First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening

Alldred, S Kate; Takwoingi, Yemisi; Guo, Boliang; Pennant, Mary; Deeks, Jonathan J; Neilson, James P; Alfirević, Z̄arko

doi:10.1002/14651858.cd012599

Cited by 30 publications

(30 citation statements)

References 578 publications

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“…Recent advances in imaging techniques, medical genetics and clinical biology have enabled clinicians to screen for various adverse outcomes, such as aneuploidy, pre‐eclampsia and preterm birth, with potentially huge impact on short‐ and long‐term maternal and fetal wellbeing. Indeed, the introduction of such screening techniques in obstetrics has led to significant reductions in the incidence of certain conditions.…”

Section: Introductionmentioning

confidence: 99%

“…The sensitivity of detection improved with the introduction of sequential screening using first‐trimester ultrasound and first‐ as well as second‐trimester serum markers (90% detection), and subsequently improved even further with the advent of cell‐free DNA testing, which allowed screening as early as 10 weeks' gestation, with 99% sensitivity. These advances in screening have improved our ability to offer prenatal, or immediate neonatal, targeted therapy. To take another example, routine screening for pre‐eclampsia, with thorough maternal history‐taking, biochemical‐marker measurement and uterine artery Doppler assessment, has improved the prediction of this hypertensive disorder, thus facilitating the use of aspirin prophylaxis in high‐risk patients, a course of action which, when initiated prior to 16 weeks of gestation, has proved efficacious in the prevention of pre‐eclampsia.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Early first‐trimester transvaginal ultrasound is indicated in pregnancy after previous Cesarean delivery: should it be mandatory?

Timor‐Tritsch

D’Antonio

Calì

et al. 2019

Ultrasound in Obstet & Gyne

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Early first‐trimester transvaginal ultrasound is indicated in pregnancy after previous Cesarean delivery: should it be mandatory?

Timor‐Tritsch

D’Antonio

Calì

et al. 2019

Ultrasound in Obstet & Gyne

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“…13 Alldred SK et al reported that meta-analysis of the six most frequently evaluated test combinations showed that a test strategy involving maternal age and a combination of first trimester NT and PAPP-A, and second trimester total hcG, uE3, AFP and Inhibin A significantly outperformed other test combinations that involved only one serum marker or NT in the first trimester, detecting about nine out of every 10 Down's syndrome pregnancies at a 5% false positive rate. 14 Alldred SK et al reported that meta-analysis of 12 best performing or frequently evaluated test combinations showed double and triple tests (involving AFP, uE3, total hcG, free hcG) significantly outperform individual markers, detecting six to seven out of every 10 Down's syndrome pregnancies at a 5% false positive rate.…”

Section: Resultsmentioning

confidence: 99%

Antenatal screening for aneuploidy

Patne¹,

Upadhye

Shembekar

et al. 2017

Int J Reprod Contracept Obstet Gynecol

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Background: It is uncertain how best to screen pregnant women for the presence of fetal Down's syndrome and other aneuploides, whether to perform first-trimester screening or to perform second-trimester screening or both.Methods: Women with singleton and multiple pregnancies underwent first-trimester combined screening (measurement of nuchal translucency, pregnancy-associated plasma protein A [PAPP-A], and the free beta subunit of human chorionic gonadotropin at 10 weeks 3 days through 13 weeks 6 days of gestation). Also, second-trimester quadruple screening (measurement of alpha-fetoprotein, total human chorionic gonadotropin, unconjugated estriol, and inhibin A) and triple marker test was done from 15 to 18 weeks of gestation.Results: 12 (5%) patients had positive screening test for combined screening in first trimester, 6 (10.9%) patients had positive screening for quadruple test while 1 (2.85%) patients had positive screening for triple test. Out of 19 positive screening, 16 (84.21%) had their amniocentesis done for confirmation of diagnosis. In all 16 patients, chromosomal analysis was normal. Not a single patient turned out to have a baby with Down syndrome or any other aneuploidy. False positive rate for combined screening in first trimester was 5%, false positive rate for quadruple test in second trimester was 10.9%, false positive rate for triple marker test in second trimester was 2.85%.Conclusions: First-trimester combined screening is better than second-trimester quadruple test or triple marker test for syndrome or any other aneuploidy.

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“…Some researchers suggest that AFP MoM ≤ 0.5 and β-hCG MoM≥2.5 can be used as suitable cut-off values for screening Down syndrome pregnancy (5). And others only use median of MoM (mMoM) as a quality control measure but do not include in the screening criteria (6)(7)(8). From our clinical experiences, we have found that MoM value has certain clinical significance.…”

Section: Introductionmentioning

confidence: 93%

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

Zhou

Zhang

et al. 2018

BST

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To assess the predictive value of integrating multiple of the median (MOM) with the risk cutoff value for serological screening of Down syndrome. In this retrospective study, women with singleton pregnancies who underwent triple serological screening for Down syndrome were followed, and their screening results and pregnancy outcomes were recorded. The range of MoM value of each indicator was calculated, different protocols integrating various MoM values with the risk cutoff value were compared. A total of 120,269 women with singleton pregnancy were screened and included in the analysis, of those 52 fetuses were confirmed as trisomy-21 by amniocentesis chromosomal karyotyping. Using a risk cutoff value of 1:380, 8,809 samples tested positive and the screen positive rate was 7.32% (8,809/120,269). The normal reference ranges (5-95%) of the MoM value of AFP, β-hCG, and uE3 were 0.60-1.72, 0.43-2.21 and 0.60-1.58, respectively. The detection rate of each screening protocol integrating different MoM percentile values was between 75% and 79%, the positive rate was between 7% and 18%, and the false positive rate was between 7% and 18%. Protocol-6 which combined the screening risk cutoff value and β-hCG MoM ≥ 97.5% percentile is an optimal protocol with a relatively high detection rate (78.8%) and low false positive rate (8.2%). Integrating MoM values of serological indicators can appropriately increase detection rate when interpreting the results of Down syndrome screening.

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First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening

Cited by 30 publications

References 578 publications

Early first‐trimester transvaginal ultrasound is indicated in pregnancy after previous Cesarean delivery: should it be mandatory?

Early first‐trimester transvaginal ultrasound is indicated in pregnancy after previous Cesarean delivery: should it be mandatory?

Antenatal screening for aneuploidy

Integrating multiple of the median values of serological markers with the risk cut-off value in Down syndrome screening

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