Effect of non-invasive prenatal testing on detection of sex chromosome aneuploidies and relevant ethical considerations
ZHANG Peng
MO Weiying
MENG Minghui
ZHANG Hongyan
Abstract：Objective To analyze the effect of non-invasive prenatal testing(NIPT)on detection of sex chromosome aneuploidies(SCAs)and to consider the relevant ethical issues.Methods The clinical data of 17 211 pregnant women who received genetic counseling and prenatal karyotype analysis in the People's Hospital of Guangxi Zhuang Autonomous Region from January 2005 to December 2023 were retrospectively analyzed.The changes in the detection rates of SCAs before and after implementation of NIPT,as well as the distribution of indications for SCAs in prenatal diagnosis were analyzed.The factors influencing the detection of 47,XXX were explored.The pregnancy options of pregnant women with different types of SCAs were summarized.Results Before implementation of NIPT(before 2015),the detection rate of SCAs was 0.35％(20/5 680),and the detection rate of 47,XXX was 0.07％(4/5 680).After implementation of NIPT,the detection rate of SCAs rose to 1.35％(156/11 531),and the detection rate of 47,XXX rose to 0.24％(28/11 531).The detection rates of 47,XXX from 2005 to 2023 were positively correlated with the total detection rate of SCAs(r=0.812,P＜0.001),the age of pregnant women(r=0.719,P＜0.001),and the detection quantity of NIPT(r=0.812,P＜0.001).Among the 152 pregnant women with prenatal diagnosis results of SCAs,high risk of NIPT was the main indication,accounting for 40.79％(62/152),followed by simple advanced age,accounting for 15.13％(23/152).A total of 134 pregnant women with SCAs were followed up,among whom 71 pregnant women(52.99％)chose the termination of pregnancy.Among the 71 pregnant women choosing the termination of pregnancy,the rate of termination of pregnancy in the pregnant women whose fetuses carried 47,XXX was the highest(70.83％,17/24),followed by that in the pregnant women whose fetuses carried 45,X(66.67％,22/33).Conclusion The implementation of NIPT significantly increases the detection rate of SCAs,but its application in screening and diagnosis involves complex ethical issues.Clinical genetic counseling service should be actively carried out to reduce unnecessary terminations of pregnancy due to the patients' cognitive biases.
Keywords：Non-invasive prenatal testing(NIPT)Sex chromosome aneuploidies(SC As)PregnancyEthics
Publication Date：2025-06-30
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 690-695 )