Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.
Journal
Journal of human genetics
ISSN: 1435-232X
Titre abrégé: J Hum Genet
Pays: England
ID NLM: 9808008
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
received:
13
08
2019
accepted:
03
02
2020
revised:
02
02
2020
pubmed:
28
2
2020
medline:
18
12
2020
entrez:
28
2
2020
Statut:
ppublish
Résumé
Preimplantation genetic testing-human leukocyte antigen '(PGT-HLA) only' refers to the HLA typing of single or few cells biopsied from in vitro fertilized preimplantation embryos. The aim of the procedure is to establish a pregnancy, in which the fetus is HLA compatible with an affected sibling in need of a hematopoietic stem cell transplantation (HSCT). During PGT-M-HLA, the identification of a HLA-compatible embryo is combined with the detection of mutation(s) underlying immunodeficiencies and hemoglobinopathies. We report a combined retrospective and prospective cohort analysis of PGT-(M-)HLA procedures carried out from 1998 until 2017, with follow-up of transplantations to 2019. During the study period, 234 couples from 22 countries were invited for a multidisciplinary consultation. Two couples were rejected and 70 couples declined (various reasons), leaving 162 couples for which 414 clinical cycles were carried out. Cleavage stage biopsy followed by single-cell multiplex PCR for short tandem repeat-based haplotyping was applied in most cases (98.7%). The diagnostic efficiency was high (94.8%) but only 16.5% of the embryos was genetically suitable for transfer. Fresh and frozen-thawed embryo transfer resulted in 67 clinical pregnancies, 63 deliveries, and 74 live births, of which 60 children were HLA compatible. This yielded a live birth delivery rate of 30.3% per transfer. Information on neonatal characteristics of the matching PGT-(M-)HLA children showed reassuring outcomes. So far, HSCT was carried out successfully for 25 out of 26 cases. In conclusion, our data show that PGT-(M-)HLA is a valuable procedure: the high complexity and limited delivery rate are balanced by the successful HSCT outcome and the positive impact on families.
Identifiants
pubmed: 32103123
doi: 10.1038/s10038-020-0732-z
pii: 10.1038/s10038-020-0732-z
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
445-454Références
Yeşilipek MA. Hematopoetic stem cell transplantation in children. Turk Pediatr Ars. 2014;49:91–8.
doi: 10.5152/tpa.2014.2010
Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001;285:3130–3.
doi: 10.1001/jama.285.24.3130
De Rycke M, Van de Velde H, Sermon K, Lissens W, De Vos A, Vandervorst M. Preimplantation genetic diagnosis for sickle-cell anemia and for beta-thalassemia. Prenat Diagn. 2001;21:214–22.
doi: 10.1002/1097-0223(200103)21:3<214::AID-PD51>3.0.CO;2-4
Van Steirteghem A, Nagy Z, Liu J, Joris H, Verheyen G, Smitz J. Intracytoplasmic sperm injection. Baillieres Clin Obstet Gynaecol. 1994;8:85–93.
doi: 10.1016/S0950-3552(05)80025-2
Vandervorst M, Liebaers I, Sermon K, Staessen C, De Vos A, Van de Velde H. Successful preimplantation genetic diagnosis is related to the number of available cumulus-oocyte complexes. Hum Reprod. 1998;13:3169–76.
doi: 10.1093/humrep/13.11.3169
Pennings G, Schots R, Liebaers I. Ethical considerations on preimplantation genetic diagnosis for HLA typing to match a future child as a donor of haematopoietic stem cells to a sibling. Hum Reprod. 2002;17:534–8.
doi: 10.1093/humrep/17.3.534
Belgian Law of July 6, 2007 on medically assisted reproduction. Beschikbaar op: http://www.ejustice.just.fgov.be/eli/wet/2007/07/06/2007023090/justel . Geciteerd 20 mei 2019.
Baetens P, Van de Velde H, Camus M, Pennings G, van Steirteghem A, Devroey P. HLA-matched embryos selected for siblings requiring haematopoietic stem cell transplantation: a psychological perspective. Reprod Biomed Online. 2005;10:154–63.
doi: 10.1016/S1472-6483(10)60935-2
Van de Velde H, Georgiou I, De Rycke M, Schots R, Sermon K, Lissens W. Novel universal approach for preimplantation genetic diagnosis of beta-thalassaemia in combination with HLA matching of embryos. Hum Reprod. 2004;19:700–8.
doi: 10.1093/humrep/deh153
Kakourou G, Kahraman S, Ekmekci GC, Tac HA, Kourlaba G, Kourkouni E. The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study. Hum Reprod. 2018;33:520–30.
doi: 10.1093/humrep/dex384
Kahraman S, Beyazyurek C, Yesilipek MA, Ozturk G, Ertem M, Anak S. Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching. Reprod Biomed Online. 2014;29:340–51.
doi: 10.1016/j.rbmo.2014.05.010
Bonduelle M, Wilikens A, Buysse A, Van Assche E, Devroey P, Van Steirteghem AC. A follow-up study of children born after intracytoplasmic sperm injection (ICSI) with epididymal and testicular spermatozoa and after replacement of cryopreserved embryos obtained after ICSI. Hum Reprod. 1998;13(Suppl 1):196–207.
doi: 10.1093/humrep/13.suppl_1.196
Van de Velde H, De Rycke M, De Man C, De Hauwere K, Fiorentino F, Kahraman S. The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing. Hum Reprod. 2009;24(maart):732–40.
pubmed: 19059946
Shenfield F, Pennings G, Cohen J, Devroey P, Tarlatzis B. ESHRE Task Force on Ethics and Law. Taskforce 9: the application of preimplantation genetic diagnosis for human leukocyte antigen typing of embryos. Hum Reprod. 2005;20:845–7.
