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  1. Article ; Online: The live birth in a woman with resistant ovary syndrome after in vitro oocyte maturation and preimplantation genetic testing for aneuploidy.

    Kornilov, Nikolay Valerievich / Pavlova, Marina Nikolaevna / Yakovlev, Pavel Pavlovich

    Journal of assisted reproduction and genetics

    2021  Volume 38, Issue 6, Page(s) 1303–1309

    Abstract: We report the pregnancy and live birth achieved after in vitro maturation (IVM) of oocytes and PGT-A in a 23-year-old patient suffering from ovarian gonadotropin resistance. A woman with resistant ovary syndrome (ROS) had secondary amenorrhea, high FSH ... ...

    Abstract We report the pregnancy and live birth achieved after in vitro maturation (IVM) of oocytes and PGT-A in a 23-year-old patient suffering from ovarian gonadotropin resistance. A woman with resistant ovary syndrome (ROS) had secondary amenorrhea, high FSH levels (25.34 mIU/mL) and LH (29.6 mIU/mL), low estradiol levels (15.2 pg/mL), and high serum AMH levels (38.0 ng/mL), associated with an increased antral follicle count (AFC) of 45. Without gonadotropin priming and HCG trigger, ultrasound-guided transvaginal oocyte retrieval was performed. Aspiration of antral-stage follicles allowed the retrieval of 15 immature oocytes. After oocyte collection, immature oocytes were cultured in the IVM medium. Following IVM, six of them reached metaphase II stage. Resultant matured oocytes were fertilized by intracytoplasmic sperm injection (ICSI). Embryos obtained were cultured to the blastocyst stage. On day 5, three embryos reached blastocyst stage. Trophectoderm biopsy and PGT-A were performed on two better quality embryos on day 5 after fertilization. Two biopsied embryos were reported to be euploid. PGT-A was performed utilizing next-generation sequencing (NGS\MPS). One embryo was transferred in an artificial thaw cycle and resulted in a viable intrauterine pregnancy and live birth. Our experience indicates that there is no requirement for gonadotropin stimulation and use of b-hCG trigger prior to IVM in patients with ROS. The results suggest that oocytes obtained with IVM in patients with ROS are capable of meiotic and mitotic division, fertilization, and generation of euploid embryos. IVM appears to be a valuable approach in patients with ROS, allowing them to have genetically connected offspring.
    MeSH term(s) Adult ; Aneuploidy ; Female ; Fertilization in Vitro ; Humans ; In Vitro Oocyte Maturation Techniques ; Infertility, Female/genetics ; Infertility, Female/pathology ; Infertility, Female/therapy ; Live Birth/epidemiology ; Live Birth/genetics ; Oocyte Retrieval ; Oocytes/growth & development ; Oogenesis/genetics ; Ovarian Follicle/growth & development ; Ovarian Follicle/metabolism ; Pregnancy ; Pregnancy Rate ; Preimplantation Diagnosis/trends ; Primary Ovarian Insufficiency/genetics ; Primary Ovarian Insufficiency/pathology ; Primary Ovarian Insufficiency/therapy ; Sperm Injections, Intracytoplasmic
    Language English
    Publishing date 2021-01-26
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1112577-9
    ISSN 1573-7330 ; 1058-0468
    ISSN (online) 1573-7330
    ISSN 1058-0468
    DOI 10.1007/s10815-021-02085-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Book ; Online: Fission Neutrons

    Kornilov, Nikolay

    Experiments, Evaluation, Modeling and Open Problems

    2015  

    Abstract: Although the fission of heavy nuclei was discovered over 75 years ago, many problems and questions still remain to be addressed and answered. The reader will be presented with an old, but persistent problem of this field: The contradiction between Prompt ...

