Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities

Linjuan Su, Xiaoqing Wu, Na Lin, Xiaorui Xie, Meiying Cai, Meiying Wang, Lin Zheng, Liangpu Xu Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Me...

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Autores principales:	Su L, Wu X, Lin N, Xie X, Cai M, Wang M, Zheng L, Xu L
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	nuchal translucency cutoff value invasive prenatal diagnosis chromosomal abnormalities first-trimester screening crown-rump length trisomy 21 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/38a7a66912734cb78411783a81dbd317
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spelling	oai:doaj.org-article:38a7a66912734cb78411783a81dbd3172021-11-18T19:40:25ZDifferent Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities1178-7074https://doaj.org/article/38a7a66912734cb78411783a81dbd3172021-11-01T00:00:00Zhttps://www.dovepress.com/different-cutoff-values-for-increased-nuchal-translucency-in-first-tri-peer-reviewed-fulltext-article-IJGMhttps://doaj.org/toc/1178-7074Linjuan Su, Xiaoqing Wu, Na Lin, Xiaorui Xie, Meiying Cai, Meiying Wang, Lin Zheng, Liangpu Xu Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, People’s Republic of ChinaCorrespondence: Liangpu Xu; Lin ZhengFujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, People’s Republic of ChinaEmail ipxiu304@126.com; zlin1536@126.comIntroduction: Increased nuchal translucency (NT) is closely related to an increased risk of chromosomal abnormalities. However, the criterion of increased NT for invasive prenatal diagnosis remains controversial, as the cutoff values are inconsistent among countries. This study was conducted to compare the various cutoff values of increased NT and calculate the incidence of chromosomal abnormalities to determine the predictive ability of these cutoff values in conventional chromosome analysis.Methods: A total of 3223 invasive samples with increased nuchal translucency (NT) or other non-ultrasound indications were collected from singleton pregnant women. Samples with isolated increased NT were divided into five groups based on the NT thickness: 909 samples in the NT ≥ 2.5 mm group, 819 samples in the NT ≥ 95th group, 547 samples in the NT ≥ 99th group, 527 samples in the NT ≥ 3.0 mm group, and 253 samples in the NT ≥ 3.5 mm group; 2301 samples with normal NT were considered as the control group. All five groups were karyotyped and the results were compared. The accuracy of the NT cutoff value for the screening of chromosomal abnormalities was assessed using receiver operating characteristic curve analysis.Results: Detection of all chromosomal aberrations and trisomy 21 showed that the sensitivity and false-positive rate decreased sequentially in the NT ≥ 2.5 mm, NT ≥ 95th, NT ≥ 3 mm, NT ≥ 99th, and NT ≥ 3.5 mm groups, whereas the specificity, positive predictive value, and false-negative rates increased sequentially. Comprehensive analysis of various factors, including sensitivity and specificity, revealed values equal to or higher than the calculated 95th percentile of NT distribution, which showed a sensitivity of 49.2% and specificity of 75.67% for detecting all aneuploidies and a sensitivity of 64% and specificity of 75.45% for trisomy 21, exhibiting the highest ability for the screening of chromosomal defects in first-trimester screening.Conclusion: For different thresholds of NT thickness, values equal to or higher than the calculated 95th percentile of the NT distribution showed the highest ability for the screening of chromosomal defects in first-trimester screening.Keywords: nuchal translucency, cutoff value, invasive prenatal diagnosis, chromosomal abnormalities, first-trimester screening, crown-rump length, trisomy 21Su LWu XLin NXie XCai MWang MZheng LXu LDove Medical Pressarticlenuchal translucencycutoff valueinvasive prenatal diagnosischromosomal abnormalitiesfirst-trimester screeningcrown-rump lengthtrisomy 21Medicine (General)R5-920ENInternational Journal of General Medicine, Vol Volume 14, Pp 8437-8443 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	nuchal translucency cutoff value invasive prenatal diagnosis chromosomal abnormalities first-trimester screening crown-rump length trisomy 21 Medicine (General) R5-920
spellingShingle	nuchal translucency cutoff value invasive prenatal diagnosis chromosomal abnormalities first-trimester screening crown-rump length trisomy 21 Medicine (General) R5-920 Su L Wu X Lin N Xie X Cai M Wang M Zheng L Xu L Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
description	Linjuan Su, Xiaoqing Wu, Na Lin, Xiaorui Xie, Meiying Cai, Meiying Wang, Lin Zheng, Liangpu Xu Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, People’s Republic of ChinaCorrespondence: Liangpu Xu; Lin ZhengFujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center, Fujian Provincial Maternity and Children’s Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, People’s Republic of ChinaEmail ipxiu304@126.com; zlin1536@126.comIntroduction: Increased nuchal translucency (NT) is closely related to an increased risk of chromosomal abnormalities. However, the criterion of increased NT for invasive prenatal diagnosis remains controversial, as the cutoff values are inconsistent among countries. This study was conducted to compare the various cutoff values of increased NT and calculate the incidence of chromosomal abnormalities to determine the predictive ability of these cutoff values in conventional chromosome analysis.Methods: A total of 3223 invasive samples with increased nuchal translucency (NT) or other non-ultrasound indications were collected from singleton pregnant women. Samples with isolated increased NT were divided into five groups based on the NT thickness: 909 samples in the NT ≥ 2.5 mm group, 819 samples in the NT ≥ 95th group, 547 samples in the NT ≥ 99th group, 527 samples in the NT ≥ 3.0 mm group, and 253 samples in the NT ≥ 3.5 mm group; 2301 samples with normal NT were considered as the control group. All five groups were karyotyped and the results were compared. The accuracy of the NT cutoff value for the screening of chromosomal abnormalities was assessed using receiver operating characteristic curve analysis.Results: Detection of all chromosomal aberrations and trisomy 21 showed that the sensitivity and false-positive rate decreased sequentially in the NT ≥ 2.5 mm, NT ≥ 95th, NT ≥ 3 mm, NT ≥ 99th, and NT ≥ 3.5 mm groups, whereas the specificity, positive predictive value, and false-negative rates increased sequentially. Comprehensive analysis of various factors, including sensitivity and specificity, revealed values equal to or higher than the calculated 95th percentile of NT distribution, which showed a sensitivity of 49.2% and specificity of 75.67% for detecting all aneuploidies and a sensitivity of 64% and specificity of 75.45% for trisomy 21, exhibiting the highest ability for the screening of chromosomal defects in first-trimester screening.Conclusion: For different thresholds of NT thickness, values equal to or higher than the calculated 95th percentile of the NT distribution showed the highest ability for the screening of chromosomal defects in first-trimester screening.Keywords: nuchal translucency, cutoff value, invasive prenatal diagnosis, chromosomal abnormalities, first-trimester screening, crown-rump length, trisomy 21
format	article
author	Su L Wu X Lin N Xie X Cai M Wang M Zheng L Xu L
author_facet	Su L Wu X Lin N Xie X Cai M Wang M Zheng L Xu L
author_sort	Su L
title	Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
title_short	Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
title_full	Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
title_fullStr	Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
title_full_unstemmed	Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities
title_sort	different cutoff values for increased nuchal translucency in first-trimester screening to predict fetal chromosomal abnormalities
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/38a7a66912734cb78411783a81dbd317
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Different Cutoff Values for Increased Nuchal Translucency in First-Trimester Screening to Predict Fetal Chromosomal Abnormalities

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