doi: 10.1093/humrep/dei147
Nekkebroeck J, Rigo A, Desmyttere S, Bonduelle M, Liebaers I. PGD for HLA matching preliminary psychological child outcome. Hum Reprod. 2009;24:i236–56.
doi: 10.1093/humrep/dep811
Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47:651–8.
doi: 10.1136/jmg.2009.069971
Natesan SA, Bladon AJ, Coskun S, Qubbaj W, Prates R, Munne S. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16:838–45.
doi: 10.1038/gim.2014.45
Reichenbach J, Van de Velde H, De Rycke M, Staessen C, Platteau P, Baetens P. First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching. Pediatrics. 2008;122:e778–82.
doi: 10.1542/peds.2008-0123
Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod. 2011;26:33–40.
doi: 10.1093/humrep/deq231
Fiorentino F, Magli MC, Podini D, Ferraretti AP, Nuccitelli A, Vitale N. The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod. 2003;9:399–410.
doi: 10.1093/molehr/gag046
Verpoest W, De Vos A, De Rycke M, Parikh S, Staessen C, Tournaye H. Gonadotropin releasing hormone agonists or antagonists for preimplantation genetic diagnosis (PGD)? A prospective randomised trial. Curr Pharm Biotechnol. 2017;18:622–7.
doi: 10.2174/1389201018666170808130526
Gardner DK, Schoolcraft WB. Culture and transfer of human blastocysts. Curr Opin Obstet Gynecol. 1999;11:307–11.
doi: 10.1097/00001703-199906000-00013
Van den Abbeel E, Camus M, Verheyen G, Van Waesberghe L, Devroey P, Van Steirteghem A. Slow controlled-rate freezing of sequentially cultured human blastocysts: an evaluation of two freezing strategies. Hum Reprod. 2005;20:2939–45.
doi: 10.1093/humrep/dei134
Van Landuyt L, Polyzos NP, De Munck N, Blockeel C, Van de Velde H, Verheyen G. A prospective randomized controlled trial investigating the effect of artificial shrinkage (collapse) on the implantation potential of vitrified blastocysts. Hum Reprod. 2015;30:2509–18.
doi: 10.1093/humrep/dev218
Kolibianakis EM, Zikopoulos K, Verpoest W, Camus M, Joris H, Van Steirteghem AC. Should we advise patients undergoing IVF to start a cycle leading to a day 3 or a day 5 transfer? Hum Reprod. 2004;19:2550–4.
doi: 10.1093/humrep/deh447
Van Landuyt L, Stoop D, Verheyen G, Verpoest W, Camus M, Van, et al. Outcome of closed blastocyst vitrification in relation to blastocyst quality: evaluation of 759 warming cycles in a single-embryo transfer policy. Hum Reprod. 2011;26:527–34.
doi: 10.1093/humrep/deq374
Kolibianakis EM, Zikopoulos K, Devroey P. Implantation potential and clinical impact of cryopreservation-a review. Placenta. 2003;24(suppl B):S27–33.
doi: 10.1016/S0143-4004(03)00133-4
Peffault de Latour R, Chevret S, Jubert C, Sirvent A, Galambrun C, Ruggeri A. Unrelated cord blood transplantation in patients with idiopathic refractory severe aplastic anemia: a nationwide phase 2 study. Blood. 2018;132:750–4.
doi: 10.1182/blood-2018-01-829630
De Rycke M, Goossens V, Kokkali G, Meijer-Hoogeveen M, Coonen E, Moutou C, et al. Consortium data collection XIV-XV: cycles from January 2011 to December 2012 with pregnancy follow-up to October 2013. Hum Reprod. 2017;32:1974–94.
doi: 10.1093/humrep/dex265
Berckmoes V, Verdyck P, De Becker P, De Vos A, Verheyen G, Van, et al. Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease. Hum Reprod. 2019;34(mei):949–58.
doi: 10.1093/humrep/dez027
Goossens V, De Rycke M, De Vos A, Staessen C, Michiels A, Verpoest W. Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Hum Reprod. 2008;23:481–92.
doi: 10.1093/humrep/dem327
De Vos A, Staessen C, De Rycke M, Verpoest W, Haentjens P, Devroey P. Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: a prospective cohort of single embryo transfers. Hum Reprod. 2009;24:2988–96.
doi: 10.1093/humrep/dep251
De Rycke M, Belva F, Goossens V, Moutou C, SenGupta SB, Traeger-Synodinos J, et al. ESHRE PGD Consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011. Hum Reprod. 2015;30:1763–89.
doi: 10.1093/humrep/dev122
Rechitsky S, Pakhalchuk T, San Ramos G, Goodman A, Zlatopolsky Z, Kuliev A. First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing. Fertil Steril. 2015;103:503–12.
doi: 10.1016/j.fertnstert.2014.11.007
Desmyttere S, De Rycke M, Staessen C, Liebaers I, De Schrijver F, Verpoest W. Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD. Hum Reprod. 2012;27:288–93.
doi: 10.1093/humrep/der360
Williams TN, Thein SL. Sickle cell anemia and its phenotypes. Annu Rev Genomics Hum Genet. 2018;19:113–47.
doi: 10.1146/annurev-genom-083117-021320
Kurekci E, Küpesiz A, Anak S, Öztürk G, Gürsel O, Aksoylar S. Hematopoietic stem cell transplantation using preimplantation genetic diagnosis and human leukocyte antigen typing for human leukocyte antigen-matched sibling donor: a Turkish multicenter study. Biol Blood Marrow Transpl. 2017;23:790–4.
doi: 10.1016/j.bbmt.2017.02.002