Fraction Of Cell-free DNA Research Articles

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

ObjectiveTo 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.MethodsThis 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.ResultsAmong 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.ConclusionMomguard 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.

358: Relationship between 1st trimester fetal fraction of cell-free DNA from maternal plasma and preeclampsia in a large general pregnancy population

358: Relationship between 1st trimester fetal fraction of cell-free DNA from maternal plasma and preeclampsia in a large general pregnancy population

Fetal fraction of cell-free DNA in maternal plasma in the prediction of spontaneous preterm delivery.

To investigate whether, in pregnancies complicated by spontaneous preterm delivery, fetal fraction of cell-free DNA (cfDNA) in maternal plasma at 11-13 weeks' gestation is altered and if this measurement could be useful in the prediction of preterm delivery. Fetal fraction of cfDNA was measured at 10 + 0 to 13 + 6 weeks' gestation in 3169 pregnancies, 3066 (96.7%) that delivered at ≥ 37 weeks and 103 (3.3%) with spontaneous delivery at < 37 weeks, including 21 that delivered at < 34 weeks and 82 that delivered at 34-37 weeks. The measured fetal fraction was converted to multiples of the median (MoM), corrected for maternal characteristics and gestational age, and the Mann-Whitney U-test was used to determine the significance of differences in the median values in the spontaneous preterm delivery groups from that in the term delivery group. In the spontaneous preterm delivery groups (< 34 weeks' gestation, 34-37 weeks, < 37 weeks), compared to the term delivery group, there was no significant difference in the median fetal fraction MoM (1.004, 0.922 and 0.946, respectively, vs 1.015). Measurement of fetal fraction in maternal plasma at 11-13 weeks' gestation is not predictive of spontaneous preterm delivery.

ACOG approves new trisomy screen for high‐risk pregnancies

ACOG approves new trisomy screen for high‐risk pregnancies

Informatics-based, highly accurate, noninvasive prenatal paternity testing

Purpose:The aim of the study was to evaluate the diagnostic accuracy of an informatics-based, noninvasive, prenatal paternity test using array-based single-nucleotide polymorphism measurements of cell-free DNA isolated from maternal plasma.Methods:Blood samples were taken from 21 adult pregnant women (with gestational ages between 6 and 21 weeks), and a genetic sample was taken from the corresponding biological fathers. Paternity was confirmed by genetic testing of the infant, products of conception, control of fertilization, and/or preimplantation genetic diagnosis during in vitro fertilization. Parental DNA samples and maternal plasma cell-free DNA were amplified and analyzed using a HumanCytoSNP-12 array. An informatics-based method measured single-nucleotide polymorphism data, confirming or rejecting paternity. Each plasma sample with a sufficient fetal cell-free DNA fraction was independently tested against the confirmed father and 1,820 random, unrelated males.Results:One of the 21 samples had insufficient fetal cell-free DNA. The test correctly confirmed paternity for the remaining 20 samples (100%) when tested against the biological father, with P values of <10−4. For the 36,400 tests using an unrelated male as the alleged father, 99.95% (36,382) correctly excluded paternity and 0.05% (18) were indeterminate. There were no miscalls.Conclusion:A noninvasive paternity test using informatics-based analysis of single-nucleotide polymorphism array measurements accurately determined paternity early in pregnancy.