期刊论文详细信息
Molecular Cytogenetics
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China
Research
Siqi Wu1  Huishu Liu2  Yanhong Zhou2  Yongling Zhang3  Xin Yang3  Ru Li3  Xiangyi Jing3  Jin Han3  Li Zhen3  Fucheng Li3 
[1] Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity and Child Healthcare Hospital of Shenzhen City, Shenzhen, Guangdong Province, China;Department of Obstetrics, First Affiliated Hospital of Jinan University, Guangzhou, China;Department of Obstetrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;Prenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;
关键词: Ultrasound soft markers (USMs);    Prenatal diagnosis;    Absent or hypoplastic nasal bone;    Karyotype;    Chromosomal microarray;   
DOI  :  10.1186/s13039-022-00633-x
 received in 2022-10-12, accepted in 2022-12-20,  发布年份 2022
来源: Springer
PDF
【 摘 要 】

BackgroundThere are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim of this study was to determine the detection rate of clinically significant chromosomal abnormalities (CSCA) in fetuses with different USMs. MethodsThis study included fetuses with USMs who underwent invasive prenatal diagnosis for karyotype and/or chromosomal microarray (CMA) by categorizing into two groups: a single USM (SUSM) and multiple USMs (MUSMs).ResultsOf the 358 cases with USMs, CSCA occurred in 3.09% (8/259) and 8.08% (8/99) of the SUSM and MUSM groups, respectively (P < 0.05). Of 16 cases identified with CSCA, theoretically 68.75% (11/16) could be detected by karyotype, while 31.25% (5/16) could be recognized only by CMA. Among CSCA cases, the most frequent USM was an absent or hypoplastic nasal bone (62.5%, 10/16). In cases with negative karyotypes and/or CMA, follow-up results were available in 307 cases, including 292 term deliveries, 6 preterm deliveries, 8 terminations of pregnancy due to USMs, and 1 still birth.ConclusionMUSMs increased the risk of chromosomal abnormalities. An absent or hypoplastic nasal bone was the most clinically significant marker either alone or in combination with other USMs. Most of SUSM had a good prognosis.

【 授权许可】

CC BY   
© The Author(s) 2023

【 预 览 】
附件列表
Files Size Format View
RO202305152028738ZK.pdf 1222KB PDF download
Fig. 6 142KB Image download
Fig. 4 181KB Image download
【 图 表 】

Fig. 4

Fig. 6

【 参考文献 】
  • [1]
  • [2]
  • [3]
  • [4]
  • [5]
  • [6]
  • [7]
  • [8]
  • [9]
  • [10]
  • [11]
  • [12]
  • [13]
  • [14]
  • [15]
  • [16]
  • [17]
  • [18]
  • [19]
  • [20]
  • [21]
  • [22]
  • [23]
  • [24]
  • [25]
  • [26]
  • [27]
  • [28]
  • [29]
  • [30]
  • [31]
  • [32]
  • [33]
  • [34]
  • [35]
  • [36]
  • [37]
  • [38]
  • [39]
  • [40]
  • [41]
  • [42]
  • [43]
  • [44]
  • [45]
  • [46]
  • [47]
  • [48]
  • [49]
  文献评价指标  
  下载次数:1次 浏览次数:0次