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Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency.
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-07-15 , DOI: 10.1002/pd.5792 Huanchen Yan 1, 2 , Xiaofan Zhu 3, 4 , Jingsi Chen 1, 2 , Ye Cao 3 , Yvonne Ka Yin Kwok 3 , Zihan Chen 4 , Tak Yeung Leung 3, 5 , Min Chen 1, 2 , Kwong Wai Choy 3, 4, 5
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-07-15 , DOI: 10.1002/pd.5792 Huanchen Yan 1, 2 , Xiaofan Zhu 3, 4 , Jingsi Chen 1, 2 , Ye Cao 3 , Yvonne Ka Yin Kwok 3 , Zihan Chen 4 , Tak Yeung Leung 3, 5 , Min Chen 1, 2 , Kwong Wai Choy 3, 4, 5
Affiliation
To evaluate the performance of noninvasive prenatal sequencing for multiple Mendelian monogenic disorders (NIPS‐M) among fetuses with skeletal abnormalities or increased nuchal translucency (NT).
中文翻译:
对骨骼发育不良或颈部半透明增加的胎儿中多种孟德尔单基因疾病的无创产前测序。
评估非侵入性产前测序对骨骼异常或颈部半透明 (NT) 增加的胎儿中多种孟德尔单基因疾病 (NIPS-M) 的性能。
更新日期:2020-07-15
中文翻译:
对骨骼发育不良或颈部半透明增加的胎儿中多种孟德尔单基因疾病的无创产前测序。
评估非侵入性产前测序对骨骼异常或颈部半透明 (NT) 增加的胎儿中多种孟德尔单基因疾病 (NIPS-M) 的性能。