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Preimplantation Genetic Diagnostics 

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  1. 07-05-2024 | Progestin | Online First

    The comparision among euploidy of preimplantation blastocysts in different controlled ovary stimulation (COH) protocols

    In recent years, assisted reproductive technology has helped many infertile couples achieve clinical pregnancies and live births. However, there are still some couples who have difficulty achieving successful outcomes, because of repeated …

  2. 02-05-2024 | Preimplantation Genetic Diagnostics | Online First

    Stringent criteria needed for germline genome editing of human IVF embryos

    Germline genome editing of IVF embryos is controversial because it is not directly health or lifesaving but is intended to prevent genetic diseases in yet-unborn future offspring. The following criteria are thus proposed for future clinical …

  3. Open Access 01-12-2024 | Fibrodysplasia Ossificans Progressiva | OriginalPaper

    Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report

    Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant condition that leads to significant disability and morbidity, characterised by the formation of heterotopic hard tissues within connective tissues [ 1 , 2 ]. The disorder is …

  4. Open Access 20-04-2024 | ICSI | Online First

    Leukocytospermia does not negatively impact outcomes in in vitro fertilization cycles with intracytoplasmic sperm injection and preimplantation genetic testing for aneuploidy: findings from 5435 cycles

    Leukocytospermia, defined as the presence of ≥ 1 × 10 6 white blood cells/mL of semen according to the 6th edition of the WHO Manual for the Laboratory Examination and Processing of Human Semen [ 1 ], is commonly identified in the semen analyses of …

  5. Open Access 20-04-2024 | Preimplantation Genetic Diagnostics | Online First

    Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing

    Increasing the live birth rate and decreasing the miscarriage rate through in vitro fertilisation (IVF) treatment is a critical focus of reproductive medicine, specifically in combination with advanced maternal age [ 1 ]. A study showed that in …

  6. Open Access 01-12-2024 | Preimplantation Genetic Diagnostics | OriginalPaper

    Age-related increase in live-birth rates of first frozen thaw embryo versus first fresh transfer in initial assisted reproductive technology cycles without PGT

    The landscape of assisted reproductive technology (ART) has undergone a significant transformation over the last decade, marked by a substantiative rise in the prevalence of frozen-thawed embryo transfers (FET) in comparison to fresh embryo …

  7. Open Access 13-04-2024 | ICSI | Online First

    The utility of human two plus one small pronucleated zygotes (2.1PN) based on clinical outcomes and the focused ploidy analysis

    Human in vitro fertilization (IVF), either conventional IVF or intracytoplasmic sperm injection (ICSI), is performed after oocyte retrieval, followed by confirmation of fertilization by checking the number and shape of pronuclei (PN) and the …

  8. 05-04-2024 | Preimplantation Genetic Diagnostics | Online First

    PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases

    Spinocerebellar ataxia type 1 (SCA1) (OMIM 164400) is a late-onset autosomal dominant disease that belongs to a heterogeneous group of neurodegenerative hereditary diseases caused by the trinucleotide repeats expansion. SCA1 is caused by mutations …

  9. 20-02-2024 | Preimplantation Genetic Diagnostics | ReviewPaper

    Preimplantation genetic testing in the current era, a review

    The process of fertilizing human gametes outside of the body has revolutionized how we approach infertility. This breakthrough allowed embryos to be developed in vitro and then implanted in the mother’s uterus, resulting in live births. To date …

  10. 01-04-2024 | Preimplantation Genetic Diagnostics | Online First

    The impact of a second embryo biopsy for preimplantation genetic testing for monogenic diseases (PGT-M) with inconclusive results on pregnancy potential: results from a matched case–control study

    Preimplantation genetic testing for monogenic diseases (PGT-M) allows for genetic profiling of embryos prior to implantation in couples with hereditary genetic disorders, as part of the in vitro fertilization (IVF) process. According to the ESHRE …

  11. Open Access 21-03-2024 | Preimplantation Genetic Diagnostics | Online First

    Mapping ethical, legal, and social implications (ELSI) of preimplantation genetic testing (PGT)

    Genetic selection of human embryos has been raising questions concerning Ethical, Legal, and Social Implications (ELSI) long before Assisted Reproductive Technologies (ART) became medically feasible. These ELSI assessments are influenced by …

  12. Open Access 01-12-2024 | Hematoma | OriginalPaper

    The impact of first-trimester subchorionic hematomas on pregnancy outcomes after euploid embryo transfer: a retrospective cohort study

    Subchorionic hematoma (SCH) is one of the most common and recognizable abnormalities in first-trimester pregnancy and it is defined as fluid collection between the uterine wall and gestational sac observed through ultrasound scans [ 1 ]. The …

  13. 31-01-2024 | Preimplantation Genetic Diagnostics | OriginalPaper

    Correlation of self-reported racial background to euploidy status and live birth rates in assisted reproductive technology cycles

    In the ever-evolving landscape of assisted reproductive technology (ART), the quest for understanding predictors of in vitro fertilization (IVF) success is imperative for advancing our field. This pursuit becomes even more nuanced as a growing …

  14. 24-01-2024 | Preimplantation Genetic Diagnostics | OriginalPaper

    Extended application of PGT-M strategies for small pathogenic CNVs

    Chromosomal copy number variants (CNVs) are defined as a gain or loss of DNA compared with the reference human genome, ranging in size from a kilobase to several megabases or even an entire chromosome [ 1 ], whose clinical significance has been …

  15. 13-03-2024 | Preimplantation Genetic Diagnostics | Online First

    Live birth outcomes following single-step blastocyst warming technique – optimizing efficiency without impacting live birth rates

    Significant progress in in-vitro fertilization (IVF) has often originated from advancements in the embryology laboratory. Techniques such as cryopreservation and subsequent warming protocols have radically transformed the scope of IVF and the …

  16. 12-03-2024 | Preimplantation Genetic Diagnostics | Online First

    Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study

    Neurogenetic diseases are a group of diseases in which developing individuals have deficiencies in nervous system function due to changes in genetic material. Hereditary neurological diseases (HND) account for a significant proportion of pediatric …

  17. 12-03-2024 | Preimplantation Genetic Diagnostics | Online First

    Patient interest in and clinician reservations on polygenic embryo screening: a qualitative study of stakeholder perspectives

    Polygenic embryo screening (PES), also known as preimplantation genetic testing for polygenic diseases (PGT-P), differs from preimplantation genetic testing for aneuploidies (PGT-A) or monogenic conditions (PGT-M) in meaningful ways. While we …

  18. Open Access 07-03-2024 | Preimplantation Genetic Diagnostics | Online First

    Correction to: Optimizing non‑invasive preimplantation genetic testing: investigating culture conditions, sample collection, and IVF treatment for improved non‑invasive PGT‑A results

  19. Open Access 01-12-2024 | Preimplantation Genetic Diagnostics | OriginalPaper

    The reproductive potential of vitrified-warmed euploid embryos declines following repeated uterine transfers

    Recurrent implantation failure (RIF) is an ill-defined clinical entity and poorly understood diagnostic dilemma that lacks sound scientific basis [ 1 , 2 ]. It is characterized by the failure to achieve pregnancy defined by negative human chorionic …

  20. Open Access 01-12-2024 | Preimplantation Genetic Diagnostics | OriginalPaper

    Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?

    PGT is commonly used in artificial reproductive technology (ART) treatment [ 1 – 3 ]. It has been demonstrated that selecting euploid or no-gene defect embryos for implantation by PGT could decrease the chance of having a foetus with a chromosomal …

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