Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report.
Fibrodysplasia ossificans progressive
Karyomapping
Preimplantation genetic testing for monogenic disorder
Journal
Journal of medical case reports
ISSN: 1752-1947
Titre abrégé: J Med Case Rep
Pays: England
ID NLM: 101293382
Informations de publication
Date de publication:
26 Apr 2024
26 Apr 2024
Historique:
received:
10
12
2023
accepted:
10
03
2024
medline:
26
4
2024
pubmed:
26
4
2024
entrez:
25
4
2024
Statut:
epublish
Résumé
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant condition that leads to significant disability and morbidity, characterised by the formation of heterotopic hard tissues within connective tissues. The condition has an incidence of approximately one per two million people worldwide. There is no known single effective treatment available for FOP. We report the world's first case of a healthy infant born following in vitro fertilisation (IVF) and preimplantation genetic testing for monogenic disorder (PGT-M) using Karyomapping for FOP. A 30-year-old Caucasian female with FOP presented with her partner seeking IVF with PGT-M to achieve a healthy pregnancy with an embryo unaffected by FOP. The couple underwent IVF and PGT-M using Karyomapping as the testing method. A multi-disciplinary team approach was utilised in planning this case, considering the additional risks of oocyte retrieval, pregnancy and childbirth in women with FOP. The oocyte retrieval was covered with a 5-day course of prednisolone to reduce the risk of a localised inflammatory reaction, which could result in subsequent heterotopic ossification. This was subsequently weaned down with reducing doses every two days. The patient underwent uncomplicated oocyte retrieval, yielding 12 mature oocytes. Following intracytoplasmic sperm injection (ICSI), ten zygotes having two pro-nuclei were cultured, and six underwent trophoectoderm biopsy and vitrification 5-6 days after retrieval. PGT-M via Karyomapping revealed four out of six (66.7%) of blastocysts were not carriers of the maternal high-risk FOP allele. In total, the patient had three separate embryo transfers. Pregnancy was achieved following the third frozen embryo transfer, which went to 37 weeks' gestation, and delivered by Caesarean section. The baby was born in excellent condition and is unaffected by FOP. IVF/ICSI and PGT-M using Karyomapping was successfully implemented to identify embryos carrying the high-risk FOP allele resulting in a healthy livebirth.
Identifiants
pubmed: 38664849
doi: 10.1186/s13256-024-04504-4
pii: 10.1186/s13256-024-04504-4
doi:
Substances chimiques
Prednisolone
9PHQ9Y1OLM
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
227Informations de copyright
© 2024. The Author(s).
Références
Kaplan FS, Chakkalakal SA, Shore EM. Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis. Dis Model Mech. 2012;5(6):756–62.
doi: 10.1242/dmm.010280
pubmed: 23115204
pmcid: 3484858
Anwar S, Yokota T. Navigating the complex landscape of fibrodysplasia ossificans progressiva: from current paradigms to therapeutic frontiers. Genes (Basel). 2023;14(12):2162.
doi: 10.3390/genes14122162
pubmed: 38136984
Liljesthröm MPR, Kaplan FS. Epidemiology of the global fibrodysplasia ossificans progressiva (FOP) community. J Rare Dis Res Treat. 2020;5(2):31–6.
doi: 10.29245/2572-9411/2020/2.1196
Shore EM, Feldman GJ, Xu M, Kaplan FS. The genetics of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab. 2005;3(3):201–4.
doi: 10.1385/BMM:3:3-4:201
Qi Z, Luan J, Zhou X, Cui Y, Han J. Fibrodysplasia ossificans progressiva: basic understanding and experimental models. Intractable Rare Dis Res. 2017;6(4):242–8.
doi: 10.5582/irdr.2017.01055
pubmed: 29259851
pmcid: 5735276
Cappato S, Traberg R, Gintautiene J, Zara F, Bocciardi R. A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene. Mol Genet Genomic Med. 2021;9(10): e1774.
doi: 10.1002/mgg3.1774
pubmed: 34347384
pmcid: 8580088
De Brasi D, Orlando F, Gaeta V, et al. Fibrodysplasia ossificans progressiva: a challenging diagnosis. Genes (Basel). 2021;12(8):1187.
doi: 10.3390/genes12081187
pubmed: 34440363
Wu J, Ren B, Shi F, Hua P, Lin H. BMP and mTOR signaling in heterotopic ossification: Does their crosstalk provide therapeutic opportunities? J Cell Biochem. 2019;120(8):12108–22.
