Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England

Morgan, Siân; Delbarre, Alissa; Ward, Pat

doi:10.1002/uog.12384

Cited by 18 publications

(13 citation statements)

References 11 publications

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“…Compared to traditional noninvasive screening methods, NIPT is associated with a higher sensitivity for trisomy 21 (85-90% vs. 95.5-100%) and a lower false-positive rate (3-5% vs. 0.002-0.2%) [1,2,3,4,5,6,7]. The implementation of NIPT in the USA has resulted in a marked decline in the number of invasive procedures, even in the first year, of around 17%, while the introduction of first trimester combined screening in the USA, UK and Australia has been associated with a gradual decline rate, on average of 1.8-8% per year [8,9,10,11]. In a recent survey, around 86 and 76% of physicians in the USA would offer NIPT to high-risk and average-risk women within 12 months, respectively [10].…”

Section: Introductionmentioning

confidence: 99%

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

Poon¹,

Tse²,

Kou³

et al. 2014

Fetal Diagn Ther

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Objectives: To investigate how the introduction of noninvasive prenatal testing (NIPT) influenced women's testing choices following a positive Down syndrome screening. Methods: A retrospective study was conducted to compare differences in the uptake rates of invasive prenatal diagnosis (IPD) or no testing in one public hospital 1 year before (pre-NIPT) and 1 and 2 years after the introduction of NIPT in private in August 2011 using descriptive analysis and a χ² test. Conventional screening was funded publicly, but NIPT was not. Multivariable binary logistic regression was used to determine factors affecting choices. Results: In pre-NIPT and in years 1 and 2 after the introduction of NIPT, 306, 362 and 401 women who screened positive were seen, respectively. In year 1 and year 2, 12.6 and 26.7% of them underwent NIPT while IPD was decreased by 16.3 and 25.6%, respectively (p < 0.001). Both chorionic villus sampling and amniocentesis decreased in year 1, but only the former in year 2. However, the rate of declining further testing was similar before and after NIPT (p = 0.213). In multivariable analysis, first trimester screening, nulliparity and working women were significant predictors of accepting NIPT, while only nulliparity was a predictor of declining IPD (OR = 0.61). Conclusions: Introduction of NIPT resulted in a significant decrease in IPD for 2 consecutive years.

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Section: Introductionmentioning

confidence: 99%

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

Poon¹,

Tse²,

Kou³

et al. 2014

Fetal Diagn Ther

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“…27 Nonetheless, 1.8% ([1020-736]/16 098) of IPD (Table 2) were still required for other indications including increased NT or structural anomalies, even if all screen-positive women opted for NIPT. Alternatively, the screenpositive rate could be reduced by changing the cut-off value from 1 in 250 to 1 in 150, 2 improving the quality assurance of measurement of NT (www. fetalmedicine.com) and laboratory assays of serum markers, algorithms in calculation of trisomy 21 risk, and adding sonographic markers.…”

Section: Discussionmentioning

confidence: 99%

“…prenatal diagnosis (IPD) on the basis of maternal age to a non-invasive screening method [1][2][3][4][5] with improving performance. [6][7][8][9][10][11][12] Initially, the introduction…”

Section: Implications For Clinical Practice or Policymentioning

confidence: 99%

“…1 The later implementation of combined first-trimester screening (cFTS) caused a mild and gradual decrease in the number of IPD and amniocentesis, but an increase in the number or proportion of chorionic villus sampling (CVS) tests. [1][2][3] The recent introduction of non-invasive prenatal testing (NIPT) has resulted in a rapid decrease in the number of invasive tests including amniocentesis and CVS within a short period of time. 5,13,14 Such non-invasive testing has a higher sensitivity (95.5-100% vs 85-90%) and a lower false-positive rate (0.002-0.2% vs 3-5%) than traditional non-invasive screening methods for Down's syndrome, [6][7][8][9][10][11][12] and is well accepted by women 5 and physicians.…”

