First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome

Malone, Fergal D.; Canick, Jacob A.; Ball, Robert H.; Nyberg, David A.; Comstock, Christine H.; Bukowski, Radek; Berkowitz, Richard L.; Gross, Susan J.; Dugoff, Lorraine; Craigo, Sabrina; Timor‐Tritsch, I. E.; Carr, Stephen R.; Wolfe, Honor M.; Dukes, Kimberly A.; Bianchi, Diana W.; Rudnicka, Alicja R.; Hackshaw, Allan; Lambert-Messerlian, Geralyn; Wald, Nicholas; D’Alton, Mary E.

doi:10.1056/nejmoa043693

Cited by 1,015 publications

(577 citation statements)

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“…4 When NT measurements are incorporated into the integrated test (NT and PAPP-A measurements in the first trimester) and the quadruple test (␣-fetoprotein, unconjugated estriol, human chorionic gonadotropin and dimeric inhibin-A in the second trimester), 85-90% detection is achievable at a false-positive rate of 2% or less. 5,6 Acquiring the skill to properly measure NT requires specialized training and oversight. 7 Recognizing this, several national and international programs have been established to train and qualify sonographers, and also to assess their ability to consistently and accurately quantify the NT thickness.…”

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confidence: 99%

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Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective

Palomaki

Neveux

Donnenfeld³

et al. 2008

Genetics in Medicine

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Purpose: To assess nuchal translucency measurements that were performed as part of routine prenatal screening for Down syndrome. Methods: Collect ultrasound measurements of nuchal translucency and crown rump length provided by individual sonographers over a 6-month period to six North American prenatal screening laboratories, along with the laboratory's nuchal translucency interpretation in multiples of the median. For sonographers with 50 or more observations, compute three nuchal translucency quality measures (medians, standard deviations, and slopes), based on epidemiological monitoring. Results: Altogether, 23,462 nuchal translucency measurements were submitted by 850 sonographers. Among the 140 sonographers (16%) who submitted more than 50 observations, 76 (54%) were found to have all three quality measures in the target range. These 140 sonographers collectively accounted for 14,210 nuchal translucency measurements (61%). The most common single measure to be out of range was nuchal translucency multiples of the median, found for 29 of the 140 sonographers (21%). Nuchal translucency (NT) is defined as the collection of fluid behind the fetal neck occurring in the first trimester of pregnancy. 1-3 When measured and interpreted correctly, it is the most discriminatory marker for Down syndrome that has been reported in a routine setting. Univariately, NT measurements can identify about 60% of Down syndrome pregnancies in the first trimester at a 5% false-positive rate. 4 Detection increases to between 80% and 85%, when NT is combined with first trimester biochemical measurements of pregnancyassociated plasma protein-A (PAPP-A) and human chorionic gonadotropin (the intact, total, or free-␤ subunit forms). 4 When NT measurements are incorporated into the integrated test (NT and PAPP-A measurements in the first trimester) and the quadruple test (␣-fetoprotein, unconjugated estriol, human chorionic gonadotropin and dimeric inhibin-A in the second trimester), 85-90% detection is achievable at a false-positive rate of 2% or less. 5,6 Acquiring the skill to properly measure NT requires specialized training and oversight. 7 Recognizing this, several national and international programs have been established to train and qualify sonographers, and also to assess their ability to consistently and accurately quantify the NT thickness. 8 -11 The hands-on performance training is usually evaluated through still images submitted to one, or a panel of, expert sonographers. Several research trials using NT measurements have shown that such training, although necessary, is not sufficient to assure reproducibility of absolute measurements among sonographers. For example, both the Serum, Urine and Ultrasound Screening Study (SURUSS) 5 and First and Second Trimester Evaluation of Risk (FASTER) study 12 found that use of sonographer-specific reference data (medians) resulted in improved screening performance.In the current study, information was sought from screening laboratories regarding how they deal with NT measurements

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confidence: 99%

“…These parameters have already proven successful for monitoring NT measurements as part of research trials. 5,6 With such data in hand, it should be possible to shape guidelines for assessing NT and, thereby, help prenatal screening laboratories assure that Down syndrome risk estimates that include NT measurements are reliable.…”

mentioning

confidence: 99%

Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective

Palomaki

Neveux

Donnenfeld³

et al. 2008

Genetics in Medicine

Self Cite

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“…[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. 15 Although not as a free service, NIPT has been available in Hong Kong since August 2011.…”

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%

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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“…Quadruple screening refers to the examination of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin A (DIA) in the mother's blood. Second trimester maternal serum screening is the most common screening method for Down syndrome in the United States (Malone, et al, 2005 …”

Section: Screening For Aneuploidymentioning

confidence: 99%

Influence of Anchoring on Miscarriage Risk Perception Associated with Amniocentesis

Nuccio

Hashmi

Mastrobattista

et al. 2014

Journal of Genetic Counseling

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One factor women consider when deciding whether to pursue amniocentesis is the risk of miscarriage. People use mechanisms like anchoring, or the prior belief regarding the magnitude of risk, as a frame of reference for new information. This study aimed to determine a woman's perception of miscarriage risk associated with amniocentesis before and after genetic counseling and to determine what factors anchor a woman's perception of miscarriage risk. One hundred thirteen women being seen for prenatal genetic counseling and possible amniocentesis at six Houston clinics participated in the two‐part anonymous survey. While most women (56.7 %) perceived the risk as low or average pre‐counseling and indicated the numeric risk of amniocentesis as <1 %, significantly more patients (73 %) correctly identified the numeric risk as <1 % post‐counseling (p < 0.0001). However, the majority of patients’ qualitative risk perception did not change after the genetic counseling session (60 %). Those who changed their feeling about the risk after counseling showed a decreased perception of the risk (p < 0.0001). Participants who elected amniocentesis had a significantly lower perception of the risk (p = 0.017) whereas those who declined amniocentesis were more likely to view the risk as high (p = 0.004). The only two anchoring factors that had an effect were having a friend or relative with a personal or family history of a genetic disorder (p = 0.001) and having a child already (p = 0.038); both were associated with a lower risk perception. The lack of significant factors may reflect the uniqueness of each patient's risk assessment framework and reinforces the importance of genetic counseling to elucidate individual concerns, particularly as non‐invasive prenatal testing becomes more widely available and further complicates the prenatal testing landscape.

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First-Trimester or Second-Trimester Screening, or Both, for Down's Syndrome

Cited by 1,015 publications

References 20 publications

Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective

Quality assessment of routine nuchal translucency measurements: a North American laboratory perspective

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

Influence of Anchoring on Miscarriage Risk Perception Associated with Amniocentesis

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