6 research outputs found

    Evolution de la stimulation ovarienne en fecondation in vitro

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    SCOPUS: re.jinfo:eu-repo/semantics/publishe

    La fecondation in vitro a l'Hopital Erasme: 10 ans et 1000 grossesses plus tard....

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    This contribution summarize ten years of in vitro fertilization of clinical work. Activity growth, improvements of results (mean fertilization rate increased from 45% to 58%, fertilization failure dropped from 18% to 7%, pregnancy chances gains 9% to reach 44% per trial) and new treatments possibilities (severe male infertility) thanks to the ICSI technic were the major characteristics of this last ten years. The original anonymous oocyte donation program with donors permutation initiated as soon as 1990 has imposed itself due to it's exceptional efficiency with a pregnancy rate of 95% per oocyte pick up on a population of 46 donors and 145 recipient cycles. Thanks to the large population studied (4028 cycles, 1071 pregnancies), the tendencies in human fecundity (impact of age) and the risks linked to multiples pregnancies could be highlighted, stressing the importance of future developments presented in the other contributions following this general presentation of results.English AbstractJournal Articleinfo:eu-repo/semantics/publishe

    Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

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    Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy. Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy. Results: fCES identified the underlying genetic cause in 13% (24/183) of prospective and 29% (35/120) of retrospective cases. In both cohorts, recessive heterozygous compound genotypes were not rare, and trio and simplex variant analysis strategies were complementary to achieve the highest possible diagnostic rate. Limited prenatal phenotypic information led to interpretation challenges. In 2 prospective cases, in-depth analysis allowed expansion of the spectrum of prenatal presentations for genetic syndromes associated with the SLC17A5 and CHAMP1 genes. Conclusion: fCES is diagnostically efficient in fetuses presenting with cerebral, skeletal, urinary, or multiple anomalies. The comparison between the 2 cohorts highlights the importance of providing detailed phenotypic information for better interpretation and prenatal reporting of genetic variants. (C) 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved
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