Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Sci Rep. 2024 Nov 22;14(1):29011. doi: 10.1038/s41598-024-78724-5.
This study aimed to investigate the serum biochemical markers' propensity associated with sex chromosome abnormalities (SCAs) and assess the clinical efficacy of SCAs in serum biochemical screening during the second trimester. A retrospective case-control analysis was conducted on pregnant women who underwent serum biochemical screening during the second trimester. The study compared groups of women with SCAs to those with normal chromosome karyotypes to assess changes in biochemical markers. We analysed and compared the performance of serum biochemical screening in each SCA group. The results showed that the alterations in serum biochemical markers varied among the different SCA groups. Typically, the serum biochemical markers of fetal SCAs were either above the 95th percentile or below the 5th percentile. The proportions of high- and intermediate-risk findings for 45,X, 47,XXX, 47,XXY, 47,XYY, and mosaic sex chromosomal abnormalities were 43.48%, 78.95%, 63.89%, 70.59%, and 78.13%, respectively. Besides detecting fetal trisomy 21 and trisomy 18, the current contingent screening procedures may also accidentally identify various fetal SCAs at a rate of 69.18%.
本研究旨在探讨与性染色体异常（SCAs）相关的血清生化标志物倾向，并评估在妊娠中期进行血清生化筛查时 SCAs 的临床效果。对在妊娠中期进行血清生化筛查的孕妇进行了回顾性病例对照分析。本研究将性染色体异常组与正常染色体核型组进行比较，以评估生化标志物的变化。我们分析并比较了每个 SCA 组的血清生化筛查性能。结果表明，不同 SCA 组的血清生化标志物变化不同。通常，胎儿性染色体异常的血清生化标志物要么高于第 95 百分位，要么低于第 5 百分位。45,X、47,XXX、47,XXY、47,XYY 和镶嵌性性染色体异常的高风险和中风险发现的比例分别为 43.48%、78.95%、63.89%、70.59%和 78.13%。除了检测胎儿三体 21 和三体 18 外，当前的联合筛查程序还可能以 69.18%的偶然率意外识别各种胎儿 SCA。