Section: 作為權變選擇的非侵入性產前染色體檢測對於侵入性產前診斷和唐氏綜合症產前檢出率的影響mentioning

confidence: 99%

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Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome

et al. 2016

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“…The clinical introduction of NIPT in the United States has resulted in a marked decline in the number of invasive procedures of about 17%, while in the United Kingdom and Australia the decline was more gradual, with an average of 1.8-8% per year [19][20][21][22]. In a recent survey, around 86% of physicians in the United States claimed they would offer NIPT to high-risk women within 1 year after the survey [21].…”

Section: Introductionmentioning

confidence: 99%

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

et al. 2015

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JGM mostly trisomy 21, relies exclusively on biochemical and sonographic measurements performed in the first and second trimesters. With a 3-5% false-positive rate, first-trimester screening achieves a detection rate of about 60-95% for trisomy 21 [1][2][3]. In 1997, Lo et al. [4] www.e-kjgm.org Purpose: Noninvasive prenatal test (NIPT) by massively parallel sequencing (MPS) of cell-free fetal DNA in maternal plasma marks a significant advancement in prenatal screening, minimizing the need for invasive testing of fetal chromosomal aneuploidies. Here, we report the initial clinical performance of NIPT in Korean pregnant women. Materials and Methods: MPS-based NIPT was performed on 910 cases; 5 mL blood samples were collected and sequenced in the Shenzhen BGI Genomic Laboratory to identify aneuploidies. The risk of fetal aneuploidy was determined by L-score and t-score, and classified as high or low. The NIPT results were validated by karyotyping for the high-risk cases and neonatal follow-up for low-risk cases. Results: NIPT was mainly requested for two clinical indications: abnormal biochemical serum-screening result (54.3%) and advanced maternal age (31.4%). Among 494 cases with abnormal biochemical serum-screening results, NIPT detected only 9 (1.8%) high-risk cases. Sixteen cases (1.8%) of 910 had a high risk for aneuploidy: 8 for trisomy 21, 2 for trisomy 18, 1 for trisomy 13, and 5 for sex chromosome abnormalities. Amniocentesis was performed for 7 of these cases (43.8%). In the karyotyping and neonatal data, no false positive or negative results were observed in our study. Conclusion: MPS-based NIPT detects fetal chromosomal aneuploidies with high accuracy. Introduction of NIPT as into clinical settings could prevent about 98% of unnecessary invasive diagnostic procedures. Key words:Noninvasive prenatal test (NIPT), Cell-free fetal DNA (cffDNA), Fetal chromosomal aneuploidies.86 SH Han, et al. • Noninvasive prenatal test for fetal chromosomal aneuploidies www.e-kjgm.org of circulating cell-free fetal DNA (cffDNA) in maternal plasma, which has opened a new approach to noninvasive prenatal test (NIPT).Since the introduction of NIPT for fetal chromosomal aneuploidies by massively parallel sequencing (MPS), the clinical application of NIPT for screening high-risk pregnant women has grown significantly. Several validation studies of high-risk populations have demonstrated the detection rates for trisomy 21 of >99%, 98% for trisomy 18, and 89% for trisomy 13, with false positive rates of 0.1%, 0.1%, and 0.4%, respectively [5][6][7][8][9][10][11][12][13][14]. Consequently, in high-risk populations, NIPT has been shown to have a higher sensitivity and specificity than biochemical serumscreening tests that are currently in use for these trisomies. Recently, this new approach to fetal aneuploidy screening has been introduced in routine clinical practice [15].The excellent performance of NIPT in multiple clinical validations [5][6][7][8][9][10][11][12][13][14], the noninvasive nature of the testing, and the positi...

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Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England

Abstract: Objective

Cited by 18 publications

References 11 publications

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

Uptake of Noninvasive Prenatal Testing in Chinese Women following Positive Down Syndrome Screening

Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome

Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

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