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

Lee MY, Cho DY, Won HS, Hwang AR, Jeong B, Kim J, Oh M - Obstet Gynecol Sci (2015)

Bottom Line: Among 93 eligible cases, NIPT results could not be obtained in one case due to a low fetal cell-free DNA fraction.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus

Interactive dot diagram for fetal aneuploidy. The Z-scores of chromosomes 21, 18 and 13 are represented on the Y-axis. The solid line represents the high risk cutoff value, and the dotted line represents the intermediate risk cutoff value for each aneuploidy test. T, trisomy.
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Figure 2: Interactive dot diagram for fetal aneuploidy. The Z-scores of chromosomes 21, 18 and 13 are represented on the Y-axis. The solid line represents the high risk cutoff value, and the dotted line represents the intermediate risk cutoff value for each aneuploidy test. T, trisomy.

Mentions: Based on cfDNA analysis, eight cases of high or intermediate risk for fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified (Fig. 2) and these results based on sequencing data were compared with karyotype results (Table 2). The five positive NIPT results for T21 were all confirmed by karyotyping; therefore, the sensitivity was 100% (95% confidence interval [CI], 47.95% to 100%), specificity was 100% (95% CI, 95.8% to 100%), FPR was 0%, FNR was 0%, and the positive-predictive value (PPV) was 100%. For T18, the sensitivity and specificity were also 100% (95% CI, 19.29% to 100% and 95.94% to 100%, respectively), the FPR and FNR were 0%, and PPV was 100%. For T13, only one case (case 8) exhibited intermediate risk based on NIPT, and this was confirmed to have T13 by karyotyping. No false-negative cases were observed. During the study period, no sex-chromosome anomalies were detected by NIPT or karyotyping in this cohort.


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

Lee MY, Cho DY, Won HS, Hwang AR, Jeong B, Kim J, Oh M - Obstet Gynecol Sci (2015)

Interactive dot diagram for fetal aneuploidy. The Z-scores of chromosomes 21, 18 and 13 are represented on the Y-axis. The solid line represents the high risk cutoff value, and the dotted line represents the intermediate risk cutoff value for each aneuploidy test. T, trisomy.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4588837&req=5

Figure 2: Interactive dot diagram for fetal aneuploidy. The Z-scores of chromosomes 21, 18 and 13 are represented on the Y-axis. The solid line represents the high risk cutoff value, and the dotted line represents the intermediate risk cutoff value for each aneuploidy test. T, trisomy.
Mentions: Based on cfDNA analysis, eight cases of high or intermediate risk for fetal aneuploidies, including T21 (n=5), T18 (n=2), and T13 (n=1), were identified (Fig. 2) and these results based on sequencing data were compared with karyotype results (Table 2). The five positive NIPT results for T21 were all confirmed by karyotyping; therefore, the sensitivity was 100% (95% confidence interval [CI], 47.95% to 100%), specificity was 100% (95% CI, 95.8% to 100%), FPR was 0%, FNR was 0%, and the positive-predictive value (PPV) was 100%. For T18, the sensitivity and specificity were also 100% (95% CI, 19.29% to 100% and 95.94% to 100%, respectively), the FPR and FNR were 0%, and PPV was 100%. For T13, only one case (case 8) exhibited intermediate risk based on NIPT, and this was confirmed to have T13 by karyotyping. No false-negative cases were observed. During the study period, no sex-chromosome anomalies were detected by NIPT or karyotyping in this cohort.

Bottom Line: Among 93 eligible cases, NIPT results could not be obtained in one case due to a low fetal cell-free DNA fraction.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

ABSTRACT

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.

No MeSH data available.


Related in: MedlinePlus