scholarly journals Ductus venosus pulsatility index measurement reduces the false-positive rate in first-trimester screening

2010 ◽  
Vol 36 (6) ◽  
pp. 661-667 ◽  
Author(s):  
E. Timmerman ◽  
K. Oude Rengerink ◽  
E. Pajkrt ◽  
B. C. Opmeer ◽  
J. A. M. van der Post ◽  
...  
Keyword(s):  
False Positive ◽  
Pulsatility Index ◽  
False Positive Rate ◽  
First Trimester ◽  
Ductus Venosus ◽  
First Trimester Screening ◽  
Index Measurement ◽  
Positive Rate ◽  
Trimester Screening

scholarly journals New screen on the block: non-invasive prenatal testing for fetal chromosomal abnormalities

2017 ◽  
Vol 9 (4) ◽  
pp. 248 ◽  
Author(s):  
Sara Filoche ◽  
Beverley Lawton ◽  
Angela Beard ◽  
Anthony Dowell ◽  
Peter Stone
Keyword(s):  
False Positive ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
First Trimester ◽  
Maternal Blood ◽  
Non Invasive ◽  
Positive Rate ◽  
Trimester Screening

ABSTRACT Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value. The low false-positive rate (1–3%) is one of the most advertised advantages of NIPT. In practice, this could lead to a significant reduction in the number of false-positive tests and the need for invasive diagnostic procedures. NIPT is now suitable for singleton and twin pregnancies and can be performed from ~10 weeks in a pregnancy. NIPT is not currently publicly funded in most countries. However, the increasing availability of NIPT commercially will likely lead to an increase in demand for this as a screening option. Given the high numbers of women who visit a general practitioner (GP) in their first trimester, GPs are well-placed to also offer NIPT as a screening option. A GP’s role in facilitating access to this service will likely be crucial in ensuring equity in access to this technology, and it is important to ensure that they are well supported to do so.

scholarly journals Ductus Venosus Pulsatility Index as an Antenatal Screening Marker for Down'S Syndrome: Use with the Combined and Integrated Tests

2009 ◽  
Vol 16 (3) ◽  
pp. 112-118 ◽  
Author(s):  
A Borrell ◽  
V Borobio ◽  
J P Bestwick ◽  
N J Wald
Keyword(s):  
Cost Effectiveness ◽  
False Positive ◽  
Pulsatility Index ◽  
Detection Rate ◽  
False Positive Rate ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Ductus Venosus ◽  
Positive Rate ◽  
Screening Marker

Objectives To assess the value of ductus venosus blood flow (expressed as pulsatility index, DVPI) in antenatal Down's syndrome screening when used with the Combined and Integrated tests. Methods DVPI measurements between 10 and 13 weeks’ gestation in 66 Down's syndrome and 7184 unaffected pregnancies were collected from women attending the Hospital Clinic, Barcelona, for antenatal care from 1999 to 2007 and combined with the Serum Urine and Ultrasound Screening Study (SURUSS) data to model screening performance, safety and cost-effectiveness of the screening tests with and without DVPI. Results The median DVPI multiple of the normal median in Down's syndrome pregnancies was 1.55 (95% CI 1.36–1.73). As a single screening marker without using maternal age, DVPI has a 62% detection rate for a 5% false-positive rate. At a 90% detection rate (first trimester measurements at 11 weeks’ gestation) the addition of DVPI reduced the false-positive rate of the Combined test from 8.5% to 4.6% and the Integrated test from 2.0% to 1.1%, with a corresponding reduction in fetal losses from diagnostic procedures. There was no material loss of cost-effectiveness. Conclusion Addition of DVPI measurements to the Combined and Integrated tests substantially improves the efficacy and safety of antenatal Down's syndrome screening.

scholarly journals Ductus Venosus: A Love Story of 14 Years

2011 ◽  
Vol 5 (2) ◽  
pp. 141-149 ◽  
Author(s):  
Nuno Montenegro ◽  
Alexandra Matias
Keyword(s):  
Blood Flow ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Love Story ◽  
Positive Rate ◽  
Trimester Screening ◽  
Twin Pregnancies