doi: 10.1002/jcb.28710
pubmed: 30989716
Kitterman JA, Kantanie S, Rocke DM, Kaplan FS. Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva. Pediatrics. 2005;116(5):e654–61.
doi: 10.1542/peds.2005-0469
pubmed: 16230464
Kaplan FS, Le Merrer M, Glaser DL, et al. Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol. 2008;22(1):191–205.
doi: 10.1016/j.berh.2007.11.007
pubmed: 18328989
pmcid: 2424023
Kaplan FS, Xu M, Glaser DL, et al. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008;121(5):e1295–300.
doi: 10.1542/peds.2007-1980
pubmed: 18450872
Kaplan FS, Shen Q, Lounev V, et al. Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP). J Bone Miner Metab. 2008;26(6):521–30.
doi: 10.1007/s00774-008-0879-8
pubmed: 18979151
pmcid: 3620015
Kussmaul WG, Esmail AN, Sagar Y, Ross J, Gregory S, Kaplan FS. Pulmonary and cardiac function in advanced fibrodysplasia ossificans progressiva. Clin Orthop Relat Res. 1998;346:104–9.
doi: 10.1097/00003086-199801000-00015
Kaplan FS, Glaser DL, Shore EM, et al. The phenotype of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab. 2005;3(3):183–8.
doi: 10.1385/BMM:3:3-4:183
Muglu JA, Garg A, Pandiarajan T, et al. Pregnancy in fibrodysplasia ossificans progressiva. Obstet Med. 2012;5(1):35–8.
doi: 10.1258/om.2011.110042
pubmed: 27579132
Thornhill AR, Handyside AH, Ottolini C, et al. 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.
doi: 10.1007/s10815-014-0405-y
pubmed: 25561157
pmcid: 4363232
Li G, Niu W, Jin H, et al. Importance of embryo aneuploidy screening in preimplantation genetic diagnosis for monogenic diseases using the karyomap gene chip. Sci Rep. 2018;8(1):3139.
doi: 10.1038/s41598-018-21094-6
pubmed: 29453426
pmcid: 5816636
Ben-Nagi J, Wells D, Doye K, et al. Karyomapping: a single centre’s experience from application of methodology to ongoing pregnancy and live-birth rates. Reprod Biomed Online. 2017;35(3):264–71.
doi: 10.1016/j.rbmo.2017.06.004
pubmed: 28648921
Rauner M, Seefried L, Shore E. Genetics and future therapy prospects of fibrodysplasia ossificans progressiva. Med Genet. 2019;31(4):391–6.
Handyside AH, Harton GL, Mariani B, 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(10):651–8.
doi: 10.1136/jmg.2009.069971
pubmed: 19858130
Natesan SA, Bladon AJ, Coskun S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;16(11):838–45.
doi: 10.1038/gim.2014.45
pubmed: 24810687
pmcid: 4225458
Konstantinidis M, Prates R, Goodall NN, et al. Live births following Karyomapping of human blastocysts: experience from clinical application of the method. Reprod Biomed Online. 2015;31(3):394–403.
doi: 10.1016/j.rbmo.2015.05.018
pubmed: 26206283
Crawford NM, Steiner AZ. Age-related infertility. Obstet Gynecol Clin North Am. 2015;42(1):15–25.
doi: 10.1016/j.ogc.2014.09.005
pubmed: 25681837
Taranissi M, El-Toukhy T, Gorgy A, Verlinsky Y. Influence of maternal age on the outcome of PGD for aneuploidy screening in patients with recurrent implantation failure. Reprod Biomed Online. 2005;10(5):628–32.
doi: 10.1016/S1472-6483(10)61670-7
pubmed: 15949221
Vandervorst M, Liebaers I, Sermon K, et al. Successful preimplantation genetic diagnosis is related to the number of available cumulus-oocyte complexes. Hum Reprod. 1998;13(11):3169–76.
doi: 10.1093/humrep/13.11.3169
pubmed: 9853877
Babović IR, Dotlić J, Sparić R, et al. Gestational diabetes mellitus and antenatal corticosteroid therapy-a narrative review of fetal and neonatal outcomes. J Clin Med. 2022;12(1):323.
doi: 10.3390/jcm12010323
pubmed: 36615121
pmcid: 9820953
Van Marter LJ, Hernandez-Diaz S, Werler MM, Louik C, Mitchell AA. Nonsteroidal antiinflammatory drugs in late pregnancy and persistent pulmonary hypertension of the newborn. Pediatrics. 2013;131(1):79–87.
doi: 10.1542/peds.2012-0496
pubmed: 23209104
pmcid: 3529942