Preimplantation genetic testing for hereditary hearing loss in Chinese population.
Genetic counseling
Hereditary hearing loss
MALBAC
PGT
Whole genome amplification
Journal
Journal of assisted reproduction and genetics
ISSN: 1573-7330
Titre abrégé: J Assist Reprod Genet
Pays: Netherlands
ID NLM: 9206495
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
received:
16
02
2022
accepted:
13
02
2023
medline:
19
7
2023
pubmed:
6
4
2023
entrez:
5
4
2023
Statut:
ppublish
Résumé
To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population. A PGT procedure combining multiple annealing and looping-based amplification cycles (MALBAC) and single-nucleotide polymorphisms (SNPs) linkage analyses with a single low-depth next-generation sequencing run was implemented. Forty-three couples carried pathogenic variants in autosomal recessive non-syndromic HL genes, GJB2 and SLC26A4, and four couples carried pathogenic variants in rare HL genes: KCNQ4, PTPN11, PAX3, and USH2A were enrolled. Fifty-four in vitro fertilization (IVF) cycles were implemented, 340 blastocysts were cultured, and 303 (89.1%) of these received a definite diagnosis of a disease-causing variant testing, linkage analysis and chromosome screening. A clinical pregnancy of 38 implanted was achieved, and 34 babies were born with normal hearing. The live birth rate was 61.1%. In both the HL population and in hearing individuals at risk of giving birth to offspring with HL in China, there is a practical need for PGT. The whole genome amplification combined with NGS can simplify the PGT process, and the efficiency of PGT process can be improved by establishing a universal SNP bank of common disease-causing gene in particular regions and nationalities. This PGT procedure was demonstrated to be effective and lead to satisfactory clinical outcomes.
Identifiants
pubmed: 37017887
doi: 10.1007/s10815-023-02753-8
pii: 10.1007/s10815-023-02753-8
pmc: PMC10352472
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1721-1732Subventions
Organisme : Reproductive Health and Serious Birth Defect Prevention Research project
ID : 2016YFC1000704
Organisme : Reproductive Health and Serious Birth Defect Prevention Research project
ID : 2016YFC1000706
Organisme : National Natural Science Foundation of China
ID : 81730029
Organisme : National Natural Science Foundation of China
ID : 81733706
Organisme : National Natural Science Foundation of China
ID : 81870731
Organisme : National Natural Science Foundation of China
ID : 81900953
Organisme : Beijing Natural Science Foundation
ID : 7191011
Organisme : Beijing Natural Science Foundation
ID : 7192234
Organisme : Hainan Provincial Department of Science and Technology
ID : 819MS110
Organisme : Fostering Funds of Chinese PLA General Hospital for National Distinguish Young Scholar
ID : 2017-JQPY-001
Organisme : National key research of development program of China
ID : 2018YFC1003100
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2023. The Author(s).
Références
Audiol Neurootol. 2010;15(5):311-7
pubmed: 20160438
Genet Med. 2019 Nov;21(11):2614-2630
pubmed: 31171844
Mol Hum Reprod. 2004 Oct;10(10):767-72
pubmed: 15322224
Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2026-36
pubmed: 25281338
Clin Genet. 2016 Apr;89(4):466-472
pubmed: 26346818
Eur J Hum Genet. 2020 Feb;28(2):231-243
pubmed: 31541171
Hum Reprod Open. 2020 May 29;2020(3):hoaa018
pubmed: 32500103
J Reprod Infertil. 2020 Apr-Jun;21(2):107-115
pubmed: 32500013
Lancet. 2021 Mar 13;397(10278):996-1009
pubmed: 33714390
BMC Med Genomics. 2019 Nov 7;12(1):157
pubmed: 31699113
Hum Genet. 2016 Apr;135(4):441-450
pubmed: 26969326
Am J Med Genet A. 2013 Jan;161A(1):76-81
pubmed: 23208825
Nature. 1990 Apr 19;344(6268):768-70
pubmed: 2330030
J Genet Genomics. 2017 Jun 20;44(6):285-294
pubmed: 28642064
Genet Med. 2017 Dec;19(12):1309-1316
pubmed: 28541280
Hear Res. 2019 Feb;372:29-41
pubmed: 29395617
Proc Natl Acad Sci U S A. 2015 Dec 29;112(52):15964-9
pubmed: 26712022
Am J Hum Genet. 2019 Oct 3;105(4):803-812
pubmed: 31564438
Front Genet. 2021 Feb 09;12:633003
pubmed: 33633790
Eur J Obstet Gynecol Reprod Biol X. 2019 Jun 01;4:100055
pubmed: 31673687
J Assist Reprod Genet. 2009 Jul;26(7):391-7
pubmed: 19728075
Fertil Steril. 2013 Mar 15;99(4):1044-8
pubmed: 23394777
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
BMC Med Genomics. 2018 Jul 09;11(1):58
pubmed: 29986705
Nat Med. 2019 Mar;25(3):439-447
pubmed: 30692697
Ugeskr Laeger. 2009 Apr 20;171(17):1387-91
pubmed: 19413935
J Genet Couns. 2001 Apr;10(2):121-31
pubmed: 11767801
N Engl J Med. 2006 May 18;354(20):2151-64
pubmed: 16707752
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Nov 7;51(11):819-825
pubmed: 27938607
J Assist Reprod Genet. 2019 Jun;36(6):1263-1271
pubmed: 31187331
Otolaryngol Pol. 2011 Nov-Dec;65(6):443-6
pubmed: 22208942
Oncol Lett. 2018 Apr;15(4):4296-4302
pubmed: 29541197
Hum Reprod Open. 2021 Jul 27;2021(3):hoab024
pubmed: 34322603
Cell Mol Biol (Noisy-le-grand). 2018 Jun 30;64(9):1718
pubmed: 30030956
Diagnostics (Basel). 2021 Dec 20;11(12):
pubmed: 34943631
Ophthalmic Genet. 2018 Aug;39(4):450-456
pubmed: 29781739
PLoS One. 2013 Sep 05;8(9):e73245
pubmed: 24039893
Genet Med. 2014 Nov;16(11):838-45
pubmed: 24810687