A5027536752- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Animal Genetics and Reproduction
- Assisted Reproductive Technology and Twin Pregnancy
- Uterine Myomas and Treatments
- Gynecological conditions and treatments
- Endometriosis Research and Treatment
- DNA Repair Mechanisms
- RNA modifications and cancer
- Genetic and phenotypic traits in livestock
- Fetal and Pediatric Neurological Disorders
- Telomeres, Telomerase, and Senescence
- Molecular Biology Techniques and Applications
- Birth, Development, and Health
- Ovarian cancer diagnosis and treatment
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- CNS Lymphoma Diagnosis and Treatment
- Ovarian function and disorders
- Agriculture and Biological Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Urological Disorders and Treatments
Research Institute of Obstetrics and Gynecology named after D.O. Ott
2013-2024
Saint Petersburg State Pediatric Medical University
2014-2024
S. M. Kirov Military Medical Academy
2014-2020
All-Russian Research Institute of Genetics and Farm Animal Breeding
1998
// Olga A. Efimova 1,2,* , Anna Pendina 1,2,3,* Andrei V. Tikhonov Sergey E. Parfenyev 2 Irina D. Mekina 1 Evgeniia M. Komarova Mariia Mazilina 1,2 Eugene Daev G. Chiryaeva 1,4,5 Ilona Galembo 3 Mikhail I. Krapivin Oleg S. Glotov Stepanova 6,7 Svetlana Shlykova 8 Igor Yu. Kogan Alexander Gzgzyan Tatyana Kuznetzova and Vladislav Baranov D.O. Ott Research Institute of Obstetrics, Gynecology Reproductology, St. Petersburg, Russia Petersburg State University, Center for Medical Genetics, 4...
We report the sequential changes in 5-hydroxymethylcytosine (5hmC) patterns genome of human preimplantation embryos during DNA methylation reprogramming. have studied chromosome hydroxymethylation and triploid zygotes blastomeres cleavage-stage embryos. Using indirect immunofluorescence, we analyzed localization 5hmC its co-distribution with 5-methylcytosine (5mC) on QFH-banded metaphase chromosomes. In zygotes, accumulates both parental sets, but is more intensive poorly methylated paternal...
Chromosomal abnormalities of the embryo are most common cause first-trimester pregnancy loss. In this single-center study, we assessed frequency and spectrum chromosomal in miscarriages for each year maternal age from 23 to 44. Cytogenetic data were obtained by conventional karyotyping 7118 women with naturally conceived pregnancies. identified 67.25% miscarriages. The total incidence increased aging; however, its average change a one-year increase differed between spans, equaling 0.704%...
We performed a comparative cytogenomic analysis of cultured and uncultured uterine leiomyoma (UL) samples. The experimental approach included karyotyping, aCGH, verification the detected chromosomal abnormalities by metaphase interphase FISH, MED12 mutation telomere measurement Q-FISH. An abnormal karyotype was in 12 out 32 UL In five karyotypically ULs, mutations were found. ULs present mostly complex rearrangements, including chromothripsis. both normal telomeres ~40% shorter than...
We report on the case of prenatal detection trisomy 2 in placental biopsy and further algorithm genetic counseling testing. A 29-year-old woman with first-trimester biochemical markers refused chorionic villus sampling preferred targeted non-invasive testing (NIPT), which showed low risk for aneuploidies 13, 18, 21, X. series ultrasound examinations revealed increased chorion thickness at 13/14 weeks gestation fetal growth retardation, a hyperechoic bowel, challenging visualization kidneys,...
The human lifespan is strongly influenced by telomere length (TL) which defined in a zygote—when two highly specialised haploid cells form new diploid organism. Although TL variable parameter, it fluctuates limited range. We aimed to establish the determining factors of chromosomes maternal and paternal origin triploid zygotes. Using Q-FISH, we examined metaphase 28 zygotes obtained from 22 couples. chromosomes’ parental was identified immunocytochemically through weak DNA methylation strong...
