Pre-implantation HLA matching: The production of a Saviour Child

Kakourou, Georgia; Vrettou, Christina; Moutafi, Maria; Traeger-Synodinos, Joanne

doi:10.1016/j.bpobgyn.2017.05.008

Cited by 20 publications

(20 citation statements)

References 74 publications

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“…The clinical value of PGT with HLA matching has previously been discussed [22]. Allogeneic HSCT can use as a source for hematopoietic stem cells either bone marrow, peripheral blood or umbilical cord blood with the intention of repopulating and replacing the hematopoietic system of the recipient.…”

Section: Pgt With Human Leucocyte Antigen (Hla) Matching: Clinical Utmentioning

confidence: 99%

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Kakourou¹,

Mamas²,

Vrettou³

et al. 2019

obm genet

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Preimplantation Genetic Testing for Human Leucocyte Antigen-matching (PGT-HLA), first reported in 2001, has been one of the most controversial PGT applications. The procedure aims to identify an embryo that is not only healthy but also HLA-matched with a sibling in the family in need of hematopoietic stem cell transplantation (HSCT), considering that sibling HSCT stands the highest chance of success in comparison to alternative approaches of donor selection. HLA-typing can be performed with or without PGT for the exclusion of a monogenic disorder (PGT-M). The diagnostic PGT approach has greatly evolved over the years. HLA haplotyping by linkage analysis has been the most commonly applied generic approach to date but nowadays newer techniques (SNP arrays, NGS) are also being applied. PGT-HLA is a complex procedure that must be very well orchestrated between specialists of many different disciplines to ensure that successful HSCT is completed in time for the maximum benefit of the recipient. This review discusses the procedure and methodology of PGT, clinical application, and utility of PGT-HLA, and underlines how, despite the limitations, it has been a successful and realistic approach for many couples.

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Section: Pgt With Human Leucocyte Antigen (Hla) Matching: Clinical Utmentioning

confidence: 99%

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Kakourou¹,

Mamas²,

Vrettou³

et al. 2019

obm genet

Self Cite

View full text Add to dashboard Cite

show abstract

“…Preimplantation genetic diagnosis for human leukocyte antigen testing has the combined purpose to establish a pregnancy with an embryo HLA compatible with the affected sibling and at the same time unaffected for the familial disorder . The first PGD‐HLA matching case was reported in 2001 for Fanconi anemia and since then the number of reported cases has increased every year.…”

Section: Preimplantation Diagnosis For Human Leukocyte Antigen (Hla) mentioning

confidence: 99%

“…Guidelines recommend the minimum number of STR markers to use, as well as which of the HLA regions should be covered . The optimization of a PGD‐HLA protocol may span from a few weeks to several months, depending on the informativity of STR markers in the family and the ability to co‐amplify suitable STRs in one multiplex‐PCR protocol …”

Section: Preimplantation Diagnosis For Human Leukocyte Antigen (Hla) mentioning

confidence: 99%

“…Genetic probability predicts that only 18.8% of all embryos fertilized in any cycle will be suitable for transfer (the likelihood that 2 siblings are HLA matched is 25%, and only 75% of matched embryos will be unaffected for the hemoglobinopathy). In the light that implantation, pregnancy, and delivery rates in ART are approximately 30% on average, the overall success rate for PGD‐HLA matching, that is, the birth of an unaffected histocompatible baby, rarely surpasses about 10%‐15% for any cycle initiated . Thus couples (families) should be thoroughly counseled before embarking on a PGD‐HLA procedure.…”

Section: Preimplantation Diagnosis For Human Leukocyte Antigen (Hla) mentioning

confidence: 99%

“…Amongst established options are conventional PND and PGT‐M . Furthermore, an alternative application of PGT‐M is PGD‐HLA to support a HSCT by identifying healthy embryos that are HLA compatible with an existing sibling affected by a hemoglobinopathy . Finally, in the not‐too‐distant future, recent progress with research may support the option of noninvasive prenatal diagnosis (NIPD) for monogenic disorders, including the hemoglobinopathies …”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Prenatal and preimplantation diagnosis of hemoglobinopathies

Vrettou

Kakourou

Mamas

et al. 2018

Int J Lab Hematology

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The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material. PGT-M aims to characterize the genetic status of in vitro fertilized embryos during assisted reproductive technology (ART), in a few cells biopsied from oocytes/zygotes or embryos, in order to initiate an unaffected pregnancy. Another application of PGT-M is preimplantation genetic diagnosis for human leukocyte antigen (PGD-HLA), which, in addition to identifying unaffected embryos, also characterizes the embryos that are HLA compatible with an existing affected child requiring a hemopoietic stem cell transplantation (HSCT). This review outlines the current practices related to these procedures, with emphasis on the aspects related to laboratory techniques. Finally, future prospects related to developments in noninvasive prenatal diagnosis are discussed.

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Conception of Saviour Siblings: Ethical Perceptions of Selected Stakeholders in Malaysia

Kuek

Kaur

Tay³

2021

ABR

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The conception of saviour siblings using preimplantation genetic diagnosis coupled with human leukocyte antigen (HLA) typing or HLA typing alone is controversial and receives a wide divergence of legal responses among countries around the world. The resulting child conceived through this procedure is dubbed a 'saviour sibling' as the child can potentially act as a compatible donor for an elder ailing sibling who needs a haematopoietic stem cell transplantation. At present, the acceptability of this procedure in Malaysia is ambiguous as there is no specific statute governing assisted reproductive technology, and the guideline issued by the Malaysian Medical Council does not expressly address this issue. The ethical arguments relating to the conception of saviour siblings in the current literature are mainly thought to reflect a liberal viewpoint which is predominantly Western in nature. This paper seeks to explore the perception of selected key stakeholders on the acceptability of and ethical concerns related to this procedure in the Malaysian context. The findings indicate that stakeholders generally support the conception of saviour siblings and some of their concerns echo the Western viewpoint. Interestingly, many were highly anxious about its economic implication, which is rarely discussed in the current literature on saviour siblings.

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Pre-implantation HLA matching: The production of a Saviour Child

Cited by 20 publications

References 74 publications

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Preimplantation Genetic Testing for HLA-matching: An Overview of Clinical Application and Utility

Prenatal and preimplantation diagnosis of hemoglobinopathies

Conception of Saviour Siblings: Ethical Perceptions of Selected Stakeholders in Malaysia

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