ABSTRACT Ductus venosus is a tiny vessel with a central role in fetal circulation. Combining B-mode with color and pulsed Doppler is feasible to identify this vessel and evaluate the blood flow waveform at 11 to 13 weeks. The higher prevalence of abnormal A-wave in fetuses with abnormal karyotype and/or cardiac defects turned DV evaluation into a useful marker for chromosomal abnormalities and cardiopathies. Even when combined with nuchal translucency (NT) or biochemical markers, DV blood flow evaluation contributes to an increase in sensitivity and reduces false-positive rate. Abnormal ductal flow is also related to a worse fetal and perinatal outcome. In monochorionic twin pregnancies, in addition to NT measurement at 11 to 14 weeks, the Doppler assessment of DV blood flow increases relevantly the performance of screening for those at higher risk of developing twin-to-twin transfusion syndrome. This story of 14 years surely contributed to change the way first trimester screening is being implemented.

scholarly journals Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

2014 ◽  
Vol 8 ◽  
pp. CMRH.S14958
Author(s):  
Merilainen Anna ◽  
Peuhkurinen Sini ◽  
Honkasalo Timppa ◽  
Laitinen Paivi ◽  
Kokkonen Hannaleena ◽  
...  
Keyword(s):  
Detection Rate ◽  
False Positive Rate ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
First Trimester ◽  
First Trimester Screening ◽  
Invasive Procedures ◽  
Screening Performance ◽  
Positive Rate ◽  
Trimester Screening

Objective To evaluate the efficacy of first trimester combined screening for Down's syndrome in Northern Finland during the first 10 years of practice. Methods During 1 January 2002 to 31 December 2011, 47,896 women participated voluntarily in combined screening during first trimester. The risk cutoff was 1:250. The study period was divided into two time periods; 2002-2006 and 2007-2011. Results During the first half of the study period, the detection rate (DR) was 77.3% with a 4.9% false-positive rate (FPR). During the latter half, the DR was 77.1% with a 2.8% FPR. Conclusions An important issue is the number of invasive procedures needed to detect one case of Down's syndrome. The screening performance improved markedly in the latter five years period since the FPR lowered from 4.9% to 2.8% and the number of invasive procedures needed to detect one case of Down's syndrome lowered from 15 to 11.

scholarly journals First Trimester Genetic Sonogram for Screening Fetal Down Syndrome: a Population-based Study

2020 ◽  
Author(s):  
Kuntharee Traisrisilp ◽  
Supatra Sirichotiyakul ◽  
Fuanglada Tongprasert ◽  
Kasemsri Srisupun ◽  
Suchaya Luewan ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Pregnant Women ◽  
False Positive ◽  
Detection Rate ◽  
False Positive Rate ◽  
Nasal Bone ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Positive Rate

Abstract Background: To evaluate the performance of first trimester sonomarkers in the detection of fetal Down syndrome among Thai pregnant womenMethods: Pregnant women at 11-13+6 weeks’ gestation underwent ultrasound examination for assessment of nuchal translucency (NT), nasal bone (NB), tricuspid regurgitation (TR), and abnormal ductus venosus (aDV) Doppler waveforms. The women were followed up for final outcomes. Fetal abnormalities other than trisomy 21 were excluded. The performances of each sonomarker and their combinations in predicting fetal Down syndrome were calculated.Results: A total of 7,820 pregnant women meeting the inclusion criteria were available for analysis, including 20 cases with fetal Down syndrome and 7,800 unaffected cases. Of the four sonomarkers, NT, as a single sonomarker, had the highest detection rate (55.0% at a false positive rate of about 5%), whereas the remaining single sonomarkers had low detection rate (15-20%). The combination of all sonomarkers had the highest detection rate of 70% but the false positive rate was as high as 10.8%. The combination of NT and NB had a detection rate of 60% with an acceptable false positive rate of 6.9%, whereas the other combinations yielded relatively high false positive rates. Conclusion: The first trimester genetic sonogram in screening for Down syndrome among Asian women is acceptably effective and may be offered to some selected groups of the population. NT is the best sonomarker with a detection rate of 55% at 5% false positive rate and its combination with NB can improve performance with minimal increase in false positive rate.

Combined screening test for trisomy 21 – is it as efficient as we believe?

