A Healthy HLA-matched Baby Born by Using a Combination of ACGH and Karyomapping: the First Latin American Case

Overview

Journal JBRA Assist Reprod

Specialty Reproductive Medicine

Date 2017 Nov 10

PMID 29120571

Authors

Andrea Delgado

Guillermo Llerena

Rosmary Lopez

Jimmy Portella

Naomi Inoue

Luis Noriega-Hoces

Luis Guzman

Affiliations

Soon will be listed here.

Abstract

PGD for HLA typing is a procedure that can be performed when an affected child requires a transplant to treat a non-hereditary disorder related to the hematopoietic and/or immune system. Hematopoietic stem cell transplantation from an HLA-identical donor provides the best treatment option. Three conventional ovarian stimulation procedures for IVF were performed in a couple with a 10-year-old child diagnosed with T-cell acute lymphoblastic leukemia of high risk. Trophectoderm biopsy and aCGH examination were performed on 15 blastocysts, three on the first IVF procedure, four on the second cycle, and eight on the third. Three euploid blastocysts HLA-compatible with the genome of the affected child were identified. One euploid blastocyst HLA-compatible with the affected child was warmed and transferred, resulting in an HLA-matched live birth. In conclusion, combined aCGH for aneuploidy screening and Karyomapping may be performed in a single biopsy procedure.

References

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. 2008; 24(3):732-40. DOI: 10.1093/humrep/den423. View

Tso L, Costello M, Albuquerque L, Andriolo R, Marjoribanks J, Macedo C . Metformin treatment before and during in vitro fertilization or intracytoplasmic sperm injection in women with polycystic ovary syndrome: summary of a Cochrane review. Fertil Steril. 2015; 104(3):542-4. DOI: 10.1016/j.fertnstert.2015.05.038. View

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(3):534-8. DOI: 10.1093/humrep/17.3.534. View

Belver L, Ferrando A . The genetics and mechanisms of T cell acute lymphoblastic leukaemia. Nat Rev Cancer. 2016; 16(8):494-507. DOI: 10.1038/nrc.2016.63. View

Kuwayama M . Highly efficient vitrification for cryopreservation of human oocytes and embryos: the Cryotop method. Theriogenology. 2006; 67(1):73-80. DOI: 10.1016/j.theriogenology.2006.09.014. View

Gaziev D, Galimberti M, Lucarelli G, Polchi P, Giardini C, Angelucci E . Bone marrow transplantation from alternative donors for thalassemia: HLA-phenotypically identical relative and HLA-nonidentical sibling or parent transplants. Bone Marrow Transplant. 2000; 25(8):815-21. PMC: 7102364. DOI: 10.1038/sj.bmt.1702242. View

Fernandez R, Pecina A, Lozano-Arana M, Sanchez B, Guardiola J, Garcia-Lozano J . Experience of preimplantation genetic diagnosis with HLA matching at the University Hospital Virgen del Rocío in Spain: technical and clinical overview. Biomed Res Int. 2014; 2014:560160. PMC: 4017834. DOI: 10.1155/2014/560160. View

Ren Y, Zhi X, Zhu X, Huang J, Lian Y, Li R . Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy. J Genet Genomics. 2016; 43(9):541-547. DOI: 10.1016/j.jgg.2016.03.011. View

Lamazou F, Steffann J, Frydman N, Burlet P, Gigarel N, Romana S . [Preimplantation diagnosis with HLA typing: birth of the first double hope child in France]. J Gynecol Obstet Biol Reprod (Paris). 2011; 40(7):682-6. DOI: 10.1016/j.jgyn.2011.08.007. View

10.

Natesan S, Bladon A, 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(11):838-45. PMC: 4225458. DOI: 10.1038/gim.2014.45. View

11.

Kakourou G, Vrettou C, Kattamis A, Destouni A, Poulou M, Moutafi M . Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing. Syst Biol Reprod Med. 2015; 62(1):69-76. DOI: 10.3109/19396368.2015.1100692. View

12.

Kol S . Luteolysis induced by a gonadotropin-releasing hormone agonist is the key to prevention of ovarian hyperstimulation syndrome. Fertil Steril. 2004; 81(1):1-5. DOI: 10.1016/j.fertnstert.2003.05.032. View

13.

Thornhill A, Handyside A, Ottolini C, Natesan S, Taylor J, Sage K . Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome. J Assist Reprod Genet. 2015; 32(3):347-56. PMC: 4363232. DOI: 10.1007/s10815-014-0405-y. View

14.

Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A . Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA. 2001; 285(24):3130-3. DOI: 10.1001/jama.285.24.3130. View

15.

Hellani A, Akoum S, Fadel E, Yousef H, Abu-Amero K . Successful pregnancies after combined human leukocyte antigen direct genotyping and preimplantation genetic diagnosis utilizing multiple displacement amplification. Saudi Med J. 2012; 33(10):1059-64. View

16.

Soni S, Boulad F, Cowan M, Scaradavou A, Dahake J, Edwards S . Combined umbilical cord blood and bone marrow from HLA-identical sibling donors for hematopoietic stem cell transplantation in children with hemoglobinopathies. Pediatr Blood Cancer. 2014; 61(9):1690-4. DOI: 10.1002/pbc.25085. View