Clinical aspects of preimplantation genetic diagnosis for single gene disorders combined with HLA typing

Kahraman, Semra; Karlikaya, G.; Sertyel, S.; Karadayi, H.; Fındıklı, Necati

doi:10.1016/s1472-6483(10)61637-9

Cited by 50 publications

(23 citation statements)

References 11 publications

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“…This resulted in a clinical pregnancy and birth of a healthy carrier of FANCC gene, whose umbilical cord blood was collected at birth and transplanted to the affected sibling, resulting in a successful hematopoietic reconstitution [2]. This world's first case has opened a new chapter in stem cell transplantation treatment of congenital and acquired diseases using the technology of preimnplantation HLA typing [6][7][8][9][10][11][12][13][14][15]. So the present paper describes the progress in PGD for HLA since the description of the above case, involving preimplantatgion HLA typing for a variety of congenital and acquired conditions, demonstrating that PGD has become an acceptable practical option for HLA matched stem cell transplantation treatment for inherited and sporadic bone marrow failures.…”

Section: Introductionmentioning

confidence: 99%

Preimplantation HLA typing for stem cell transplantation treatment of congenital and acquired bone marrow failures

Kuliev¹,

Rechitsky²

2016

Hematol Med Oncol

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Since we have first introduced preimplantation HLA typing more than 16 years ago, it has become a practical option for stem cell transplantation treatment of congenital and acquired bone marrow failures. This paper summarises our experience of 390 preimplantation HLA typing, representing a part of preimplantation genetic diagnosis (PGD) series, which is the world's largest PGD experience, involving PGD for approximately 500 genetic conditions. The proportion of PGD cases performed combined with HLA typing is steadily increasing, with iimproved awareness of at risk couples regarding PGD as a realistic option for radical treatment of their affected children with bone marrow failures. Preimplantation HLA typing involves detection and transfer of HLA matched unaffecetd embryos, to obtain an HLA compatible offspring as potential donors for their affected siblings. Available results of HLA matched stem cell transplantation treatment following PGD shows a successful hematopoietic reconstitution of patients with different conditions, suggesting that PGD is an efficient approach for HLA matched stem cell transplantation treatment of congetital and acquired bone marrow failures.

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Section: Introductionmentioning

confidence: 99%

Preimplantation HLA typing for stem cell transplantation treatment of congenital and acquired bone marrow failures

Kuliev¹,

Rechitsky²

2016

Hematol Med Oncol

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“…Consequently, it has been suggested that application of PGD in combination with HLA typing is a promising therapeutic tool for an affected sibling. 109 Before the existence of PGD, natural conception followed by PND, and possibly termination of pregnancy, was the only alternative, when trying to find a HLA-matching future sibling. 105,110 No unaffected or diagnosed embryos available for transfer It often happens that no unaffected embryos are available for transfer.…”

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confidence: 99%

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

et al. 2006

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“…PGS (or PGD-A) refers to non-targeted technologies that detect chromosome abnormalities (principally aneuploidy), whereas PGD generally pertains to the detection of single gene disorders, translocations and Human Leukocyte Antigen (HLA) matching for immunological compatibility testing [9][10][11]. This technology was applied clinically for the first time for the treatment of Fanconi anaemia (FA) by HLA matching [12] and has since been shown in many clinical studies that PGD in combination with HLA typing is an effective therapeutic tool for treatment of an affected sibling [13][14][15][16].…”

Section: The Need For Karyomappingmentioning

confidence: 99%

Karyomapping and how is it improving preimplantation genetics?

Gould

Griffin

2017

Expert Review of Molecular Diagnostics

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Introduction: Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different.Areas Covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments. The output displays homologous chromosomes, crossovers and the genetic status of the embryos by linkage comparison, as well as chromosomal disorders. It also allows for determination of heterozygous SNP calls, avoiding the risks of allele dropout, a common problem with other PGD techniques. Manuscripts documenting the evolution of preimplantation genetics, especially those investigating technologies that would simultaneously detect monogenic and chromosomal disorders, were selected for review.Expert Commentary: Karyomapping is currently available for detection of single gene disorders; ~1000 clinics worldwide offer it (via ~20 diagnostic laboratories) and ~2500 cases have been performed. Due an inability to detect post-zygotic trisomy reliably however and confounding problems of embryo mosaicism, karyomapping has yet to be applied clinically for detection of chromosome disorders.

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Clinical aspects of preimplantation genetic diagnosis for single gene disorders combined with HLA typing

Cited by 50 publications

References 11 publications

Preimplantation HLA typing for stem cell transplantation treatment of congenital and acquired bone marrow failures

Preimplantation HLA typing for stem cell transplantation treatment of congenital and acquired bone marrow failures

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

Karyomapping and how is it improving preimplantation genetics?

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