[1]吴怡,程蔚蔚*.我国出生缺陷防治体系的长足发展及技术进展[J].中国计划生育和妇产科,2019,(9):4-7.
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我国出生缺陷防治体系的长足发展及技术进展
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《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2019年9期
页码:
4-7
栏目:
综述
出版日期:
2019-09-25

文章信息/Info

作者:
吴怡程蔚蔚*
上海交通大学医学院附属国际和平妇幼保健院产前诊断中心
关键词:
出生缺陷防治技术进展
分类号:
R 715

参考文献/References:

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Clinical utility of array comparative genomic hybridisation for prenatal diagnosis:a cohort study of 3171 pregnancies [J]. BJOG : an International Journal of Obstetrics and Gynaecology, 2012(119): 614–625. [19]FIORENTINO F, NAPOLETANO S, CAIAZZO F A, et al. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities[J]. European Journal of Human Genetics, 2013, 21(7): 725-730. [20]Srebniak M I, BOTER M, OUDESLUIJS G O, et al. Genomic SNP array as a Gold standard for prenatal diagnosis of foetal ultrasound abnormalities [J]. Mol Cytogenet,2012,5(1):14-20. [21]Lee CN, Lin SY, Lin CH, et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies[J]. BJOG,2012,119(5):614-625. [22]WU Yi, WANG Yan-lin, TAO Jiong, et al. The clinical use of chromosomal microarray analysis in detection of fetal chromosomal rearrangements: a study from China Mainland[J]. European Journal of Obstetrics & Gynecology and Reproductive Biology, 2017, 212: 44-50. [23]Hillman SC, Pretlove S, Coomarasamy A, et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: A systematic review and meta-analysis[J]. Ultrasound Obstet. Gynecol,2011,37:6–14. [24]刘洪倩,刘俊涛,邬玲仟.低深度全基因组测序指南与共识[J].中华医学遗传学杂志,2019,36(4):293-296. [25]B G, KIRK E P, GIANNOULATOU E, et al. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease[J]. Journal of the American College of Cardiology, 2014, 64(23): 2498-2506. [26]于春冬,宋红,李文杰,等. 青岛地区566 395例新生儿17α-羟孕酮筛查结果分析[J/OL]. 中国儿童保健杂志,2019,195-198. http://kns.cnki.net/kcms/detail/61.1346.R.20190426.1454.019.html [27]王彦云,孙云,蒋涛.串联质谱技术检测羊水中丙酰基肉碱在甲基丙二酸血症产前诊断中的价值 [J].临床检验杂志,2019,37(6):428-429. 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更新日期/Last Update: 2019-09-25