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Preimplantation genetic diagnosis of hereditary hearing loss:a narrative review

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摘要 Preimplantation genetic diagnosis(PGD)uses molecular biological techniques to genetically diagnose embryos beforein vitro fertilization.The information obtained through PGD can help clinicians select healthy embryos for implantation,prevent the transmission of inherited diseases and help affected families have healthy children.This paper reviews the development of PGD technology,the history of its application to hereditary hearing loss,and the general process of how PGD is applied to screen for hereditary hearing loss.The aim of this review is to demonstrate the reliability of PGD in the primary prevention of hereditary hearing loss,assist clinicians in counseling patients at risk of transmitting an inherited disease,and explore the journey from PGD toin vitro fertilization.Given that the application of PGD technology to hereditary hearing loss varies in different countries and regions,there is still a long way to go before PGD is routinely applied for the primary prevention of hereditary hearing loss.
出处 《Journal of Bio-X Research》 2021年第4期137-144,共8页 生物组学研究杂志(英文)
基金 supported by the grants of the National Natural Science Foundation of China(Major Project No.81830028,Youths Program Nos.81900951 and 81900950) Beijing Municipal Natural Science Foundation Youth Projects(No.7204312) National Key Research and Development Project(No.2020YFC2005201)。
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  • 1王秋菊,赵亚丽,兰兰,赵翠,韩明鲲,韩东一.新生儿聋病基因筛查实施方案与策略研究[J].中华耳鼻咽喉头颈外科杂志,2007,42(11):809-813. 被引量:137
  • 2Morton CC, Nance WE. Newborn heating screening-a silent revolu- tion. N Engl J Med, 2006, 354:2151-2164.
  • 3Mujezinovic F, Alfirevic Z. Procedure-related complications of am- niocentesis and chorionic villous sampling: a systematic review. Ob- stet Gynecol, 2007, 110:687-694.
  • 4Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F. Proce- dure-related risk of miscarriage following amniocentesis and chori- onic villus sampling: a systematic review and meta-analysis. Ultra- sound Obstet Gynecol, 2015, 45:16-26.
  • 5Liss J, Mirecka A, Kitowska K, Lukaszuk K. Preimplantaion genetic diagnosis of hearing loss with 35delG mutation in GJB2 gene - pre- liminary report. Otolaryngol Pol, 2011, 65:443-446.
  • 6Wu CC, Lin SY, Su YN, Fang MY, Chen SU, Hsu CJ. Preimplanta- tion genetic diagnosis (embryo screening) for enlarged vestibular aq- ueduct due to SLC26A4 mutation. Audiol Neurootol, 2010, 15: 311-317.
  • 7Moutou C GV, Coonen E, De Rycke M, Kokkali G, Renwick P, SenGupta SB, Vesela K, Traeger-Synodinos J. ESHRE PGD Consor- tium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010. Hum Reprod, 2014, 29: 880-903.
  • 8Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P. Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blas- tomere biopsy. J Assist Reprod Genet, 2009, 26:391-397.
  • 9Meng M, Li XC, Ge H J, Chen F, Han MY, Zhang YY, Kang DY, Xie WW, Gao ZY, Pan XY, Dai P, Chi FL, Chen SP, Liu P, Zhang CL, Cao JJ, Jiang H, Xu X, Wang W, Duan T. Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma se- quencing in a case of congenital deafness. Genet Med, 2014, 16: 972-976.
  • 10Huang LH, Han DM, Guo Y, Liu S, Cui XY, Mo LY, Qi B, Cai ZH, Liu H, En H, Guo LS. Audiological characteristics of infants with abnormal transient evoked otoacoustic emission and normal auditory brainstem response. Biosci Trends, 2008, 2:211-215.

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