Developing and validating noninvasive prenatal testing for de novo autosomal dominant monogenic diseases in Vietnam.

IF 1.7 4区医学 Q3 PHARMACOLOGY & PHARMACY Personalized medicine Pub Date : 2023-09-01 Epub Date: 2023-08-25 DOI:10.2217/pme-2023-0076

Nhi Yen Nguyen, Y-Thanh Lu, Duy-Anh Nguyen, Canh-Chuong Nguyen, Linh Thuy Dinh, Minh-Thu Thi Tran, Danh-Cuong Tran, Lan-Anh Thi Luong, Kim-Phuong Doan, Vu Quoc Huy Nguyen, Thi Minh Thi Ha, Linh-Giang Thi Truong, Nhat-Thang Tran, Phuong Thi-Mai Cao, Vy Thi-Nhat Tran, Thu Huong Nhut Trinh, Quang Thanh Le, Van Thong Nguyen, Diem-Tuyet Thi Hoang, Son Ta Vo, My-Nhi Ba Nguyen, Chi-Thuong Bui, Son-Tra Thi Tran, Duc-Tam Lam, Hong-Thinh Le, My-Ngoc Ba Nguyen, Viet-Thang Ho, Minh-Trung Nguyen, Phuoc-Loc Doan, Kim-Van Thi Tran, Huyen-Trang Thi Tran, Uyen Vu Tran, An My Dinh, Thanh-Thanh Thi Nguyen, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Minh-Duy Phan, Hoai-Nghia Nguyen, Hung-Sang Tang, Hoa Giang

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引用次数: 1

Abstract

Background: Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions. Methods: NIPT-SGG with a 30-gene panel applied next-generation sequencing and trio assays to confirm de novo variants. Diagnostic tests confirmed NIPT-detected cases. Results: Among 93 pregnancies with ultrasound findings, 11 (11.8%) fetuses were screened and diagnosed with monogenic diseases, mostly with Noonan syndrome. NIPT-SGG determined >99.99% of actual positive and negative cases, confirmed by diagnostic tests. No false-negatives or false-positives were reported. Conclusion: NIPT-SGG effectively identifies the fetuses affected with monogenic diseases, which is a promisingly safe and timely antenatal screening option for high-risk pregnancies.

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开发和验证越南新发常染色体显性单基因疾病的无创产前检测。

背景：新生儿中超过60%的单基因疾病是常染色体显性变异。单基因条件下的无创产前检测（NIPT-SGG）具有成本效益和省时性，但应用并不广泛。本研究介绍并验证了NIPT-SGG在检测25种单基因条件下的作用。方法：NIPT-SGG和30个基因小组应用下一代测序和三重分析来确认新变异。诊断测试证实NIPT检测到病例。结果：在93例有超声检查结果的妊娠中，11例（11.8%）胎儿被筛查并诊断为单基因疾病，主要是努南综合征。NIPT-SGG确定了99.99%以上的实际阳性和阴性病例，并通过诊断测试进行了确认。没有假阴性或假阳性报告。结论：NIPT-SGG能有效识别单基因疾病胎儿，是高危妊娠安全、及时的产前筛查选择。

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来源期刊

Personalized medicine 医学-药学

CiteScore

3.30

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Personalized Medicine (ISSN 1741-0541) translates recent genomic, genetic and proteomic advances into the clinical context. The journal provides an integrated forum for all players involved - academic and clinical researchers, pharmaceutical companies, regulatory authorities, healthcare management organizations, patient organizations and others in the healthcare community. Personalized Medicine assists these parties to shape thefuture of medicine by providing a platform for expert commentary and analysis. The journal addresses scientific, commercial and policy issues in the field of precision medicine and includes news and views, current awareness regarding new biomarkers, concise commentary and analysis, reports from the conference circuit and full review articles.