Publications by authors named "Marine Poulain"

Purpose: To assess the value of having an onsite genetic counseling service integrated into an assisted reproductive technology (ART) center.

Methods: Since January 2021, we have offered genetic counseling at our ART center for couples whose medical history suggests risk of transmission of a genetic disorder. The percentage of couples referred for genetic counseling, the distribution of couples according to reasons for consultation, the mode of transmission in cases of Mendelian disorders, and the frequency of mutations for those with identified genetic disorders were determined.

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McCune-Albright syndrome (MAS) is a rare genetic disease affecting multiple organs, including endocrine tissues. This endocrinopathy is sometimes responsible for infertility, as it may induce an independent functioning of the ovaries leading to anovulatory cycles. This case report describes the infertility journey of a 22-year-old female who had early puberty and irregular periods with high estrogen and progesterone levels, low FSH and LH (on day 3 of her menstrual cycle), and a multi-cystic right ovary.

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Article Synopsis
  • Gene expression in meiotic cells in the testis involves high transcription activity and alternative splicing, governed by RNA-binding proteins crucial for fertility.
  • A frameshift mutation was found in the RBMXL2 gene of a man with azoospermia, which is linked to meiotic arrest.
  • The study confirmed loss of RBMXL2 protein in the patient's testis, indicating that the mutation disrupts spermatogenesis and leads to male infertility through altered gene expression.
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Absolute uterus factor infertility, whether congenital or acquired, renders the woman unable to carry a child. Although uterus transplantation (UTx) is being increasingly performed as a non-vital procedure to address this unfortunate condition, the immunosuppression required presents risks that are further compounded by pregnancy and during the puerperium period. These vulnerabilities require avoidance of SARS-CoV-2 infection in pregnant UTx recipients especially during the third trimester, as accumulating evidence reveals increased risks of morbidity and mortality.

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Research Question: What is the reliability of Geri® Assess 2.0 software time-lapse technology for annotating kinetic events and identifying abnormal phenotypes in preimplantation human embryos?

Design: Embryos were annotated using Assess 2.0 for the appearance and fading of pronuclei, and for progression to the 2-, 3-, 4-, 5- and 6-cell stages and to three blastocyst stages.

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Objective: Ovarian response indexes have been proposed in assisted reproductive technology (ART) in order to optimize live birth rates (LBR), adjusting ovarian stimulation (OS), and minimizing risks. Gonadotropin doses are commonly adjusted according to ovarian reserve parameters, including antral follicle count (AFC), anti-Mullerian hormone (AMH), and basal follicle stimulating hormone (FSH) levels. The retrospective assessment of ovarian responses allows one to identify three primary indexes: (i) follicular output rate (FORT), the ratio of the number of pre-ovulatory follicles obtained at OS completion over AFC; (ii) follicle oocyte index (FOI), the ratio of oocytes retrieved over AFC; (iii) ovarian sensitivity index (OSI), the ratio of oocytes retrieved over the total gonadotropin dose administered.

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Borderline ovarian tumors (BOT) represent about 10 to 20 percent of all epithelial tumors of the ovary. They constitute intermediate lesions between benign ovarian cysts and invasive carcinomas. They often occur in young women of reproductive age, and, albeit with a favorable prognosis, it may recur on the ipsilateral or contralateral ovary.

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To assess the relation between oocytes yield including total retrieved oocytes (O)c and total mature oocytes (MII) relative to the antral follicular count (AFC) (3-9 mm in diameter) and relative to anti-müllerian hormone (AMH) ng/mL level: Oc/AFC, MII/AFC, Oc/AMH, and MII/AMH, respectively, and ART outcomes. We included retrospectively 264 IVF cycles after the first embryo transfer (ET) and after the cumulative ET (CET). The implantation rate (IR) and the live birth rate (LBR) after first ET were 31 ± 39% and 32.

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Although there are large differences between horses and humans for reproductive anatomy, follicular dynamics, mono-ovulation, and embryo development kinetics until the blastocyst stage are similar. In contrast to humans, however, horses are seasonal animals and do not have a menstrual cycle. Moreover, horse implantation takes place 30 days later than in humans.

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Research Question: Is a symptom questionnaire as per the French IVF guidelines adequate for screening patients during the COVID-19 pandemic?

Design: Patients planning IVF from June 2020 to February 2021 were included in the study. In compliance with French IVF guidelines, all patients fever-free on the day of oocyte retrieval were screened for risk of COVID-19 by completing a symptom questionnaire after being counselled regarding the importance of a COVID-19-free medical practice. Patients with IVF planned between June and September 2020 only completed the questionnaire (group 1), while those planning IVF after September 2020 also underwent the RT-PCR test for SARS-CoV-2 RNA (group 2).

