More attention should be paid to pregnant women who fail non-invasive prenatal screening

Zhang, Bin; Zhou, Li-Na; Feng, Chuanshou; Li, Jianbing; Yu, Bin

doi:10.1016/j.clinbiochem.2021.07.004

Cited by 5 publications

(6 citation statements)

References 37 publications

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“…The FPR for retests was 10.09% (10.09%, 11/109), and in the reportable results group, it was 0% (0%, 0/168). This result suggested that the FPR of the no-call group was higher than that of the reportable results group, which is in line with a previous study [ 5 , 32 ]. However, the FPR of the retests in this study was higher than that reported (10.09% vs. 3.65%).…”

Section: Discussionsupporting

confidence: 92%

“…This nonconformity may also be due to the different definitions of cfDNA test failure or no-call test results. According to Zhang et al, a no-call test result was considered when the concentration of cfDNA was > 0.7 ng/µL [ 32 ]. They pointed out that if a no-call test result was caused by a high cfDNA concentration, the second test may fail to obtain a result, thus avoiding reaching a false-positive result to a certain extent.…”

Section: Discussionmentioning

confidence: 99%

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Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result

Qian

Chen

et al. 2023

Mol Biol Rep

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Background Determining the reasons for unreportable or no-call cell-free DNA (cfDNA) test results has been an ongoing issue, and a consensus on subsequent management is still lacking. This study aimed to explore potential factors related to no-call cfDNA test results and to discuss whether retest results are reliable. Methods and results This was a retrospective study of women with singleton pregnancies undergoing cfDNA testing in 2021. Of the 9871 pregnant patients undergoing cfDNA testing, 111 had a no-call result, and their results were compared to those of 170 control patients. The no-call rate was 1.12% (111/9871), and the primary cause for no-call results was data fluctuation (88.29%, 98/111). Medical conditions were significantly more frequent in the no-call group than in the reportable results group (P < 0.001). After retesting, 107 (107/111, 96.40%) patients had a result, and the false-positive rate (FPR) of retesting was 10.09% (10.09%, 11/109). In addition, placental lesions were more frequent in the no-call group than in the reportable results group (P = 0.037), and 4 patients, all in the no-call group, experienced pregnancy loss. Conclusions Pregnant women with medical conditions are more likely to have a no-call result. A retest is suggested for patients with a no-call result, but retests have a high FPR. In addition, pregnant women with a no-call result are at increased risk of adverse pregnancy outcomes. In conclusion, more attention should be given to pregnant women for whom a no-call cfDNA result is obtained.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result

Qian

Chen

et al. 2023

Mol Biol Rep

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“…[34][35][36] nonreportable cfDNA test, particularly when due to a low FF, has been associated with some adverse perinatal outcomes, such as preeclampsia and preterm birth. [44][45][46][47][48][49] Importantly, many maternal comorbidities, such as elevated BMI, are associated with these same outcomes, but in studies adjusted for these variables, there continues to be an increased risk. 36 High FF has been less frequently reported.…”

Section: Nonreportable Cfdna Resultsmentioning

confidence: 99%

“…44,50 Finally, not all test failures occur due to low FF; some nonreportable tests result from the inability to interpret the sequencing results and inconclusive data. [51][52][53] This can occur due to changes in the maternal genome (eg, malignancy), a vanishing twin, high sequencing variation, or the presence of complex or multiple fetal or placental genomic variants (see Chapter 6).…”

Section: Nonreportable Cfdna Resultsmentioning

confidence: 99%

“…Fetal cfDNA arises from apoptosis of placental trophoblasts, therefore the quantity of cfDNA, or FF can reflect placental growth and function 42,43 . A nonreportable cfDNA test, particularly when due to a low FF, has been associated with some adverse perinatal outcomes, such as preeclampsia and preterm birth 44–49 . Importantly, many maternal comorbidities, such as elevated BMI, are associated with these same outcomes, but in studies adjusted for these variables, there continues to be an increased risk 36…”