We report on the phenotype and reproductive history of an adult female patient with unbalanced karyotype: 8p23 18p11.3 terminal deletions 8p22 duplication. The indication for karyotyping 28-year-old was a structural rearrangement in her miscarriage specimen: 45,ХХ,der(8;18)t(8;18)(p23;p11.3). Unexpectedly, had same karyotype only one normal chromosome 8, 18, derivative chromosome, which product chromosomes 8 18 fusion loss their short arm regions. Fluorescence situ hybridization revealed...
In the present study, we aimed to check whether uterine leiomyomas (ULs) with an apparently normal karyotype in vitro comprise “hidden” cell subpopulations numerical chromosome abnormalities (heteroploid cells). A total of 32 ULs obtained from patients were analyzed study. Each UL was sampled for vivo and cytogenetic studies. Karyotyping performed on metaphase preparations cultured samples. revealed 20 out ULs, which 9 selected further study based good quality interphase preparations. Then,...
The present study investigates telomere length (TL) in dividing chorionic cytotrophoblast cells from karyotypically normal and abnormal first trimester miscarriages ongoing pregnancies. Using Q-FISH, we measured relative TLs the metaphase chromosomes of 61 villous samples. Relative did not differ between samples those pregnancies (p = 0.3739). However, among samples, were significantly higher than < 0.0001). also chorion ones 0.0018) contrast to miscarriages, where TL values 0.002). In...
Summary The nucleolus organizer regions were investigated by FISH with biotinylated rDNA probe and silver staining on chromosomes of the domestic horse (Equus caballus}. Ribosomal RNA loci mapped at secondary constrictions short arm chromosome 1 pericentromeric 27, 28 31. A new nucleolus-organizing 27 was identified. interindividual, interchromosomal polymorphism NORs described in 26 horses from 5 breeds. relative rRNA gene activity evaluated number silver-stained chromosomes, size deposits....
We studied the impact of age and serum anti-Müllerian hormone (AMH)/follicle-stimulating (FSH) levels on number cumulus-oocyte complexes (COCs) retrieved from female reciprocal Robertsonian translocation carriers after controlled ovarian hyperstimulation (COH). The COCs COH was retrospectively analyzed in 46,XX partners male 100 couples. median varied nine to 16 did not differ among subgroups women categorized by age, presence type a translocation. correlated negatively with woman's both...
The present paper summarizes results of cytogenetic study 679 chorionic samples from miscarriages following natural conception and assisted reproductive technologies. Frequency spectrum karyotype pathology its correlation with maternal age term gestation are analyzed. compared discussed relevant other studies
Синдром Фелан–МакДермид, или делеции 22q13, относится к редким (орфанным) генетическим заболеваниям из группы микроделеционных синдромов, обусловленных повреждением терминального сегмента длинного плеча хромосомы 22, клинически проявляющийся задержкой психомоторного развития, отсутствием выраженной речи, гипотонией, расстройством аутистического спектра, множественными микроаномалиями а также поражением других систем организма. В статье представлено описание двух клинических случаев синдрома...
Background: Incorrect epigenetic modifications of the human genome may result in disorders, thus, highlighting necessity studying chromosome patterns development. Aim study: A comparative analysis acetylated histone H3K9 (AcH3K9) metaphase chromosomes from lymphocytes adults and fetuses. Materials methods: The immunocytochemical detection AcH3K9 PHA-stimulated peripheral 13 cord blood 10 fetuses at 20-22 weeks gestation. Results: Both fetuses, accumulated R- T-, but not G-bands avoided...
BACKGROUND: It is common a wide range of reproductive disorders in couples with structural chromosome aberration one the partners, such as infertility, miscarriage, unsuccessful assisted technologies attempts. In this regard, predicting outcome particular couple an extremely difficult task. To solve it, it necessary to consider influence many factors, including type translocation and carriers sex.
 AIM: evaluate structure where partners was carrier, depending on its type: Robertsonian...
Preimplantation genetic diagnosis was first reported 20 years ago. During this time the range of possibilities assisted reproductive technology has expanded and possibility molecular single cells greatly increased. evolved from an experimental procedure to efficient form Prenatal Diagnosis, which broadened indications for Diagnosis can be applied at earliest stage. This review shows current state preimplantation describes its capabilities