Obstet Gynecol Sci.  2015 Sep;58(5):340-345. 10.5468/ogs.2015.58.5.340.

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

• KMID: 2058456
• DOI: http://doi.org/10.5468/ogs.2015.58.5.340

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.

Keyword

Aneuploidy; Down syndrome; Patau syndrome; Prenatal diagnosis; Trisomy 18

MeSH Terms

Aneuploidy
Chungcheongnam-do
Cohort Studies
DNA
Down Syndrome
Female
Humans
Karyotype
Karyotyping
Korea*
Mass Screening
Pregnant Women
Prenatal Diagnosis
Prospective Studies
Sensitivity and Specificity
Seoul
Trisomy
DNA

Figure

• 

  Fig. 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.

• 

  Fig. 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.

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