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Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea

OBJECTIVE: To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. METHODS: This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center...

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Autores principales: Lee, Mi-Young, Cho, Dae-Yeon, Won, Hye-Sung, Hwang, Ah Reum, Jeong, Bada, Kim, Jihun, Oh, Mijin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Obstetrics and Gynecology; Korean Society of Contraception and Reproductive Health; Korean Society of Gynecologic Endocrinology; Korean Society of Gynecologic Endoscopy and Minimal Invasive Surgery; Korean Society of Maternal Fetal Medicine; Korean Society of Ultrasound in Obstetrics and Gynecology; Korean Urogynecologic Society 2015
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588837/
https://www.ncbi.nlm.nih.gov/pubmed/26430657
http://dx.doi.org/10.5468/ogs.2015.58.5.340
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author Lee, Mi-Young
Cho, Dae-Yeon
Won, Hye-Sung
Hwang, Ah Reum
Jeong, Bada
Kim, Jihun
Oh, Mijin
author_facet Lee, Mi-Young
Cho, Dae-Yeon
Won, Hye-Sung
Hwang, Ah Reum
Jeong, Bada
Kim, Jihun
Oh, Mijin
author_sort Lee, Mi-Young
collection PubMed
description OBJECTIVE: To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. METHODS: This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center, Seoul, Korea. Only pregnant women who underwent both NIPT and confirmatory karyotyping were included in this study. NIPT results were compared with those of karyotype analyses. RESULTS: Among 93 eligible cases, NIPT results could not be obtained in one case due to a low fetal cell-free DNA fraction. Based on NIPT, eight cases of fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified. For T21 and T18, the sensitivity and specificity of NIPT were both 100%, with a false-positive and false-negative rate of 0% and a positive-predictive value of 100%. One patient classified as having intermediate risk for T13 by NIPT was confirmed to have T13 by karyotyping, and there were no false-negative cases. No cases of sex-chromosome anomalies were detected by NIPT or karyotyping during the study period. CONCLUSION: Momguard is a reliable screening tool for detecting T21 and T18. For T13 and sex-chromosome anomalies, further prospective studies are necessary to confirm its utility.
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spelling pubmed-45888372015-10-01 Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea Lee, Mi-Young Cho, Dae-Yeon Won, Hye-Sung Hwang, Ah Reum Jeong, Bada Kim, Jihun Oh, Mijin Obstet Gynecol Sci Original Article OBJECTIVE: To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, and sex-chromosome abnormalities recently developed in Korea. METHODS: This preliminary study formed part of a large prospective cohort study conducted at Asan Medical Center, Seoul, Korea. Only pregnant women who underwent both NIPT and confirmatory karyotyping were included in this study. NIPT results were compared with those of karyotype analyses. RESULTS: Among 93 eligible cases, NIPT results could not be obtained in one case due to a low fetal cell-free DNA fraction. Based on NIPT, eight cases of fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified. For T21 and T18, the sensitivity and specificity of NIPT were both 100%, with a false-positive and false-negative rate of 0% and a positive-predictive value of 100%. One patient classified as having intermediate risk for T13 by NIPT was confirmed to have T13 by karyotyping, and there were no false-negative cases. No cases of sex-chromosome anomalies were detected by NIPT or karyotyping during the study period. CONCLUSION: Momguard is a reliable screening tool for detecting T21 and T18. For T13 and sex-chromosome anomalies, further prospective studies are necessary to confirm its utility. Korean Society of Obstetrics and Gynecology; Korean Society of Contraception and Reproductive Health; Korean Society of Gynecologic Endocrinology; Korean Society of Gynecologic Endoscopy and Minimal Invasive Surgery; Korean Society of Maternal Fetal Medicine; Korean Society of Ultrasound in Obstetrics and Gynecology; Korean Urogynecologic Society 2015-09 2015-09-22 /pmc/articles/PMC4588837/ /pubmed/26430657 http://dx.doi.org/10.5468/ogs.2015.58.5.340 Text en Copyright © 2015 Korean Society of Obstetrics and Gynecology http://creativecommons.org/licenses/by-nc/3.0/ Articles published in Obstet Gynecol Sci are open-access, distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Lee, Mi-Young
Cho, Dae-Yeon
Won, Hye-Sung
Hwang, Ah Reum
Jeong, Bada
Kim, Jihun
Oh, Mijin
Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea
title Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea
title_full Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea
title_fullStr Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea
title_full_unstemmed Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea
title_short Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea
title_sort performance of momguard, a new non-invasive prenatal testing protocol developed in korea
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588837/
https://www.ncbi.nlm.nih.gov/pubmed/26430657
http://dx.doi.org/10.5468/ogs.2015.58.5.340
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