Publications by authors named "Frydman N"

Seminal plasma (SP) is the main vector of C. trachomatis (CT) during heterosexual transmission from male to female. It has immunomodulatory properties and impacts the susceptibility to HIV-1 infection, but its role has not been explored during CT infection.

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Study Question: How do oocyte donors and recipients perceive the genetic link related to the transfer of nuclear DNA between donors and offspring?

Summary Answer: Whether they are donors or recipients, individuals attach great importance to the transmission of their genetic heritage, since 94.5% would opt for the pronuclear transfer method to preserve this genetic link in the context of oocyte donation.

What Is Known Already: Since 1983, the use of oocyte donation has increased worldwide.

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Objective: Blastocyst biopsy has recently been implemented in our laboratory for PGT with a "freeze all" indication. The aim of this study is to compare PGT results between embryos biopsied at the cleaved and embryos biopsied at the blastocyst stage.

Study Design: This is a retrospective cohort study conducted from January 2017 to December 2022 in France.

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Research Question: How do carriers of pathogenic mitochondrial DNA (mtDNA) respond to ovarian stimulation?

Design: A single-centre, retrospective study conducted between January 2006 and July 2021 in France. Ovarian reserve markers and ovarian stimulation cycle outcomes were compared for couples undergoing preimplantation genetic testing (PGT) for maternally inherited mtDNA disease (n = 18) (mtDNA-PGT group) with a matched-control group of patients undergoing PGT for male indications (n = 96). The PGT outcomes for the mtDNA-PGT group and the follow-up of these patients in case of unsuccessful PGT was also reported.

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Purpose: Preimplantation genetic testing (PGT-M) and prenatal diagnosis (PND) followed by medical termination of pregnancy when the fetus is affected are two procedures developed to avoid the transmission of a severe hereditary disease which can be proposed to females that carried BRCA pathogenic variants. These females can also be offered fertility preservation (FP) when diagnosed with cancer or even before a malignancy occurs. The aim of the study was to evaluate the acceptability and personal attitude of women carrying a BRCA mutation toward techniques that can prevent BRCA transmission to their progeny.

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Article Synopsis
  • The study investigates how mitochondrial deficiencies affect the early development of human embryos, specifically during preimplantation.
  • It finds that pathogenic mitochondrial variants lead to significant changes in gene expression, hindering development, cell differentiation, and overall survival.
  • Although the study's sample size was small due to the rarity of affected embryos, the results indicate a clear relationship between mitochondrial DNA variations and impaired embryonic development.
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Study Question: Can ovarian tissue cryopreservation (OTC) be performed after controlled ovarian hyperstimulation (COH)?

Summary Answer: Unilateral oophorectomy after transvaginal oocyte retrieval is feasible on stimulated ovaries during one surgical step.

What Is Known Already: In the fertility preservation (FP) field, the timeframe between patient referral and start of curative treatment is limited. Combining oocyte pick-up with ovarian tissue (OT) extraction has been reported to improve FP but COH applied before OT extraction is not currently recommended.

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In this study, we aimed to evaluate the pregnancy outcomes for embryos biopsied twice at cleavage and blastocyst stage for preimplantation genetic testing (PGT). This retrospective monocentric study, conducted between January 2016 and March 2021, described all PGT results on one hand and the PGT results for undiagnosed embryos submitted to a second biopsy on the other hand. Among the 5865 embryos biopsied during the study period, 510 embryos were genetic undiagnosed after the first embryo biopsy at cleavage stage (8.

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Data on preimplantation genetic testing (PGT-M) in patients with genetic susceptibility to cancer are scarce in the literature, while there is, in our experience, a growing familiarity with assisted reproduction techniques (ART) among pathogenic variant heterozygotes. We performed a retrospective multicenter study of PGT-M outcomes among French patients with genetic susceptibility to cancer. Our objectives were to collect data on this complex issue, and to help cancer geneticists counsel their patients of reproductive age.

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Research Question: What is the impact of radiation exposure on oocyte quality and female fertility?

Design: Prepubertal mice underwent whole-body irradiation with a single dose (0.02, 0.1, 0.

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Study Question: What are the chances of obtaining a healthy transferable cleavage-stage embryo according to the number of mature oocytes in fragile X mental retardation 1 (FMR1)-mutated or premutated females undergoing preimplantation genetic testing (PGT)?

Summary Answer: In our population, a cycle with seven or more mature oocytes has an 83% chance of obtaining one or more healthy embryos.

What Is Known Already: PGT may be an option to achieve a pregnancy with a healthy baby for FMR1 mutation carriers. In addition, FMR1 premutation is associated with a higher risk of diminished ovarian reserve and premature ovarian failure.