    Author's details by Nikolay Kornilov
    Abstract Although the fission of heavy nuclei was discovered over 75 years ago, many problems and questions still remain to be addressed and answered. The reader will be presented with an old, but persistent problem of this field: The contradiction between Prompt Fission Neutron (PFN) spectra measured with differential (microscopic) experiments and integral (macroscopic and benchmark) experiments (the Micro-Macro problem). The difference in average energy is rather small ~3% but it is stable and we cannot explain the difference due to experimental uncertainties. Can we measure the PFN spectrum with high accuracy? How may we compare results of different experiments to provide better accuracy? Are our traditional theoretical models correct? What can be done to solve the Micro-Macro problem in future? These questions are discussed in this monograph for the reader. The current work will be of interest to graduate students and researchers, particularly those working in nuclear and neutron physics
    Keywords Nuclear chemistry ; Physics
    Language English
    Size Online-Ressource (VI, 132 p. 85 illus., 35 illus. in color), online resource
    Publisher Springer International Publishing
    Publishing place Cham ;s.l
    Document type Book ; Online
    Note Description based upon print version of record
    ISBN 9783319071329 ; 9783319071336 ; 3319071327 ; 3319071335
    DOI 10.1007/978-3-319-07133-6
    Database Former special subject collection: coastal and deep sea fishing

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  3. Book: Fission neutrons

    Kornilov, Nikolay

    experiments, evaluation, modeling and open problems

    2015  

    Author's details Nikolay Kornilov
    Language English
    Size VI, 132 p., graph. Darst
    Publisher Springer
    Publishing place Cham u.a.
    Document type Book
    Note Literaturangaben
    ISBN 9783319071329 ; 9783319071336 ; 3319071327 ; 3319071335
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  4. Book ; Online: Fission Neutrons

    Kornilov, Nikolay

    Experiments, Evaluation, Modeling and Open Problems

    2015  

    Abstract: Although the fission of heavy nuclei was discovered over 75 years ago, many problems and questions still remain to be addressed and answered. The reader will be presented with an old, but persistent problem of this field: The contradiction between Prompt ...

    Author's details by Nikolay Kornilov
    Abstract Although the fission of heavy nuclei was discovered over 75 years ago, many problems and questions still remain to be addressed and answered. The reader will be presented with an old, but persistent problem of this field: The contradiction between Prompt Fission Neutron (PFN) spectra measured with differential (microscopic) experiments and integral (macroscopic and benchmark) experiments (the Micro-Macro problem). The difference in average energy is rather small ~3% but it is stable and we cannot explain the difference due to experimental uncertainties. Can we measure the PFN spectrum with high accuracy? How may we compare results of different experiments to provide better accuracy? Are our traditional theoretical models correct? What can be done to solve the Micro-Macro problem in future? These questions are discussed in this monograph for the reader. The current work will be of interest to graduate students and researchers, particularly those working in nuclear and neutron physics
    Keywords Nuclear chemistry ; Physics
    Language English
    Size Online-Ressource (VI, 132 p. 85 illus., 35 illus. in color), online resource
    Publisher Springer International Publishing
    Publishing place Cham ;s.l
    Document type Book ; Online
    Note Description based upon print version of record
    ISBN 9783319071329 ; 9783319071336 ; 3319071327 ; 3319071335
    DOI 10.1007/978-3-319-07133-6
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  5. Article ; Online: Neonatal and clinical outcomes after transfer of a mosaic embryo identified by preimplantation genetic testing for aneuploidies.

    Yakovlev, Pavel / Vyatkina, Svetlana / Polyakov, Alex / Pavlova, Marina / Volkomorov, Victor / Yakovlev, Maksim / Filimonov, Sergey / Kazaryn, Liya / Aizikovich, Asia / Kornilov, Nikolay

    Reproductive biomedicine online

    2022  Volume 45, Issue 1, Page(s) 88–100

    Abstract: Research question: Do clinical and neonatal outcomes differ between mosaic embryo transfers (MET) and euploid embryo transfers (EET)?: Design: This retrospective cohort study compared the implantation rate, live birth rate (LBR) and miscarriage rate ... ...

