1 Lord J,McMullan DJ,Eberhardt RY,et al.Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography(PAGE):a cohort study.Lancet,2019,393:747-757. 2 Yang Y,Muzny DM,Reid JG,et al.Clinical whole-exome sequencing for the diagnosis of mendelian disorders.N Engl J Med,2013,369:1502-1511. 3 Jelin AC,Sagaser KG,Wilkins-Haug L.Prenatal genetic testing options.Pediatr Clin North Am,2019,66:281-293. 4 Monaghan KG,Leach NT,Pekarek D,et al.The use of fetal exome sequencing in prenatal diagnosis:a points to consider document of the American College of Medical Genetics and Genomics(ACMG).Genet Med,2020,22:675-680. 5 Petrovski S,Aggarwal V,Giordano JL,et al.Whole-exome sequencing in the evaluation of fetal structural anomalies:a prospective cohort study.Lancet,2019,393:758-767. 6 符芳,黎璐珊,杜坤,等.对传统产前诊断阴性的先天性发育异常胎儿家系应用全外显子测序技术的分析.中华妇产科杂志,2021,56:458-466. 7 张鑫悦,游艳琴,周红辉,等.全外显子组测序技术用于妊娠早中期严重肢体短小胎儿的病因分析.中华妇产科杂志,2019,54:221-225. 8 Hafner C,van Oers JM,Vogt T,et al.Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.J Clin Invest,2006,116:2201-2207. 9 杨科,张玉薇,娄桂予,等.21例产前超声高度怀疑先天性骨骼系统畸形胎儿的遗传学分析.中华围产医学杂志,2022,25:28-34. 10 Yaron Y,Ofen Glassner V,Mory A,et al.Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.Ultrasound Obstet Gynecol,2022,60:59-67. 11 Baptiste C,Mellis R,Aggarwal V,et al.Fetal central nervous system anomalies:When should we offer exome sequencing? Prenat Diagn,2022,42:736-743. 12 Mademont-Soler I,Morales C,Soler A,et al.Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings:evaluation of chromosomal microarray-based analysis.Ultrasound Obstet Gynecol,2013,41:375-82. 13 Hopkins MK,Dugoff L,Kuller JA.Congenital heart disease:prenatal diagnosis and genetic associations.Obstet Gynecol Surv,2019,74:497-503. 14 Russell MW,Chung WK,Kaltman JR,et al.Advances in the understanding of the genetic determinants of congenital heart disease and their impact on clinical outcomes.J Am Heart Assoc,2018,7:e006906. 15 刘汉婕,李霞,梁亚男,等.心脏发育中重要转录因子Nkx2.5、GATA-4和Tbx5与先天性心脏病的致病性.国际遗传学杂志,2018,41:403-413. 16 Prendiville T,Jay PY,Pu WT.Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.Cold Spring Harb Perspect Med,2014,4:a013946. 17 许耘红,何穗镕,李丽青.心脏发育相关基因NKX2.5和GATA4突变与先天性心脏病的相关性.中国临床药理学杂志,2016,32:2111-2113. 18 He GN,Wang XY,Kang M,et al.Prenatal diagnosis of holt-oram syndrome with a novel mutation of TBX5 gene:a case report.Front Pediatr,2021,9:737633. 19 李烨,郝晓艳,孙海瑞,等.胎儿歌舞伎综合征的产前心脏超声及病理特征.中华围产医学杂志,2020,23:394-399. 20 Uy,N.and K.Reidy,Developmental genetics and congenital anomalies of the kidney and urinary tract.J Pediatr Genet,2016,5:51-60. 21 van der Ven AT,Connaughton DM,Ityel H,et al.Whole-Exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract.J A Soc Nephr,2018,29:2348-2361. 22 Bekheirnia MR,Bekheirnia N,Bainbridge MN,et al.Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genet Med,2017,19:412-420. 23 Hwang DY,Dworschak GC,Kohl S,et al.Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Kidney Int,2014,85:1429-1433. 24 Lei TY,Fu F,Li R,et al.Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography.Prenat Diagn,2020,40:1290-1299. 25 董敏,侯红梅,杨莹莹,等.产前超声联合遗传学检测诊断胎儿肾脏囊性疾病的临床价值.影像研究与医学应用,2022,6:191-193. 26 Saravanabavan S,Rangan GK.Possible role of the mitochondrial genome in the pathogenesis of autosomal dominant polycystic kidney disease.Nephrology(Carlton),2021,26:920-930. 27 Shuster S,Keunen J,Shannon P,et al.Prenatal detection of isolated bilateral hyperechogenic kidneys:Etiologies and outcomes.Prenatal Diagnosis,2019,39:693-700. 28 全外显子组测序技术在产前诊断中的应用协作组,娄桂予,侯巧芳,杨科,等.全外显子组测序技术在产前诊断中应用的专家共识.中华医学遗传学杂志,2022,39:457-463.
