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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

Correlation between cell-free DNA (cfDNA) fraction and gestational age in 46 pregnancies with male fetuses (R2=0.1636, P<0.01). Unlike for male fetuses, for which Y chromosomes are effective markers, it is particularly difficult to quantitate the fetal fraction in female fetuses; there are no universal and reliable fetal markers available to estimate the fetal fraction in maternal plasma [15]. Therefore, cfDNA level was analyzed using only male fetuses.
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Figure 1: Correlation between cell-free DNA (cfDNA) fraction and gestational age in 46 pregnancies with male fetuses (R2=0.1636, P<0.01). Unlike for male fetuses, for which Y chromosomes are effective markers, it is particularly difficult to quantitate the fetal fraction in female fetuses; there are no universal and reliable fetal markers available to estimate the fetal fraction in maternal plasma [15]. Therefore, cfDNA level was analyzed using only male fetuses.

Mentions: Among 93 pregnant women who underwent both NIPT and karyotyping during the study period, NIPT sequencing was impossible in one case (sampling performed at 8.6 weeks of gestation) owing to an insufficient fraction of cfDNA (<0.5%). Therefore, 92 pregnant women were eligible for this preliminary study; demographic characteristics of the subjects are shown in Table 1. Four pregnant women were karyotyped before 10 weeks of gestation due to recurrent abortion. The cfDNA fraction was sufficient for sequence analysis in these four cases and there was a trend toward a higher cfDNA fraction with advanced gestational age (Fig. 1).


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)

Correlation between cell-free DNA (cfDNA) fraction and gestational age in 46 pregnancies with male fetuses (R2=0.1636, P<0.01). Unlike for male fetuses, for which Y chromosomes are effective markers, it is particularly difficult to quantitate the fetal fraction in female fetuses; there are no universal and reliable fetal markers available to estimate the fetal fraction in maternal plasma [15]. Therefore, cfDNA level was analyzed using only male fetuses.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: Correlation between cell-free DNA (cfDNA) fraction and gestational age in 46 pregnancies with male fetuses (R2=0.1636, P<0.01). Unlike for male fetuses, for which Y chromosomes are effective markers, it is particularly difficult to quantitate the fetal fraction in female fetuses; there are no universal and reliable fetal markers available to estimate the fetal fraction in maternal plasma [15]. Therefore, cfDNA level was analyzed using only male fetuses.
Mentions: Among 93 pregnant women who underwent both NIPT and karyotyping during the study period, NIPT sequencing was impossible in one case (sampling performed at 8.6 weeks of gestation) owing to an insufficient fraction of cfDNA (<0.5%). Therefore, 92 pregnant women were eligible for this preliminary study; demographic characteristics of the subjects are shown in Table 1. Four pregnant women were karyotyped before 10 weeks of gestation due to recurrent abortion. The cfDNA fraction was sufficient for sequence analysis in these four cases and there was a trend toward a higher cfDNA fraction with advanced gestational age (Fig. 1).

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