treatment of a woman with karyotype 46,XX,ins(13;4)(q34;p14p15.3),inv(4)(p14q12). Case report. Gynecology. 2021; 23(5): 441-4. (in Russian)]. https://dx.doi.org/10.26442/20795696.2021.5.201010.
  25. Midro A. T., Stengel‐Rutkowski S., Stene J. Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 1992; 41(3): 113-22. https://dx.doi.org/10.1111/j.1399-0004.1992.tb03646.x.
  26. Scriven P.N., Flinter F.A., Khalaf Y., Lashwood A., Mackie Ogilvie C. Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. Eur. J. Hum. Genet. 2013; 21(10): 1035-41. https://dx.doi.org/10.1038/ejhg.2013.9.
  27. Росюк Е.А., Городничева А.В., Меньшикова И.Л., Казанцев Ю.А., Шибаева А.Г. Генетические причины невынашивания беременности на ранних сроках у пациенток после вспомогательных репродуктивных технологий. Пермский медицинский журнал. 2022; 39(4): 33-40. [Rosyuk E.A., Gorodnicheva A.V., Menshikova I.L., Kazantsev Yu.A., Shibaeva A.G. Genetic causes of early miscarriage in patients after assisted reproductive technologies. Perm Medical Journal. 2022; 39(4): 33-40. (in Russian)]. https://dx.doi.org/10.17816/pmj39433-40.
  28. Franssen M.T., Korevaar J.C., van der Veen F., Leschot N.J., Bossuyt P.M., Goddijn M. Reproductive outcome after chromosome analysis in couples with two or more miscarriages: index [corrected]-control study. BMJ. 2006; 332(7544): 759-63. https://dx.doi.org/10.1136/bmj.38735.459144.2F.
  29. Абдильманова Б.Ж., Нигматова Н.П., Щиголев В.Н. Рождение генетически собственного ребенка у супружеской пары с наличием реципрокной транслокации у мужа в кариотипе. Репродуктивная медицина (Центральная Азия). 2022; 3(52): 81-6. [Abdilmanova B.Zh., Nigmatova N.P., Shchigolev V.N. Live birth of a genetically own child in a couple, where the male partner is diagnosed with reciprocal translocation. Reproductive Medicine (Central Asia). (in Russian)]. https://dx.doi.org/10.37800/RM.3.2022.81-86.
  30. Валиахметова Э.З., Кулакова Е.В., Скибина Ю.С., Грязнов А.Ю., Сысоева А.П., Макарова Н.П., Калинина Е.А. Неинвазивное тестирование преимплантационных эмбрионов человека in vitro как способ прогнозирования исходов программ экстракорпорального оплодотворения. Акушерство и гинекология. 2021; 5: 5-16. [Valiakhmetova E.Z., Kulakova E.V., Skibina Yu.S., Gryaznov A.Yu., Sysoeva A.P., Makarova N.P., Kalinina E.A. Non-invasive testing of human preimplantation embryos in vitro as a way to predict the outcomes of in vitro fertilization programs. Obstetrics and Gynecology. 2021; (5): 5-16. (in Russian)]. https://dx.doi.org/10.18565/aig.2021.5.5-16.

Received 27.02.2025

Accepted 19.03.2025

About the Authors

Alfiya T. Sugurova, PhD, Head of the Department of Assisted Reproductive Technologies, Republican Medical Genetic Center, 450076, Russia, Ufa, Gafuri str., 74,
https://orcid.org/0000-0003-0980-629X
Enzhe F. Shaikhlislamova, Resident at the Department of Obstetrics and Gynecology of the Institute of Continuing Professional Education, Bashkir State Medical University, Ministry of Health of Russia, 450008, Russia, Ufa, Lenin str., 3, berdigulova_enzhe@mail.ru, https://orcid.org/0000-0002-5111-0256
Rita I. Khusainova, Dr. Bio Sci., Professor at the Department of Medical Genetics and Fundamental Medicine of the Institute of Continuing Professional Education,
Bashkir State Medical University of the Ministry of Health of Russia, 450008, Russia, Ufa, Lenin str., 3, https://orcid.org/0000-0002-8643-850X
Irina B. Fatkullina, Dr. Med. Sci., Professor, Associate Professor at the Department of Obstetrics and Gynecology of the he Institute of Continuing Professional Education, Bashkir State Medical University, Ministry of Health of Russia, 450008, Russia, Ufa, Lenin str., 3, https://orcid.org/0000-0001-5723-2062
Vitaly A. Levin, Endocrinologist, Specialist in Health Management and Public Health, Ornament Health AG, Lucerne, Switzerland, https://orcid.org/0009-0000-8758-0842
Ekaterina A. Devyatova, PhD, Deputy Chief Physician, Doctor of Ultrasound Diagnostics, Obstetrician-Gynecologist, Clinic of Assisted Reproductive Technologies
«Test Tube Children», 123182, Russia, Moscow, Shchukinskaya str., 2, https://orcid.org/0000-0003-1533-1593
Corresponding author: Enzhe F. Shaikhlislamova, berdigulova_enzhe@mail.ru

Similar Articles

By continuing to use our site, you consent to the processing of cookies that ensure the proper functioning of the site.