Preimplantation genetic testing with HLA matching: from counseling to birth and beyond

Rycke, Martine De; Vos, Anick De; Belva, Florence; Berckmoes, Veerle; Bonduelle, M.; Buysse, Andrea; Keymolen, Kathelijn; Liebaers, Inge; Nekkebroeck, Julie; Verdyck, P.; Verpoest, Willem

doi:10.1038/s10038-020-0732-z

Cited by 19 publications

(17 citation statements)

References 35 publications

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“…Unequal access may induce cross-border reproductive genetic care, where patients travel abroad to receive care that is not permitted or too difficult to access in their home country. Our data for PGT with HLA matching -a more controversial indication -clearly exemplify this with 56% of patients coming from abroad (De Rycke et al 2020).…”

Section: Regulation Guidelines Eqa and Quality Assurancesupporting

confidence: 64%

“…PGT with HLA typing is challenging as the procedure is complex and the success rates are limited, mainly because of the low genetic chance of finding an embryo genetically suitable for transfer. Few large data sets have been published, but they show that on average only 15% of diagnosed embryos are suitable for transfer (Kahraman et al 2014, Kakourou et al 2018, Umay Kara et al 2019, De Rycke et al 2020. Our own experience after two decades of PGT with HLA typing shows that it is a valuable approach in which the successful hematopoietic stem cell transplantation outcome and the positive impact on families balances the high complexity and limited delivery rate of the procedure (De Rycke et al 2020).…”

Section: Indicationsmentioning

confidence: 99%

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PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing

et al. 2020

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Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and more efficient cryopreservation methods have led to more accurate diagnoses and improved clinical outcomes. In addition, the shift towards embryo biopsy at day 5/6 has changed the timeline of a typical PGT clinical procedure. The Brussels' PGT centre started more than 25 years ago, offering PGT within a healthcare system funded by the government. In this paper, we have summarized our experience with PGT, presenting an up-to-date overview of the different steps in PGT from patient referral to baby follow-up.

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Section: Regulation Guidelines Eqa and Quality Assurancesupporting

confidence: 64%

Section: Indicationsmentioning

confidence: 99%

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing

et al. 2020

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“…A high diagnostic efficiency is a prerequisite for any laboratory wishing to perform PGT as this potentially increases the clinical outcome. This is particularly true for indications with limited success rate a priori, such as for PGT-M with HLA typing where the chance of finding a genetically compatible embryo was shown to be only 16% [59]. This yielded a live birth delivery rate of 30.3% per transfer, showing that PGT with HLA typing is a valuable procedure where the high complexity and limited delivery rate are balanced by the successful transplantation outcome and the positive impact on families.…”

Section: Clinical Outcomementioning

confidence: 99%

Preimplantation Genetic Testing for Monogenic Disorders

Rycke

Berckmoes

2020

Genes

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Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

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“…A recent report identified 16Á5% of embryos created for the purpose of having an HLA-matched sibling were suitable for transfer. 70 Patient education and counselling should address the complex risks and benefits of treatment. Existing patient education materials about IVF + PGT-M exceed the reading levels of most Americans, 71 highlighting the value of genetic counsellors and others trained to provide accessible education on complex genetic and reproductive concepts.…”

Section: Artificial Reproductive Technologiesin Vitro Fertilizationmentioning

confidence: 99%

“…The costs of IVF + PGT-M to prevent SCD or to implant an HLA-matched embryo to produce a matched sibling donor need further study and might inform compassionate policy solutions for care. 70,72…”

Section: Artificial Reproductive Technologiesin Vitro Fertilizationmentioning

confidence: 99%

Knowledge gaps in reproductive and sexual health in girls and women with sickle cell disease

et al. 2021

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There is an immediate need to address long-standing questions about the reproductive health of girls and women with sickle cell disease (SCD). There are many SCD-related reproductive risks and uncertainties across girls' and women's reproductive life span, with particularly outstanding concerns about menstruation, contraception, fertility and pregnancy. Extant literature addressing women's reproductive health topics is mostly descriptive; there are few high-quality interventional studies. In 2020, the Centers for Disease Control and Prevention and the Foundation for Women and Girls with Blood Disorders convened an expert panel to assess the knowledge gaps in women's reproductive health in SCD. The panel identified significant limitations to clinical care due to the need for research. The panel also identified prominent barriers to research and care. In this report, we frame these issues, providing a roadmap for investigators, funding agencies, and policy makers to advance care for girls and women with SCD.

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Preimplantation genetic testing with HLA matching: from counseling to birth and beyond

Cited by 19 publications

References 35 publications

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing

PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing

Preimplantation Genetic Testing for Monogenic Disorders

Knowledge gaps in reproductive and sexual health in girls and women with sickle cell disease

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