Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea
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Objective To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, andsex-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. NIPTresults 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. Basedon NIPT, eight cases of fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified. For T21 andT18, the sensitivity and specificity of NIPT were both 100%, with a false-positive and false-negative rate of 0% and apositive-predictive value of 100%. One patient classified as having intermediate risk for T13 by NIPT was confirmedto have T13 by karyotyping, and there were no false-negative cases. No cases of sex-chromosome anomalies weredetected 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, furtherprospective studies are necessary to confirm its utility.
Abstract
Objective To evaluate the performance of Momguard, non-invasive prenatal test (NIPT) for detecting trisomy (T) 21, T18, T13, andsex-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. NIPTresults 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. Basedon NIPT, eight cases of fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified. For T21 andT18, the sensitivity and specificity of NIPT were both 100%, with a false-positive and false-negative rate of 0% and apositive-predictive value of 100%. One patient classified as having intermediate risk for T13 by NIPT was confirmedto have T13 by karyotyping, and there were no false-negative cases. No cases of sex-chromosome anomalies weredetected 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, furtherprospective studies are necessary to confirm its utility.
참고문헌 (18)
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