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| 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 |
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| Cite this article: |
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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.
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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.
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Received: 07 August 2023
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. [J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2021, 51(4): 330-331. |
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