A Retrospective Analysis Of Different Contingent Screening Models For Fetal Down Syndrome In Southwestern China

Luo, Wei; He, Bin; Han, Daiwen; Yuan, Li-Xing; Chen, Xinlian; Pang, Ling; Tang, Jun; Zou, Fene; Zhao, Kai; Du, Yepei; Liu, Hongqian

doi:10.1038/s41598-020-66320-2

Cited by 8 publications

(10 citation statements)

References 32 publications

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“…Estudios iniciales no tomaban en cuenta la presencia de sacos linfoides (6). No obstante, un estudio posterior demostró que este saco se extendía a toda la LCC, y, si existía un septo en su interior, podía ser definido como un saco linfático; y si estaba presente, su interpretación debía ser diferente (7). Otro estudio sobre la presencia de tabiques dentro de los quistes en la nuca fetal demostró que solo el grosor de la TN fetal, y no su longitud, era predictor de aneuploidías (28).…”

Section: Imagen Y Medición De La Translucencia Nucal Fetalunclassified

“…Durante el primer trimestre del embarazo, una de las evaluaciones ecográficas más útiles para el cribado de aneuploidías fetales es la translucencia nucal (TN) para el síndrome de Down (SdD) (6,7). Durante el primer trimestre del embarazo, al combinarla con marcadores bioquímicos maternos para detección de aneuploidías, esta precisión aumenta hasta aproximadamente 90 % (con una tasa de falsos positivos de 5 %) (7 -9).…”

Section: Introductionunclassified

“…Durante el primer trimestre del embarazo, al combinarla con marcadores bioquímicos maternos para detección de aneuploidías, esta precisión aumenta hasta aproximadamente 90 % (con una tasa de falsos positivos de 5 %) (7 -9). En la evaluación ecográfica prenatal, al permitir el diagnóstico del SdD en una edad gestacional más precoz, comparada con las pruebas bioquímicas, la importancia de la TN es cada vez más prominente (4,7,10). El objetivo de este artículo fue revisar la evidencia actual disponible sobre la importancia clínica de la evaluación ecográfica de la TN fetal.…”

Section: Introductionunclassified

“…La frecuencia de falsos positivos fue de 5 %. A la semana 11 de embarazo, en forma específica, la prueba de detección combinada (TN más pruebas bioquímicas) resultó ser superior a la prueba cuádruple (tasa de detección del 83 %, con frecuencia de falsos positivos del 5 %)(7).Durante el primer trimestre del embarazo, la prueba de detección combinada con marcadores bioquímicos, también puede establecer el riesgo de otras anomalías cromosómicas diferentes al SdD. Comparados con fetos normales, las concentraciones séricas de β-hCG y PAPP-A de fetos con trisomía 18 (síndrome de Edward) y trisomía 13 (síndrome de Patau) son más bajas.…”

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Importancia clínica de la evaluación ecográfica de la translucencia nucal fetal

Briceño-Pérez¹,

Briceño-Sanabria²

2022

RSOGV

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Nuchal translucency is the hypoechoic region of subcutaneous fluid accumulation at the back of the fetal neck, at the level of the cervical spine, between the skin and soft tissues. Its measurement during the first trimester is part of the prenatal screening protocol for trisomies 21, 18 and 13. Between 11-13.6 weeks of gestation, its increase above the 95th percentile places the fetus at greater risk of congenital chromosomal and structural abnormalities. The individual measurement of nuchal translucency is a partially effective detection tool but its combination with biochemical markers increases its ability to predict the risk of Down syndrome and other fetal alterations. In cases of fetuses without aneuploidies, their increase is associated with adverse results. The objective of this article was to review the current evidence on the clinical significance of ultrasound assessment of fetal nuchal translucency. Keywords: Fetal nuchal translucency, Ultrasound, Fetal aneuploidies, Chromosomopathies, Congenital heart anomalies, Prenatal high risk, Prenatal diagnosis

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Section: Imagen Y Medición De La Translucencia Nucal Fetalunclassified

Section: Introductionunclassified

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Importancia clínica de la evaluación ecográfica de la translucencia nucal fetal

Briceño-Pérez¹,

Briceño-Sanabria²

2022

RSOGV

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“…Patients in the intermediate screening risk category, i.e., 1:250 up to 1:1000, are offered a more sensitive DNA-based noninvasive prenatal screening (NIPS), which detects the possibility of DS in fetal cells circulating in maternal blood. However, a costly model may prevent the purpose of irrelevant invasive tests [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Biochemical Serum Markers Influencing Maternal Age Risk for Down's Syndrome in Quadruple Marker