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Article Synopsis
  • Many transgender individuals have high reproductive desires, but fertility preservation and sperm donation options in France were limited until recently due to restrictive Bioethics Law.
  • A national survey conducted at 28 reproductive technology centers revealed that a significant number of these centers provide services for fertility preservation, with 71.4% treating transgender patients.
  • Results indicated that transgender women are more likely to seek and achieve fertility preservation compared to transgender men, and a notable percentage of centers offer sperm donation services for couples including transgender men.
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Estrogen receptor beta (ERβ) plays a critical role in granulosa cell (GC) functions. The existence of four human ERβ splice isoforms in the ovary suggests their differential implication in 17β-estradiol (E2) actions on GC apoptosis causing follicular atresia. In this study, we investigated whether E2 can regulate ERβ isoforms expression to fine tune its apoptotic activities in human GC.

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Purpose: The aim of this study was to evaluate the outcomes of frozen oocytes or embryos cryopreserved after controlled ovarian stimulation (COS) or in vitro maturation (IVM) for female cancer patients who underwent a fertility preservation (FP) prior to gonadotoxic therapy.

Methods: A retrospective cohort study from 2009 to December 2017 was conducted. Among the 667 female cancer patients who underwent oocytes or embryos cryopreservation for FP, 40 (6%) have returned to the fertility clinic between 2011 and 2019 to use their frozen material after being cured.

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Article Synopsis
  • - Researchers studied how mitochondrial DNA (mtDNA) mutations affect embryonic development by comparing 165 normal human embryos to 16 embryos with mtDNA mutations at the cleavage stage.
  • - They assessed the morphology, viability, and mtDNA content of the embryos using real-time PCR to measure mtDNA copy number.
  • - The findings revealed that mtDNA mutations did not influence embryonic quality, viability, or mtDNA copy number, indicating that these mutations do not alter mtDNA metabolism during early development.
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Article Synopsis
  • Germline mosaicism, although rare, is often underestimated because it involves genomic variations in germ cells, like SNPs and CNVs, which can affect fertility and pregnancy outcomes.
  • In a reported case, sperm from a donor led to four pregnancies, one of which had major developmental issues, including a significant chromosomal deletion linked to paternal mosaicism.
  • The study emphasizes that standard genetic tests on blood do not rule out germline mosaicism, highlighting the necessity for thorough monitoring of pregnancies resulting from sperm donation.
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Objective: The aims of this study were to follow up the monitoring, health and anxiety from women who became pregnant after an embryo transfer or a intrauterine insemination during the COVID-19 epidemic in France STUDY DESIGN: This is a single centre, retrospective study from December 2019 to March 2020 based on a phone call interview using a specific questionnaire sheet specially developed for this study. Questionnaires from 104 pregnant women were completed and descriptive data are then analyzed.

Results: Women with ongoing pregnancies (n = 88) did not change their physician visits.

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Research Question: Chromosomal translocations are known genetic causes of premature ovarian insufficiency syndrome. Are certain translocations associated with decreased capacity of small antral follicles to respond to exogenous FSH? Does the prognosis after preimplantation genetic testing for structural rearrangements differ in couples with female or male translocation carriers and according to the type of translocation?

Design: A single-centre, retrospective, observational study covering a 10-year period. One hundred and thirty-nine females carrying a translocation were compared with 192 partners of male translocation carriers.

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Context: Myotonic dystrophy (DM) is an autosomal dominant disorder characterized mainly by myotonia but also by primary hypogonadism. No study has reported on fertility management of patients affected by DM type 1 (DM1).

Objective: This study investigates the impact of CTG repeats in the DMPK gene on semen quality and preimplantation genetic diagnosis (PGD) outcome.

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Research Question: Chromosomal translocations are known genetic causes of male infertility. Are certain translocations or chromosomal regions more directly associated with sperm defects? Is there a threshold of sperm impairment that can be relevant for detection of translocations?

Design: This is a monocentric retrospective observational study covering a 10-year period. Eighty-one patients carrying a reciprocal translocation (RCT) and 63 carrying a Robertsonian translocation (ROBT) were compared with 105 fertile patients.

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We report on a case of loiasis revealed during an assisted reproductive technology (ART) cycle. could limit implantation outcome. We propose to focus on an ART strategy with frozen embryos to treat the patient before any transfer.

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The recent birth from a mitochondrial DNA mutation carrier of a child, conceived after transfer in a donor oocyte of the meiotic spindle, taken from the maternal oocyte, revived the debate on the safety of these procedures. The doubts concern mainly the possibility of genetic reversion, the uncertainties about potential disturbances of the dialogue between nuclear and mitochondrial genomes and the side effects of a heteroplasmic state induced by these techniques. The possibility to expand nuclear transfer applications to patients experiencing in vitro fertilization failure, urges us to answer these questions rapidly.

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Unlabelled: Short gamete co-incubation (SGCO) consists in decreasing the duration of contact between oocytes and sperm from the standard overnight insemination (SOI) toward 2 hours. However, the effectiveness of this technique to improve in vitro fertilization and embryo transfer (IVF-ET) outcomes remains controversial. Our study was designed to evaluate the efficiency of SGCO in a poor prognosis population with a history of fragmented embryos defined by the presence of at least 50% of the embryos with more than 25% of cytoplasmic fragments.

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