Section: Low Ff and Adverse Pregnancy Outcomesmentioning

confidence: 99%

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Cell-free DNA Screening for Aneuploidy

Norton

2023

Clinical Obstetrics &Amp; Gynecology

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Cell-free DNA (cfDNA) screening has high detection for the common fetal autosomal aneuploidies, but is not diagnostic. The positive predictive value should be utilized in counseling after a positive cell-free DNA screen, and diagnostic testing should be offered for confirmation. cfDNA screening does not report a result in ~3% of cases; nonreportable results indicate an increased risk for aneuploidy and some adverse perinatal outcomes. False-positive cfDNA screening occurs due to confined placental mosaicism, maternal copy number variants, mosaicism, and cancer. Pretest education and counseling should be provided with emphasis on the potential benefits, risks, and limitations before cfDNA screening.

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Association of fetal fraction and cell‐free fetal DNA with adverse pregnancy outcomes: A systematic review

Chen,

Wang,

Wang

et al. 2024

Intl J Gynecology & Obste

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BackgroundAdverse pregnancy outcomes, which can be caused by multiple factors, present a significant threat to the health of mothers and their babies. Cell‐free fetal DNA (cffDNA) from placental trophoblast cells might be able to reflect placental and fetal status. Previous studies have yielded controversial results regarding the association of FF or cffDNA with various adverse pregnancy outcomes. A previous study has attempted to systematically assess the association between low fetal fraction (FF) and adverse pregnancy outcomes, but it failed to perform quantitative analyses due to the few studies included. In the present study, we attempted to quantitatively assess the association of FF (or cffDNA) with adverse pregnancy outcomes and further analyze the causes of heterogeneity.ObjectivesTo investigate the association of high/low FF or cffDNA with adverse pregnancy outcomes.Search StrategyWe searched the databases of PubMed, Embase, Cochrane, and Web of Science from January 1, 1990, to June 15, 2022 in this meta‐analysis.Selection CriteriaStudies on the relationships of adverse pregnancy outcomes in women with FF or cell free DNA were included. Non‐English literature was excluded.Data Collection and AnalysisData about pregnancy outcomes and cell free DNA were extracted and meta‐analyzed. Subgroup analysis was performed by different outcomes.Main ResultsThere were 11 studies included involving 8280 participants. No significant heterogeneity was observed among the studies (I2 = 27%, 25%), and a fixed‐effect model was used for weighted quantitative analysis. The results revealed that the FF or cffDNA during pregnancy was significantly associated with adverse pregnancy outcomes in pregnant women (OR = 1.57, 95% CI [1.24, 1.99], P = 0.233). The overall incidence of the maternal adverse outcomes was 8% (95% CI: 5–13). Subgroup analysis of different outcomes showed an evident association between low FF or cffDNA and hypertensive disorders of pregnancy (HDP) (OR = 1.76, 95% CI [1.36, 2.27], P = 0.581). There was no evidence that the occurrence of spontaneous preterm birth (sPTB) and placental abnormality was associated with FF or cffDNA. No association was observed between low FF or cffDNA during pregnancy and adverse outcomes in fetuses (OR = 1.39, 95% CI [0.99, 1.94], P = 0.242). The overall incidence of adverse outcomes in fetuses was 8% (95% CI: 6–11). There were controversies over the association between high FF or cffDNA and HDP, and sPTB and small for gestational age infant, among different studies.ConclusionsPregnant women with low FF or cffDNA during the first or second trimester of pregnancy have an overall increased risk of adverse pregnancy outcomes, especially HDP. However, the association between FF and various pregnancy outcomes needs to be further explored by more prospective studies.

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More attention should be paid to pregnant women who fail non-invasive prenatal screening

Cited by 5 publications

References 37 publications

Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result

Analysis of retest reliability for pregnant women undergoing cfDNA testing with a no-call result

Cell-free DNA Screening for Aneuploidy

Association of fetal fraction and cell‐free fetal DNA with adverse pregnancy outcomes: A systematic review

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