Invasive genetic testing for isolated increased nuchal translucency of 3.0-3.4 mm: Results from cohort analysis with 604 fetuses

被引：0
作者：
Jing, Xiang-Yi [1 ]
Xiao, Zhi-Qing [1 ]
Li, Dong-Zhi [1 ]
机构：
[1] Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China
来源：
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS | 2025年 / 168卷 / 03期
关键词：
exome sequencing; microarray; nuchal translucency thickening; prenatal diagnosis; NORMAL KARYOTYPE;
D O I：
10.1002/ijgo.15928
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
Isolated increased nuchal translucency of 3.0-3.4 mm was associated with increased risk of chromosomal anomalies and monogenic syndromes.
引用
收藏
页码：1331 / 1333
页数：3
相关论文
共 8 条
[1]   Increased nuchal translucency with normal karyotype and anomaly scan: What next? [J].
Bakker, Merel ;
Pajkrt, Eva ;
Bilardo, Caterina M. .
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY, 2014, 28 (03) :355-366
[2]   Whole exome sequencing in fetuses with isolated increased nuchal translucency: a systematic review and meta-analysis [J].
Di Girolamo, Raffaella ;
Rizzo, Giuseppe ;
Khalil, Asma ;
Alameddine, Sara ;
Lisi, Gabriele ;
Liberati, Marco ;
Novelli, Antonio ;
D'Antonio, Francesco .
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2023, 36 (01)
[3]   Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis [J].
Grande, M. ;
Jansen, F. A. R. ;
Blumenfeld, Y. J. ;
Fisher, A. ;
Odibo, A. O. ;
Haak, M. C. ;
Borrell, A. .
ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2015, 46 (06) :650-658
[4]  
Ji X., 2023, FRONT GENET, V14
[5]   Pregnancy outcome for fetuses with increased nuchal translucency but normal karyotype [J].
Lithner, Christina Unger ;
Kublickas, Marius ;
Ek, Sverker .
JOURNAL OF MEDICAL SCREENING, 2016, 23 (01) :1-6
[6]   Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review [J].
Petersen, Olav B. ;
Smith, Eric ;
Van Opstal, Diane ;
Polak, Marike ;
Knapen, Maarten F. C. M. ;
Diderich, Karin E. M. ;
Bilardo, Caterina M. ;
Arends, Lidia R. ;
Vogel, Ida ;
Srebniak, Malgorzata, I .
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, 2020, 99 (06) :765-774
[7]   Risk of Clinically Significant Chromosomal Microarray Analysis Findings in Fetuses With Nuchal Translucency From 3.0 mm Through 3.4 mm [J].
Sagi-Dain, Lena ;
Singer, Amihood ;
Ben Shachar, Shay ;
Josefsberg Ben Yehoshua, Sagi ;
Feingold-Zadok, Michal ;
Greenbaum, Lior ;
Maya, Idit .
OBSTETRICS AND GYNECOLOGY, 2021, 137 (01) :126-131
[8]   The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study [J].
Sukenik-Halevy, Rivka ;
Perlman, Sharon ;
Ruhrman-Shahar, Noa ;
Engel, Offra ;
Orenstein, Naama ;
Gonzaga-Jauregui, Claudia ;
Shuldiner, Alan R. ;
Center, Regeneron Genetics ;
Magal, Nurit ;
Hagari, Ofir ;
Azulay, Noy ;
Lidzbarsky, Gabriel Arie ;
Bazak, Lily ;
Basel-Salmon, Lina .
PRENATAL DIAGNOSIS, 2022, 42 (06) :717-724
1