Screening for trisomy 21 with ultrasonographic determination of biparietal diameter/femur length ratio

Marquette, Gérald P.; Boucher, Marc; Desrochers, Micheline; Dallaire, Louis

doi:10.1016/0002-9378(90)90636-l

Cited by 21 publications

(6 citation statements)

References 2 publications

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“…Bahado-Singh 54 Gray 80 Benacerraf 58 Lockwood 85 Watson 97 Benacerraf 59 Crane 68 Lynch 27 Benacerraf 60 Nyberg 90 Bromley 64 Benacerraf Nyberg 40 Lockwood 85 Rodis 91 Cuckle 69 Nyberg 89 Benacerraf 38 Grandjean 77 Benacerraf 59 Johnson 82 Lynch 27 Verdin 93 Lockwood 43 Grist 81 Biagotti 61 Bromley 64 Ginsberg 76 Benacerraf 60 Johnson 83 Benacerraf 58 Campbell 66 Brumfield 65 Nyberg 90 Vintzileos 96 Hill 26 Shah 92 Dicke 72 Nyberg 44 Lafollette 84 Marquette 87 Echogenic Bowel Nyberg 40 Nyberg 89 Lockwood 85 Rodis 91 Biagotti 61 Benacerraf 60 Benacerraf 59 Benacerraf 58 Vintzileos 9...…”

Section: Ginsberg 76mentioning

confidence: 97%

Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome

Smith‐Bindman

Hosmer²,

Feldstein³

et al. 2001

JAMA

293

181

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A thickened nuchal fold in the second trimester may be useful in distinguishing unaffected fetuses from those with Down syndrome, but the overall sensitivity of this finding is too low for it to be a practical screening test for Down syndrome. When observed without associated structural malformations, the remaining ultrasonographic markers could not discriminate well between unaffected fetuses and those with Down syndrome. Using these markers as a basis for deciding to offer amniocentesis will result in more fetal losses than cases of Down syndrome detected, and will lead to a decrease in the prenatal detection of fetuses with Down syndrome.

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Section: Ginsberg 76mentioning

confidence: 97%

Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome

Smith‐Bindman

Hosmer²,

Feldstein³

et al. 2001

JAMA

293

181

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“…Even though fetal femur length would theoretically be an ideal component of a genetic sonogram because it is easy to obtain, we did not ®nd it a useful parameter to discriminate between trisomy 21 and euploid fetuses. A review of the published series on the subject reveals that the regression lines of FL on BPD were not signi®cantly different between Down syndrome and euploid fetuses in six other centres in addition to ours (LaFollette et al, 1989;Lynch et al, 1989;Marquette et al, 1990;Shah et al, 1990;Perrella et al, 1988;Winston and Horger, 1988). Six additional centres found that the regression lines of FL versus BPD were statistically different between Down syndrome and euploid fetuses, suggesting that true biologic differences may exist.…”

Section: Discussionmentioning

confidence: 83%

Critical reappraisal of the utility of sonographic fetal femur length in the prediction of trisomy 21

et al. 2000

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Measurement of femur length (FL) has been advocated as part of a genetic sonogram for the prediction of Down syndrome (DS). However its predictive ability has been inconsistent. We have studied the diagnostic value of this sonographic parameter in a prospective cohort of women with singleton gestations undergoing genetic sonogram between 14 and 22 weeks because of advanced maternal age or family history of aneuploidies. Genetic sonograms were performed at a mean gestational age of 17.0 weeks (range 14-22). DS was diagnosed in 30 fetuses, while 888 were euploid. Mean+/-SD observed/expected (O/E) values of FL (1.00+/-0.10 versus 0.97+/-0.01, p=0.07) were not significantly different between euploid and DS fetuses. Comparison of the regression equations of FL versus biparietal diameter revealed that while the intercepts were not significantly different between euploid and DS fetuses, the difference in slopes reached significance (p=0.04) suggesting that the predictive ability of FL may increase with advancing gestational age. In addition, a MEDLINE search (National Library of Medicine) was conducted for articles published between 1985 and 1998 on fetal femur length in the prediction of trisomy 21. Review of the published literature on the subject suggests that FL is not a consistent or reliable sonographic predictor of DS. Published thresholds of FL should not be used outside of the Institution from which they originated, and each Institution should establish whether this parameter has predictive ability in its own population.

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“…Others have reported their experience with using femur length ratios to detect fetuses with Down syndrome [16,[20][21][22][23][24][25][26][27][28]. Their opinions are conflicting and it is difficult to come to a consensus about their results.…”

Section: Discussionmentioning

confidence: 99%

“…Their opinions are conflicting and it is difficult to come to a consensus about their results. Some report that the methodology is beneficial [16,[20][21][22], and others see no benefit [23][24][25][26][27][28], The efficacy evaluation from these reports (ta ble 4) suggests that an investigators' opinion of this methodology depends on how they interpret the data. Comparison of reports that find femur length ratios beneficial in detect ing Down syndrome cases versus reports that do not find it beneficial, reveals considerable variation and overlap of the efficacy results (sensitivity, specificity, positive predictive value, negative predictive, false-positive rate) between these two viewpoints.…”

Section: Discussionmentioning

confidence: 99%

Efficacy of the Biparietal Diameter/Femur Length Ratio to Detect Down Syndrome in Patients with an Abnormal Biochemical Screen

et al. 1994

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Abnormal fetal biometry is considered a marker for fetal trisomy. We prospectively evaluated the biparietal diameter/femur length ratio to identify Down syndrome fetuses. This ratio was calculated when women (< 35 years old) underwent an amniocentesis for an abnormal biochemical screen for Down syndrome. Using reported ratio cut-offs (> 1.5 SD above the mean), the ratio had a sensitivity of 50% (3/6), specificity of 92% (244/264), positive predicitive value of 13% (3/23), negative predictive value of 99% (244/247), and a relative risk of 10.8. Using our own population ratio, a cut-off > 1.5 SD had a sensitivity of 50% (3/6), specificity of 94% (249/252), positive predictive value of 17% (3/18), negative predictive value of 99% (249/252) and a relative risk of 13.9. A lower cut-off decreased the efficacy to detect Down syndrome. A ratio > 1.5 SD above the mean is a useful adjunct to identify Down syndrome in pregnancies at risk by an abnormal biochemical screen.

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Screening for trisomy 21 with ultrasonographic determination of biparietal diameter/femur length ratio

Cited by 21 publications

References 2 publications

Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome

Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome

Critical reappraisal of the utility of sonographic fetal femur length in the prediction of trisomy 21

Efficacy of the Biparietal Diameter/Femur Length Ratio to Detect Down Syndrome in Patients with an Abnormal Biochemical Screen

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