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.
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
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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
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