The clinical utility of expanded non-invasive prenatal testing in chromosomal microdeletion and microduplication syndromes
LYU Xiaoxiao, LI Huanzheng, TANG Shaohua.
Department of Clinical Laboratory Medicine, the Dingli Clinical Institute of Wenzhou Medical University, Wenzhou Central Hospital, Wenzhou 325000, China
LYU Xiaoxiao,LI Huanzheng,TANG Shaohua.. The clinical utility of expanded non-invasive prenatal testing in chromosomal microdeletion and microduplication syndromes[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2023, 53(10): 825-829.
Abstract：Objective: To investigate the clinical utility of expanded non-invasive prenatal testing (NIPTplus) in screening for chromosomal microdeletion and microduplication syndromes (MMS) in fetuses. Methods: A total of 5 027 pregnant women who underwent NIPT-plus testing at Wenzhou Central Hospital from January 2020 to June 2023 were included in this study. Among them, 54 pregnant women with NIPT-plus results indicating high risk for MMS were recommended to undergo amniocentesis for chromosome microarray analysis (CMA) to assess the detection performance in high-risk MMS pregnancy. Results: Of all the pregnant women, those aged >35 years accounted for 42.59% (2 141/5 027). The NIPT-plus results revealed 54 cases with high risk for MMS yielding a positive rate of 1.07% (54/5 027), of which pregnant women aged >35 years accounting for 44.45% (24/54). Altogether 35 pregnant women underwent invasive prenatal diagnosis, of which 14 cases were confirmed as MMS, with a positive predictive value of 40% (14/35). Additionally, two cases showed discordance between CMA results and NIPT-plus results, and seven pregnant women chose to terminate the pregnancy after genetic counseling. Conclusion: NIPT-plus demonstrated a relatively high positive predictive value in screening for high-risk MMS pregnancies.