    Abstract Research question: Do clinical and neonatal outcomes differ between mosaic embryo transfers (MET) and euploid embryo transfers (EET)?
    Design: This retrospective cohort study compared the implantation rate, live birth rate (LBR) and miscarriage rate between 513 euploid embryos and 118 mosaic embryos (72 whole chromosome mosaic [WCM], 40 segmental mosaic and six complex mosaic). Blastocysts were analysed using preimplantation genetic testing for aneuploidies with next-generation sequencing, followed by a single vitrified-warmed embryo transfer. Trophectoderm biopsies were classified as mosaic if they had 20-80% abnormal cells.
    Results: Overall, EET resulted in a significantly higher implantation rate (47.0%) and LBR (40.7%) than MET (implantation rate 39.0%, P = 0.005; LBR 28.8%, P = 0.008) and WCM embryos (implantation rate 37.5%, P = 0.01; LBR 22.2%, P = 0.007) after covariate adjustment. Segmental mosaic embryos had an implantation rate (47.5%) and LBR (45.0%) comparable to those of euploid embryos. Mosaic embryos with a high percentage of aneuploid cells (≥60%) showed a significantly lower LBR (10.5% versus 40.7%, P = 0.03) than euploid embryos after covariate adjustment, with three of the five implantations of mosaic embryos resulting in miscarriage. Neonatal outcomes did not differ significantly between the mosaic and euploid groups. Of the 34 women with a live birth after MET, 13 had a prenatal or postnatal genetic testing result, and no abnormalities were found.
    Conclusions: Mosaic embryos were associated with a lower LBR, while segmental mosaic embryos had similar clinical outcomes to euploid embryos. Mosaic embryos with a high aneuploidy percentage (≥60%) should be assigned a low transfer priority. Neonatal outcomes did not differ significantly between the euploid and mosaic groups.
    MeSH term(s) Abortion, Spontaneous ; Aneuploidy ; Blastocyst/pathology ; Female ; Genetic Testing/methods ; Humans ; Infant, Newborn ; Mosaicism ; Pregnancy ; Preimplantation Diagnosis/methods ; Retrospective Studies
    Language English
    Publishing date 2022-01-31
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2113823-0
    ISSN 1472-6491 ; 1472-6483
    ISSN (online) 1472-6491
    ISSN 1472-6483
    DOI 10.1016/j.rbmo.2022.01.010
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  6. Article ; Online: Two clinical case reports of embryonic mosaicism identified with PGT-A persisting during pregnancy as true fetal mosaicism.

    Greco, Ermanno / Yakovlev, Pavel / Kornilov, Nikolay / Vyatkina, Svetlana / Bogdanova, Daria / Ermakova, Marina / Tarasova, Yulia / Tikhonov, Andrei / Pendina, Anna / Biricik, Anil / Sessa, Maria Teresa / Listorti, Ilaria / Ronsini, Carlo / Greco, Pier Francesco / Victor, Andrea / Barnes, Frank / Zouves, Christo / Spinella, Francesca / Viotti, Manuel

    Human reproduction (Oxford, England)

    2023  Volume 38, Issue 2, Page(s) 315–323

    Abstract: The health risks associated with transferring embryos classified as mosaic by preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such embryos produce PGT-A results indicating the presence of both euploid and aneuploid cells ... ...

    Abstract The health risks associated with transferring embryos classified as mosaic by preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Such embryos produce PGT-A results indicating the presence of both euploid and aneuploid cells and have historically been deselected from transfer and grouped with uniformly aneuploid embryos as 'abnormal'. In recent years, numerous groups have reported the intentional transfer of mosaic embryos in the absence of uniformly euploid embryos, largely observing births of seemingly healthy babies. However, it remains to be understood whether the embryonic mosaicism invariably becomes resolved during the ensuing pregnancy, or whether the placenta and/or fetal tissues retain aneuploid cells, and if so to what potential clinical effect. Here, we report two cases of mosaicism persisting from the embryonic stage to the established pregnancy. Case 1 involved an embryonic low-level segmental mosaic loss in Chromosome (Chr) 1, which was confirmed in amniocentesis as well as in brain tissue of the products of conception. This pregnancy was terminated due to the chromosomal pathologies associated with 1p36 deletion syndrome, such as severe intellectual disability. Case 2 involved a low-level mosaic Chr 21 trisomy, which was confirmed with chorionic villus sampling and amniocentesis. The ensuing pregnancy was terminated after ultrasound identification of severe abnormalities in the placenta and fetus. Together, these two cases should be taken into account for risk-benefit assessments of prospective mosaic embryo transfers.
    MeSH term(s) Pregnancy ; Female ; Humans ; Male ; Mosaicism ; Preimplantation Diagnosis/methods ; Prospective Studies ; Chromosomes, Human, Y ; Blastocyst/pathology ; Genetic Testing/methods ; Aneuploidy ; Fetus
    Language English
    Publishing date 2023-01-04
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 632776-x
    ISSN 1460-2350 ; 0268-1161 ; 1477-741X
    ISSN (online) 1460-2350
    ISSN 0268-1161 ; 1477-741X
    DOI 10.1093/humrep/deac263
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  7. Article ; Online: Chromosomal, gestational, and neonatal outcomes of embryos classified as a mosaic by preimplantation genetic testing for aneuploidy.

