Expert Review of Molecular Diagnostics ( IF 3.9 ) Pub Date : 2023-03-23 , DOI: 10.1080/14737159.2023.2193291 Yanmei Luo 1 , Bin Hu 1 , Yang Long 1 , Yan Pan 1 , Lupin Jiang 1 , Wei Xiong 1 , Huanhuan Xu 1 , Liang Xu 1 , Dan Wang 1
ABSTRACT
Objectives
To evaluate the clinical efficiency of noninvasive prenatal testing (NIPT) for fetal chromosomal aneuploidy screening in twin pregnancies.
Methods
A total of 1650 women with twin pregnancies were enrolled in the study, which underwent NIPT at the Southwest Hospital, Army Medical University, Chongqing, China from January 2013 to June 2022. Fetal karyotyping analysis was conducted in high-risk patients, with subsequent follow-up on pregnancy outcomes.
Results
In 1650 pregnancies, NIPT results showed ten cases of the fetal chromosome aneuploidy, of which six cases were true positive and four cases were false positive. The sensitivity, specificity, positive predictive value (PPV), and false-positive rate (FPR) of trisomy 21 were 100%, 99.79%, 57.14%, and 0.18%, respectively. Sensitivity, specificity, PPV, and FPR of trisomy 18 were 100%, 99.94%, 50%, and 0.06%, respectively. The sensitivity, specificity, PPV, and FPR of trisomy 13 were 100%, 100%, 100%, and 0%, respectively. No false negatives were detected and the negative predictive value (NPV) was 100% of the total. Eleven pregnancies failed the NIPT test with no-call due to the low fetal fraction (< 4%).
Conclusions
NIPT is a high-performing routine primary prenatal screening test in twin pregnancies, with high sensitivity and specificity in screening for fetal aneuploidy.