Quresh.¹,

Dharavath²

2022

Cureus

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Objective: Maternal age is the primary risk factor associated with Down syndrome (DS) in the fetus. Biochemical serum markers in maternal screenings have improved DS detection rates in prenatal screenings. However, there is a dilemma regarding which age group should undergo preliminary noninvasive screening before undergoing invasive diagnostic procedures. Based on recommendations, all pregnancies are at risk of chromosomal abnormalities. While all women should be offered screenings, those over 35 are mainly offered an invasive diagnostic procedure, and serum screening tests are of little benefit for this age group. This study evaluated the maternal serum screening population and the significance of the final screen positivity rate in the risk group aged above 35 years. Method: An observational retrospective study was conducted on a cohort of pregnancies in the second trimester (14-20 weeks and 6 days of gestation) over a period of one year. The quadruple test consisted of serum alpha-fetoprotein (AFP), free beta hCG, unconjugated estriol e3 (Ue3), and inhibin-A. The risk for DS was calculated using software with corrections for ethnicity, smoking, weight, and age. We compared the age risk for DS with the biochemical risk. Statistical analysis was done using McNemar’s test to test the proportion of screen-positive (SP) cases between the two calculation methods, i.e., age alone versus final risk calculation with biomarkers. Results: The proportion of SP cases from age risk and final risk were 56.3% and 12.6%, respectively. The computed McNemar’s chi-square test statistic was 97.959 (p < 0.001), which showed a significant reduction in SP cases when biomarkers were added to screen for trisomy 21 women aged >35 years. Conclusion: The age risk of DS increased with increasing maternal age. Notably, the final biochemical risk in this population was significantly lower. Consequently, we proposed that a noninvasive serum screening be used to screen all age groups to rule out negative screen cases before subjecting them to invasive procedures.

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The value of combined detailed first-trimester ultrasound–biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing

Ye,

Duan,

Liu

et al. 2023

Arch Gynecol Obstet

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Purpose This study aimed to investigate the performance, cost-effectiveness and additional findings of combined detailed ultrasound and biochemical screening for risks of major fetal trisomies in the first-trimester. Methods This is a retrospective analysis study, we estimated the risk of trisomies 21, 18 and 13 based on maternal age, fetal nuchal translucency thickness, nasal bone, ductus venosus pulsatility index velocity, tricuspid regurgitation, fetal heart rate, free beta-human chorionic gonadotropin, and pregnancy-associated plasma protein A in singleton pregnant women, and performed non-invasive prenatal testing for women with risks of trisomy 21 between 1:500 and 1:300. Invasive diagnostic testing was performed for women with positive or failed non-invasive prenatal testing result and in the high-risk group of this screening method. The direct costs were compared between this strategy and the non-invasive prenatal testing which alone used as first-line screening for all pregnant women. Results Among 25,155 singleton pregnant women who underwent screening, 24,361 were available for analysis, of these, 194 cases underwent non-invasive prenatal testing. Among the 24,361 women, 39, 19, and 7 had trisomies 21, 18 and 13, respectively. The use of this strategy could potentially detect approximately 94.87% of trisomy 21 cases, 100% of trisomy 18 cases, and 100% of trisomy 13 cases, with false-positive rates of 2.49%, 0.41%, and 0.49%, respectively. The overall detection rate and overall false-positive rates were 96.92% and 2.52%, respectively. The detection rate was 100% in the advanced age group and 94.12% in the general age group. Additionally, structural abnormalities were detected in 137 fetuses, and 44 fetuses had other chromosomal abnormalities. The total cost of this strategy was $3,730,843.30, and the cost per person tested was $153.15. The total cost of using non-invasive prenatal testing as the first-line strategy would be $6,813,387.04 and the cost per person tested was $279.68. Conclusions Our strategy is an efficient and cost-effective approach for detecting major trisomies and identifying more fetuses with a potential abnormality. Therefore, this strategy is a valuable screening method and highly feasible in the clinical setting.

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A Retrospective Analysis Of Different Contingent Screening Models For Fetal Down Syndrome In Southwestern China

Cited by 8 publications

References 32 publications

Importancia clínica de la evaluación ecográfica de la translucencia nucal fetal

Importancia clínica de la evaluación ecográfica de la translucencia nucal fetal

Biochemical Serum Markers Influencing Maternal Age Risk for Down's Syndrome in Quadruple Marker

The value of combined detailed first-trimester ultrasound–biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing

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