Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs

Molecular Cytogenetics

Research

Siqi Hu¹  Ying Hao¹  Weiqing Wu¹  Liyuan Chen¹  Yong Xu¹  Zhiyong Xu¹  Hu Zhang¹  Liyanyan Deng² 

[1] Medical Genetics Center, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China;Peripheral Vascular Ward (Cardiac Surgery Ward 1), Fuwai Hospital Chinese Academy of Medical Sciences, Shenzhen, Guangdong, China;

关键词: Non-invasive prenatal testing (NIPT);    Nuchal translucency (NT);    Chromosomal diagnostic testing;    Chromosomal aberrations;    Residual risk;   

DOI  :  10.1186/s13039-023-00661-1

 received in 2023-07-28, accepted in 2023-10-17,  发布年份 2023

来源: Springer

【 摘 要 】

ObjectiveTo investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT).MethodsThe study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT. Results of NT, NIPT, chromosomal diagnostic and pregnancy outcomes were collected.ResultsStudy group was composed of 1470 single pregnancies, including 864 with NT 2.5–2.9 mm, 350 with NT 3.0–3.4 mm and 256 with NT ≥ 3.5 mm. Non-significant differences were found in the positive predictive value (PPV) of NIPT between different cutoffs of NT. There was one false positive case with NT 4.3 mm, screening for 47,XYY in NIPT showed normal in diagnostic testing. For cases with normal NIPT results, the residual risk is 1:20 (5%, 95%CI: 0.1–10.1%) in fetuses with NT 3.0–3.4 mm and 1:15 (6.5%, 95%CI: 1.4%-11.5%) in fetuses with NT ≥ 3.5 mm. These false negative cases included one trisomy 21, seven pathogenic CNVs, one uniparental disomy and one single gene disorders.ConclusionOur findings demonstrated that the PPV of NIPT for screening chromosomal aberrations were similarly in different NT cutoffs, while false positive case does exist. After normal in NIPT, risk for chromosomal aberrations remained, especially pathogenic CNV and even common trisomy. Therefore, prenatal diagnosis was recommended and CMA was suggested to apply in pregnancies with NT ≥ 3.0 mm.

【 授权许可】

CC BY   
© The Author(s) 2023

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