First trimester fetal nuchal translucency: Problems with screening the general population 2.

Lj, Roberts; Bewley, Susan; Mackinson, A-M.; Rodeck, CH

doi:10.1111/j.1471-0528.1995.tb11290.x

Cited by 122 publications

(66 citation statements)

References 7 publications

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“…Numerous studies, principally coordinated by the Fetal Medicine Foundation (FMF), based in London, have shown sensitivities for Down syndrome detection approaching 90% for a 5% false-positive rate. Other publications have demonstrated less success -in some cases dramatically so [9][10][11] . Further analysis of the unsupportive data has shown that in many cases, measurements were either not made properly, attempted at gestational ages when NT measurements were not technically achievable, or were only con-sidered as an afterthought to getting first-trimester scans completed as fast as possible [9][10][11] .…”

Section: Introductionmentioning

confidence: 99%

Nuchal Translucency Measurements for First-Trimester Screening: The ‘Price’ of Inaccuracy

2007

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Objective: First-trimester aneuploidy screening is in transition from the phase of ‘development’ to that of ‘diffusion.’ As with all other technologies, there is risk of diminished performance until newer centers are well experienced. Typically, inexperienced sonographers under-measure nuchal translucency (NT), and experience, training and continual monitoring of data are needed to ensure that measurements do not deviate. Here we assess the impact of systematic under-measurement on abnormality detection. Study Design: Actual NT measurements from 13,887 normal fetuses, 82 with trisomy 21 (T21) and 61 with other abnormalities (OA) with birth outcome data were mathematically modified to show either a 25% or 0.5-mm decrease in measurement. The impact upon sensitivity and screen-positive rates were assessed. Results: Reducing the NT measurements of T21 and OA cases lowers the sensitivity from 81.7 and 70.5%, respectively, to 67.1 and 62.3% (p < 0.01). If normals are correspondingly lowered, then the screen-positive rates are reduced from 6.9 to 2.0 and 2.5%. To maintain the same screen-positive rates and sensitivity, the risk threshold would have to be increased from 1/300 to 1/556. Conclusion: Minor inaccuracies in NT measurements as small as 25% or 0.5 mm will have very significant negative impacts upon abnormality detection, reducing detection rates by 18% (81.7 to 67.1%). Just as it is completely accepted that laboratory measurements require standardization and quality assurance, NT measurements, because they are used in an algorithm, need to be treated with the same rigor. That way the published data from centers that have developed such screening can be applied by other operators at other sites when counseling their patients.

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Section: Introductionmentioning

confidence: 99%

Nuchal Translucency Measurements for First-Trimester Screening: The ‘Price’ of Inaccuracy

2007

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“…In the first trimester, nuchal translucency (NT) is investigated, in which the distance between the external surface of the occipital bone and the internal surface of the skin is measured in a longitudinal section [6][7][8][9][10] , its proposed limit being 3 mm [11][12][13][14] . Some authors recommend the use of a multiple of median, compared to values measured at different weeks of normal pregnancies [15][16][17][18] .…”

Section: Nuchal Oedema In the First Trimestermentioning

confidence: 99%

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Beke¹,

Joó²,

Csaba³

et al. 2009

Fetal Diagn Ther

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Introduction: The authors investigated the incidence of chromosomal abnormalities in subcutaneous oedema detected in the fetus by intrauterine ultrasonography. Material and Method: In the 10-year period, intrauterine karyotyping was performed in pregnancies with positive ultrasound findings for subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Results: Intrauterine karyotyping in fetal subcutaneous oedema was carried out in 434 cases. The chromosomal investigation was made in nuchal oedema in 374 cases, in 120 patients the chromosomal examination was made in the first trimester because of nuchal translucency, and in 254 cases in the second trimester because of nuchal thickening. Cystic hygroma cases (27 patients), non-immune hydrops cases (20 patients), and combined cases of non-immune hydrops and cystic hygroma (13 patients) were investigated separately. In nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51% in the second trimester. Chromosomal abnormality was found in 48.15, 20, and 53.8% in cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all of the changes accompanied by subcutaneous oedema, 50, 25 and 18.75% of the pathological karyotypes was X-monosomy, trisomy 18 and trisomy 21, respectively. Discussion: It was important to distinguish nuchal oedema and cystic hygroma, and in the case of non-immune hydrops, it was also important to discuss cases with or without cystic hygroma separately. During the investigations, cases of non-immune hydrops with or without cystic hygroma were evaluated as separate categories. Conclusions: The authors emphasize the differentiation of the various types of subcutaneous oedema and the importance of precise information about the risks, provided during genetic counselling.

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“…The costs of ambulance transport and a post-mortem examination were based on figures reported by Bewley and colleagues. 284 As shown in Table 15, for purposes of the probabilistic analysis of cost-effectiveness a uniform distribution was assumed for the unit cost of ambulance transport and unit cost of death which reflected an equal chance of the unit cost estimated falling within the range of varying the costs by a factor of 0.5 and 1.5.…”

Section: Costs Associated With the Management Of Collapsed Infantsmentioning

confidence: 99%

Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis

Knowles¹,

Griebsch²,

Dezateux

et al. 2005

Health Technol Assess

214

143

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First trimester fetal nuchal translucency: Problems with screening the general population 2.

Cited by 122 publications

References 7 publications

Nuchal Translucency Measurements for First-Trimester Screening: The ‘Price’ of Inaccuracy

Nuchal Translucency Measurements for First-Trimester Screening: The ‘Price’ of Inaccuracy

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis

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