Factors associated with obtaining results on repeat cell-free DNA testing in samples redrawn due to insufficient fetal fraction

White, Karen; Wang, Yunwei; Kunz, Liza; Schmid, Maximilian

doi:10.1080/14767058.2019.1594190

Cited by 11 publications

(12 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In contrast to our results, several previous studies showed that the time interval between two blood draws was positively related to the success rate of a second NIPS [16,18] . A possible explanation for this discrepancy is that in the present study, more than half of the women underwent their first NIPS in the second trimester, which is in accordance with the NIPS guideline in China.…”

Section: Discussioncontrasting

confidence: 99%

Two factors affecting the success rate of the second non-invasive prenatal screening after initial no-call result: experience from a single tertiary center in China

Lin

Liu

et al. 2021

Chinese Medical Journal

View full text Add to dashboard Cite

Background: One inevitable shortcoming of non-invasive prenatal screening (NIPS)/cell-free DNA (cfDNA) sequencing is the uninterpretable (“no-call”) result, which is mainly caused by an insufficient fetal fraction. This study was performed to investigate the factors associated with a successful second NIPS in these cases and determine the optimal management for women with initial no-call results. Methods: We retrospectively analyzed the data of women who underwent NIPS with initial no-call results due to an insufficient fetal fraction from 2017 to 2019 in our center. We compared these women's maternal and pregnancy information with the data of women who had attained a successful second NIPS result and women who had received no-call results for a second time. Results: Among the 33,684 women who underwent NIPS, 137 with a no-call result underwent a retest. Comparison between the 87 (63.50%) women with a successful retest and the other 50 (36.50%) women showed a significant difference in both the initial fetal fraction and maternal body mass index (BMI), whereas the other factors showed no significant differences. In addition, with an initial fetal fraction of < 2.00%, the retest success rate was very limited. Conclusions: We identified two major factors associated with a successful NIPS retest: the initial fetal fraction and the maternal BMI. These findings suggest the need for specialized management for this subset of women and would be instructional for the counseling for these women.

show abstract

Section: Discussioncontrasting

confidence: 99%

Two factors affecting the success rate of the second non-invasive prenatal screening after initial no-call result: experience from a single tertiary center in China

Lin

Liu

et al. 2021

Chinese Medical Journal

View full text Add to dashboard Cite

show abstract

“…Ashoor et al also found an inverse relationship between the fetal fraction and the maternal body weight [24]. Other authors have shown an increase of no-call cases in the group of overweight and obese mothers compared to the normal weight group [25]. In our study, the subjects of the group of no-call cases had a higher body weight than the rest of the subjects under analysis, however, no statistically significant relationship was observed between them.…”

Section: Discussioncontrasting

confidence: 50%

The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region

et al. 2020

View full text Add to dashboard Cite

Background and objectives: Noninvasive prenatal testing (NIPT), which has been introduced clinically since 2011, uses the circulating cell-free fetal DNA in the maternal blood to evaluate the risk of a chromosomal anomaly. The aim of this study was to examine the effectiveness of NIPT using a single nucleotide polymorphism method. Materials and Methods: A retrospective study was conducted between 2013 and 2019. The Natera Panorama test was used to analyze the risk of trisomies 21, 18, 13, X monosomy, trisomy, and other sex chromosome abnormalities. A positive result of NIPT for aneuploidy was confirmed by invasive testing. Results: 850 women with a singleton pregnancy participated in the study. The median fetal fraction was 9.0%. The fetal fraction was lower in the no-call group (3.1%) compared with the group that received a call (9.1%) (p < 0.001). A positive correlation was determined between the gestational age and the fetal fraction (r = 0.180, p < 0.001). The overall positive predictive value (PPV) of NIPT for trisomy 21 (n = 9), trisomy 18 (n = 3) and XYY syndrome (n = 1) was 100%. Conclusions: The results of present study showed 100% PPV effectiveness of NIPT Panorama test detecting trisomies of 21 and 18 chromosomes, as well as XYY syndrome in the studied cohort. Therefore, NIPT due to its high PPV, significantly reduces the need for invasive testing, thereby reducing the risk of miscarriage and stillbirth.

show abstract

“…Factors related to a successful redraw in women with LFF were investigated by White et al. who found a higher probability for test success with a longer interval between blood sampling (+4% per day) and a lower probability for test success with a higher maternal weight (−1.2% per kilogram) 45 . Overall, a success rate of 53% on the second draw and a comparable rate on a third draw were found, similar to previous publications on redraw success rates 46,47 .…”

Section: Discussionmentioning

confidence: 99%

Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review

et al. 2021

View full text Add to dashboard Cite

Objective Low fetal fraction (LFF) in prenatal cell‐free DNA (cfDNA) testing is an important cause of test failure and no‐call results. LFF might reflect early abnormal placentation and therefore be associated with adverse pregnancy outcome. Here, we review the available literature on the relationship between LFF in cfDNA testing and adverse pregnancy outcome. Method A systematic literature search was conducted in MEDLINE and EMBASE up to November 1, 2020. Results Five studies met the criteria for inclusion; all were retrospective observational cohort studies. The cohort sizes ranged from 370 to 6375 pregnancies, with all tests performed in the first trimester or early second trimester. A 4% cutoff for LFF was used in two studies, two studies used the 5th and 25th percentiles, respectively, and one study used a variety of cutoff values for LFF. LFF in prenatal cfDNA testing was observed to be associated with hypertensive disease of pregnancy, small for gestational age neonates, and preterm birth. Conflicting results were found regarding the association between LFF and gestational diabetes mellitus. Conclusions LFF in cfDNA testing is associated with adverse pregnancy outcome,specifically pregnancy‐related hypertensive disorders, preterm birth, and impaired fetal growth related to placental dysfunction. Since the available evidence is limited, a large prospective cohort study on the relationship between fetal fraction and pregnancy outcomes is needed.

show abstract

Factors associated with obtaining results on repeat cell-free DNA testing in samples redrawn due to insufficient fetal fraction

Abstract: Factors associated with obtaining results on repeat cell-free DNA testing in samples redrawn due to insufficient fetal fraction,

Cited by 11 publications

References 22 publications

Two factors affecting the success rate of the second non-invasive prenatal screening after initial no-call result: experience from a single tertiary center in China

Two factors affecting the success rate of the second non-invasive prenatal screening after initial no-call result: experience from a single tertiary center in China

The Level of Free Fetal DNA as Precise Noninvasive Marker for Chromosomal Aneuploidies: First Results from BALTIC Region

Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review

Contact Info

Product

Resources

About