2017 ◽  
Vol 45 (2) ◽  
Author(s):  
Marcin Wiechec ◽  
Agnieszka Nocun ◽  
Anna Knafel ◽  
Ewa Wiercinska ◽  
Jiri Sonek ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Absolute Risk ◽  
False Positive Rate ◽  
First Trimester ◽  
First Trimester Screening ◽  
Screening Performance ◽  
The Us ◽  
Positive Rate ◽  
Trimester Screening ◽  
The One

AbstractObjectives:To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies.Methods:This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. The study population was divided in two groups: combined screening (CS) and ultrasound-based screening (US). Absolute risk was calculated to determine the influence of MA on screening performance.Results:The CS arm comprised 5145 subjects including 51 cases of trisomy 21 (T21), and the US arm comprised 5733 subjects including 87 subjects with T21. Seven hundred and seventy-five subjects were excluded from the study. For a false positive rate (FPR) of 3%, the detection rate (DR) of T21 in CS arm was 78% vs. 90% in US arm. For 5% FPR, DR was 84% and 94% in CS and US arm, respectively. MA had an influence on DR positive rates in CS: both DR and FPR for T21 increased with advance in MA.Conclusions:The US protocol showed higher DR of T21 compared to the CS one. It may be considered as a viable alternative to CS for T21 where access to biochemical testing is limited.

scholarly journals Cell-free DNA Testing: Where are We now?

2016 ◽  
Vol 10 (2) ◽  
pp. 172-177
Author(s):  
Gokhan Goynumer ◽  
Cihat Sen ◽  
Olus Api ◽  
Murat Yayla
Keyword(s):  
Maternal Age ◽  
Detection Rate ◽  
False Positive Rate ◽  
First Trimester ◽  
First Trimester Screening ◽  
Dna Testing ◽  
Clinical Implementation ◽  
Free Dna ◽  
Positive Rate ◽  
Trimester Screening

ABSTRACT Prenatal screening for fetal aneuploidies has been focused on mainly Down syndrome in the last 40 years. The method of screening has changed from maternal age in the 1970s, with a detection rate of 30 and 5% false positive rate (FPR), to a combination of maternal age and second-trimester serum biochemical markers (triple test and quadruple test) in the 1980s and 1990s, with 60 to 75% detection rate and 5% false positive rate (FPR). Following this, the era of first trimester screening for Down syndrome has started with the clinical implementation of fetal nuchal translucency screening. The combination of maternal age, NT thickness and serum free beta-human chorionic gonadotropin (â-hCG) and pregnancy-associated plasma protein A (PAPP-A) in the first trimester has yielded a 90% detection rate with a 5% FPR. Starting from the year 2008, studies have shown that the performance of screening may be improved by analysis of cell-free deoxyribonucleic acid (DNA) (cfDNA) in maternal blood. Several studies in the last few years have reported the clinical validation of cell free fetal DNA test in the maternal serum in screening for trisomies 21, 18, and 13 and sex chromosome aneuploidies. Its widespread use is limited by the relatively high cost of the test and the lack of consensus about the optimal way for its clinical implementation. Until the optimal way of incorporating cfDNA into the clinical practice gets identified, it would be wise not to substitute cfDNA testing in place of first-trimester screening for fetal defects and other major complications of pregnancy. Furthermore, it would be preferable for clinicians managing individual patients not to counsel them for their result as positive or negative, rather the clinicians should use the risk estimate from the first-line method of screening as the prior risk and modify this by the appropriate positive or negative likelihood ratio from the cfDNA test. How to cite this article Sen C, Api O, Yayla M, Goynumer G. Cell-free DNA Testing: Where are We now? Donald School J Ultrasound Obstet Gynecol 2016;10(2):172-177.

scholarly journals Antenatal screening for aneuploidy

2017 ◽  
Vol 7 (1) ◽  
pp. 234 ◽  
Author(s):  
Smita S. Patne ◽  
Aditi J. Upadhye ◽  
Shantanu C. Shembekar ◽  
Chaitanya A. Shembekar ◽  
Jayshree J. Upadhye
Keyword(s):  
Chorionic Gonadotropin ◽  
Human Chorionic Gonadotropin ◽  
False Positive ◽  
False Positive Rate ◽  
First Trimester ◽  
Second Trimester ◽  
Marker Test ◽  
Second Trimester Screening ◽  
Positive Rate ◽  
Trimester Screening

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.

Sign in / Sign up

Export Citation Format

Share Document