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Purpose: To identify the FSH receptor (FSHR) variant and efficacy of in vitro maturation (IVM) in a 28-year-old woman with secondary amenorrhea, primary infertility, and ovarian resistance to FSH, and to analyze the genotype-to-phenotype relationship in cases of FSHR mutation for the development of an IVM algorithm for use in patients with gonadotropin resistance syndrome (GRS).

Methods: Oocytes retrieved after menstruation induction with norethisterone, followed by daily estrogen and an ovulatory trigger, underwent IVM, ICSI, and culture in a time-lapse (TL) incubator. Embryo transfers were performed on day 2, and after thawing on day 5.

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Article Synopsis
  • Globozoospermia is a type of male infertility characterized by round-headed sperm that lack an acrosome, with genetic anomalies in the DPY19L2 gene accounting for 50-70% of cases, often due to complete gene deletions.* -
  • A study involving 69 patients found that 36% had homozygous deletions of the DPY19L2 gene, and even higher proportions of genetic defects correlated with increased rates of globozoospermia, indicating a strong relationship between genotype and phenotype.* -
  • The study suggests a new diagnostic approach focusing on patients with over 50% globozoospermia by initially testing for DPY19L2 deletions using
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Objective: To study the efficacy of combined administration of subcutaneous and vaginal progesterone for priming frozen blastocysts transfers, looking at progesterone levels and ART outcome.

Design: Retrospective study.

Setting Patients: Three hundred and twenty frozen blastocyst transfer cycles conducted in 213 women aged up to 42 years, BMI between 18 and 30 kg/m, with anatomically normal uterus who underwent frozen embryo transfers (FETs) from February 2019 to December 2019 with a combined luteal-phase support (LPS) associating subcutaneous and vaginal progesterone.

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Borderline ovarian tumors (BOTs) represent around 15% of all epithelial ovarian cancer. Around one third of those patients is under 40 and has not completed childbearing when the tumor is diagnosed. Cancer survivors are more and more concerned about their future fertility since a large proportion of those with BOTs are young.

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Like all industries, fertility clinics should identify and follow reference markers of its activity-key performance indicators (KPI)-to allow assisted reproductive technology outcomes to be monitored and compared. Clinical KPIs revolve around following set parameters of the patient population, procedures, and outcome data. Moreover, KPIs should also include identified protocols and standard operating procedures followed in daily practice and should keep track of multiple pregnancy rates, a ruthless confounder of assisted reproductive technology outcomes.

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Tetrasomy 9p (ORPHA: 3310) (i(9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies of the short arm of chromosome 9 and is usually present in a mosaic state postnatally. Depending on the level of mosaicism, the phenotype ranges from mild developmental delay to multiple congenital anomalies with severe intellectual disability.

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Article Synopsis
  • The study investigates whether there are differences in clinical pregnancy and live birth rates between Day 5 (D5) and Day 6 (D6) blastocyst transfers in both fresh and frozen conditions.
  • Results indicate that D5 blastocyst transfers yield significantly higher rates of clinical pregnancy and live births compared to D6 transfers.
  • The research is based on a systematic review and meta-analysis of 47 articles, ultimately integrating data from 29 studies, reflecting advancements in assisted reproductive technology and previous conflicting findings.
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Ovarian stimulation (OS) has for objective to induce multiple ovulation in order to yield a multiple oocyte harvest and offer multiple embryos available for transfer thereby increasing the efficacy of ART. Originally, the primary risk associated with OS was the occurrence of frank ovarian hyperstimulation syndrome (OHSS), a possibly dreadful-sometime fatal-complication of ART. These fears limited the number of oocytes aimed for during OS in order to curb the risk of OHSS.

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The development of assisted reproductive technology (ART) through four decades has led to offer the ultimate treatment for nearly all forms of infertility. The only remaining factor of childlessness however that still eludes ART and its routine variants are the absolute uterine infertility factors, for which the only option is an experimental approach, uterus transplantation. Progresses has been made over the past few years, and more are underway for simplifying the process notably for simplifying the uterus extraction step performed in the uterus donor.

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As in other specialties of medicine, there is more to clinical performance in reproductive endocrinology, infertility, and assisted reproductive technologies (REI-ART) than simply the individual knowledge and technical skills. Simulation is commonly used during fellowship training in REI-ART, aiming to produce a virtual cycle of professional development in order to improve patient outcome. With scientific certification and the joint development of evaluation tools, the contribution of digitalization, such as 3 D printing and digital simulators, will facilitate teamwork in REI-ART and enable a better transmission of knowledge in the specialty.

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Endometriosis - a disease causing pain and infertility - is encountered in nearly 50% of infertile women. While medical treatment is effective on pain and recurrence of symptoms after surgical excision, it is of no help for treating infertility for which the only options considered are surgery and ART. Surgery enhances the chances of conceiving naturally during the 12-18 ensuing months irrespective of the stage of the disease.

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