    Viotti, Manuel / Greco, Ermanno / Grifo, James A / Madjunkov, Mitko / Librach, Clifford / Cetinkaya, Murat / Kahraman, Semra / Yakovlev, Pavel / Kornilov, Nikolay / Corti, Laura / Biricik, Anil / Cheng, En-Hui / Su, Ching-Ya / Lee, Maw-Sheng / Bonifacio, Michael D / Cooper, Amber R / Griffin, Darren K / Tran, Diane Y / Kaur, Purvi /
    Barnes, Frank L / Zouves, Christo G / Victor, Andrea R / Besser, Andria G / Madjunkova, Svetlana / Spinella, Francesca

    Fertility and sterility

    2023  Volume 120, Issue 5, Page(s) 957–966

    Abstract: Objective: To understand the clinical risks associated with the transfer of embryos classified as a mosaic using preimplantation genetic testing for aneuploidy.: Design: Analysis of data collected between 2017 and 2023.: Setting: Multicenter.: ... ...

    Abstract Objective: To understand the clinical risks associated with the transfer of embryos classified as a mosaic using preimplantation genetic testing for aneuploidy.
    Design: Analysis of data collected between 2017 and 2023.
    Setting: Multicenter.
    Patients: Patients of infertility treatment.
    Intervention: Comparison of pregnancies resulting from embryos classified as euploid or mosaic using the 20%-80% interval in chromosomal intermediate copy numbers to define a mosaic result.
    Main outcome measures: Rates of spontaneous abortion, birth weight, length of gestation, incidence of birth defects, and chromosomal status during gestation.
    Results: Implanted euploid embryos had a significantly lower risk of spontaneous abortion compared with mosaic embryos (8.9% [n = 8,672; 95% confidence interval {CI95} 8.3, 9.5] vs. 22.2% [n = 914; CI95 19.6, 25.0]). Embryos with mosaicism affecting whole chromosomes (not segmental) had the highest risk of spontaneous abortion (27.6% [n = 395; CI95 23.2, 32.3]). Infants born from euploid, mosaic, and whole chromosome mosaic embryos had average birth weights and lengths of gestation that were not statistically different (3,118 g and 267 days [n = 488; CI95 3,067, 3,169, and 266, 268], 3052 g and 265 days [n = 488; CI95 2,993, 3,112, and 264,267], 3,159 g and 268 days [n = 194; CI95 3,070, 3,249, and 266,270], respectively). Out of 488 infants from mosaic embryo transfers (ETs), one had overt gross abnormalities as defined by the Centers for Disease Control and Prevention. Most prenatal tests performed on pregnancies from mosaic ETs had normal results, and only three pregnancies produced prenatal test results reflecting the mosaicism detected at the embryonic stage (3 out of 250, 1.2%; CI95 0.25, 3.5).
    Conclusion: Although embryos classified as mosaic experience higher rates of miscarriage than euploid embryos (with a particularly high frequency shortly after implantation), infants born of mosaic ETs are similar to infants of euploid ETs. Prenatal testing indicates that mosaicism resolves during most pregnancies, although this process is not perfectly efficient. In a small percentage of cases, the mosaicism persists through gestation. These findings can serve as risk-benefit considerations for mosaic ETs in the fertility clinic.
    MeSH term(s) Pregnancy ; Female ; Infant, Newborn ; Humans ; Abortion, Spontaneous/etiology ; Abortion, Spontaneous/genetics ; Preimplantation Diagnosis/methods ; Fertilization in Vitro/adverse effects ; Fertilization in Vitro/methods ; Blastocyst ; Genetic Testing/methods ; Aneuploidy ; Mosaicism ; Chromosomes
    Language English
    Publishing date 2023-07-31
    Publishing country United States
    Document type Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80133-1
    ISSN 1556-5653 ; 0015-0282
    ISSN (online) 1556-5653
    ISSN 0015-0282
    DOI 10.1016/j.fertnstert.2023.07.022
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