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Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-10-20 , DOI: 10.1002/pd.5851
Ellen Hollands Steffensen 1, 2 , Jonathan Hyett 2, 3 , Olav Bjørn Petersen 4, 5 , Ida Vogel 1, 2 ,
Affiliation  

To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first‐trimester screening (cFTS) for the trisomies in Denmark in 2004.

中文翻译:

引入全国 21 三体、13 三体和 18 三体产前筛查后,22q11.2 缺失和 22q11.2 重复的产前检测增加

评估 22q11.2 缺失和 22q11.2 重复以及 21、13 和 18 三体在 2004 年引入产前筛查计划之前和之后的诊断时间,包括联合早孕筛查 (cFTS) 在丹麦的三体.
更新日期:2020-10-20
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