PDF(Pubmed)
Abstract：
OBJECTIVE: 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.
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.
摘要：
目的：本研究旨在调查绩效，结合详细超声和生化筛查的成本效益和其他发现，以评估妊娠早期主要胎儿三体的风险。
方法：这是一项回顾性分析研究，我们根据产妇年龄估计了21、18和13三体的风险，胎儿颈部半透明厚度，鼻骨,静脉导管搏动指数速度,三尖瓣反流,胎儿心率,游离β-人绒毛膜促性腺激素，和单胎孕妇的妊娠相关血浆蛋白A，并对21三体综合征风险在1:500至1:300之间的女性进行了非侵入性产前检测。对无创性产前检查结果阳性或失败的女性以及该筛查方法的高危人群进行有创诊断测试。比较了该策略与非侵入性产前检测之间的直接费用，后者仅用作所有孕妇的一线筛查。
结果：在25,155名接受筛查的单身孕妇中，24,361可用于分析，其中，194例接受了无创性产前检测。在24361名女性中，39、19和7分别具有三体21、18和13。使用这种策略可能会检测到大约94.87％的21三体病例，100%的三体18例，和100%的三体13例，假阳性率为2.49%,0.41%，和0.49%，分别。总体检出率和总体假阳性率分别为96.92%和2.52%,分别。高龄组的检出率为100％，一般年龄组的检出率为94.12％。此外,在137个胎儿中检测到结构异常，44例胎儿有其他染色体异常。该策略的总成本为3,730,843.30美元，每人测试的成本为153.15美元。使用非侵入性产前检测作为一线策略的总费用为6,813,387.04美元，每人检测费用为279.68美元。
结论：我们的策略是一种有效且具有成本效益的方法，用于检测主要三体畸形并识别更多具有潜在异常的胎儿。因此,该策略是一种有价值的筛查方法,在临床上具有很高的可行性.
方法：这是一项回顾性分析研究，我们根据产妇年龄估计了21、18和13三体的风险，胎儿颈部半透明厚度，鼻骨,静脉导管搏动指数速度,三尖瓣反流,胎儿心率,游离β-人绒毛膜促性腺激素，和单胎孕妇的妊娠相关血浆蛋白A，并对21三体综合征风险在1:500至1:300之间的女性进行了非侵入性产前检测。对无创性产前检查结果阳性或失败的女性以及该筛查方法的高危人群进行有创诊断测试。比较了该策略与非侵入性产前检测之间的直接费用，后者仅用作所有孕妇的一线筛查。
结果：在25,155名接受筛查的单身孕妇中，24,361可用于分析，其中，194例接受了无创性产前检测。在24361名女性中，39、19和7分别具有三体21、18和13。使用这种策略可能会检测到大约94.87％的21三体病例，100%的三体18例，和100%的三体13例，假阳性率为2.49%,0.41%，和0.49%，分别。总体检出率和总体假阳性率分别为96.92%和2.52%,分别。高龄组的检出率为100％，一般年龄组的检出率为94.12％。此外,在137个胎儿中检测到结构异常，44例胎儿有其他染色体异常。该策略的总成本为3,730,843.30美元，每人测试的成本为153.15美元。使用非侵入性产前检测作为一线策略的总费用为6,813,387.04美元，每人检测费用为279.68美元。
结论：我们的策略是一种有效且具有成本效益的方法，用于检测主要三体畸形并识别更多具有潜在异常的胎儿。因此,该策略是一种有价值的筛查方法,在临床上具有很高的可行性.
