Thin endometrial lining: is it more prevalent in patients utilizing preimplantation genetic testing for monogenic disease (PGT-M) and related to prior hormonal contraceptive use?
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ABSTRACT:
SUBMITTER: Homminga I
PROVIDER: S-EPMC9890269 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
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Thin endometrial lining: is it more prevalent in patients utilizing preimplantation genetic testing for monogenic disease (PGT-M) and related to prior hormonal contraceptive use?
Homminga I I Ter Meer A F AF Groen H H Cantineau A E P AEP Hoek A A
Human reproduction (Oxford, England) 20230201 2
<h4>Study question</h4>Is a thin endometrial lining before ovulation triggering more prevalent in patients utilizing preimplantation genetic testing for monogenic disease (PGT-M) compared to the regular IVF/ICSI population and is this associated with prior hormonal contraceptive use?<h4>Summary answer</h4>Thin (<8 mm) endometrial lining is more prevalent in PGT-M patients compared to the regular IVF/ICSI population and is associated with both longer prior hormonal contraceptive use and a shorter ...[more]
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Project description:BackgroundHereditary nephropathy is an important cause of renal insufficiency and end-stage renal disease. Therefore, for couples with monogenic nephropathy, preventing transmission of the disease to offspring is urgent. Preimplantation genetic testing for monogenic disorders (PGT-M) is a means to prevent intergenerational inheritance by screening and transplanting normal embryos. We provide a clinical overview of patients with monogenic nephropathy who underwent PGT-M.MethodsThe single-center retrospective cohort study was conducted at the Center for Reproductive Medicine, Shandong University from January 2014 to December 2022. A total of 352 couples with nephropathy-related disease were included in the cohort totally.ResultsOf the 352 couples with nephropathy-related disease, 180 accepted genetic screening. A total of 104 couples with monogenic nephropathy indications underwent PGT-M, including 90 of autosomal dominant inheritance, 10 of autosomal recessive inheritance, 4 of X-linked inheritance. 498 blastocysts were biopsied prior to testing, and 394 embryos underwent genetic testing, of which 76 were transferable, 247 were non-transferable and 71 were recommended for genetic counseling. Finally, 80 vitrified-thawed single blastocyst transfer cycles were performed in the cohort. Live births occurred in 38 women, of which 37 transferred embryos with non-pathogenic genotypes. The invasive prenatal diagnosis results of 18 women with live birth were obtained through follow-up, consistent with the PGT-M results of transferred embryos.ConclusionsPGT-M is an effective means of preventing intergenerational inheritance of monogenic nephropathy. The absence of genetic abnormalities detected by prenatal diagnosis in healthy newborns without monogenic nephropathy also underscore its validity.
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Project description:PurposePreimplantation genetic testing for monogenic disorders (PGT-M) allows early diagnosis in embryos conceived in vitro. PGT-M helps to prevent known genetic disorders in affected families and ensures that pathogenic variants in the male or female partner are not passed on to offspring. The trend in genetic testing of embryos is to provide a comprehensive platform that enables robust and reliable testing for the causal pathogenic variant(s), as well as chromosomal abnormalities that commonly occur in embryos. In this study, we describe PGT protocol that allows direct mutation testing, haplotyping, and aneuploidy screening.MethodsDescribed PGT protocol called OneGene PGT allows direct mutation testing, haplotyping, and aneuploidy screening using next-generation sequencing (NGS). Whole genome amplification product is combined with multiplex PCR used for SNP enrichment. Dedicated bioinformatic tool enables mapping, genotype calling, and haplotyping of informative SNP markers. A commercial software was used for aneuploidy calling.ResultsOneGenePGT has been implemented for seven of the most common monogenic disorders, representing approximately 30% of all PGT-M indications at our IVF centre. The technique has been thoroughly validated, focusing on direct pathogenic variant testing, haplotype identification, and chromosome abnormality detection. Validation results show full concordance with Sanger sequencing and karyomapping, which were used as reference methods.ConclusionOneGene PGT is a comprehensive, robust, and cost-effective method that can be established for any gene of interest. The technique is particularly suitable for common monogenic diseases, which can be performed based on a universal laboratory protocol without the need for set-up or pre-testing.
| S-EPMC10789686 | biostudies-literature
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| S-EPMC9559864 | biostudies-literature
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Project description:The field of preimplantation genetic testing (PGT) is evolving fast and best practice advice is essential for regulation and standardisation of diagnostic testing. The previous ESHRE guidelines on best practice for PGD, published in 2005 and 2011, are considered outdated, and the development of new papers outlining recommendations for good practice in PGT was necessary. The current paper provides recommendations on the technical aspects of PGT for monogenic/single-gene defects (PGT-M) and covers recommendations on basic methods for PGT-M and testing strategies. Furthermore, some specific recommendations are formulated for special cases, including de novo pathogenic variants, consanguineous couples, HLA typing, exclusion testing and disorders caused by pathogenic variants in the mitochondrial DNA. This paper is one of a series of four papers on good practice recommendations on PGT. The other papers cover the organisation of a PGT centre, embryo biopsy and tubing and the technical aspects of PGT for chromosomal structural rearrangements/aneuploidies. Together, these papers should assist scientists interested in PGT in developing the best laboratory and clinical practice possible.
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| S-EPMC9816169 | biostudies-literature
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