A histological and radiological investigation of the nasal bone in fetuses with Down syndrome

Tuxen, Anette; Keeling, Jean W.; Reintoft, Ingermarie; Hansen, Birgit Fischer; Nolting, Dorrit; Kjær, Inger

doi:10.1002/uog.152

Cited by 52 publications

(51 citation statements)

References 23 publications

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“…Similar findings were reported in the FASTER study, where none of the trisomy 21 fetuses showed the absence of nasal bone; however, this study is criticized based on the nasal bone evaluation technique used [13] . The findings of our study are consistent with postmortem studies which reported that onefourth to one-third of trisomy 21 fetuses have 'absent nasal bones' [17,18] . The reliability of ultrasound assessment of nasal bone is questioned in some postmortem studies.…”

Section: Discussionsupporting

confidence: 82%

See 1 more Smart Citation

Fetal Nasal Bone Assessment in First Trimester Down Syndrome Screening

Has¹,

Kalelioğlu²,

Yüksel³

et al. 2008

Fetal Diagn Ther

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Objective: To evaluate the contribution of nasal bone assessment in the first trimester Down syndrome screening. Methods: The fetuses which underwent first trimester screening with nuchal translucency (NT) measurement were evaluated for the absence or presence of nasal bone according to the instructions described by the Fetal Medicine Foundation, London. Results: Among the 1,807 fetuses included in the study, 9 had trisomy 21. The detection rate of Down syndrome with NT measurement was 77.8% (7/9) with a false-positive rate of 4.5%. Incorporation of biochemical tests (PAPP-A, and free β-hCG measurement) into the screening increased the detection rate to 88.9% (8/9) and decreased the false-positive rate to 3.6%. The prevalence of absent nasal bone was 7/1,798 (0.39%) in chromosomally normal fetuses, and 3/9 (33.3%) in Down syndrome fetuses. Sensitivity, specificity, positive predictive and negative predictive values of absence of nasal bone for trisomy 21 are 33.3% (CI: 0.12–0.64), 99.6% (CI: 0.99–0.99), 30% (95% CI: 0.11–0.53) and 99.7% (95% CI: 0.99–0.99), respectively. The positive likelihood ratio of absent nasal bone was 85.6 (95% CI: 26.2–279.5), and the negative likelihood was 0.67 (95% CI: 0.42–1.06). When nasal bone assessment was incorporated into the NT risk assessment or combined test, the detection rate of trisomy 21 was not changed, however, the false-positive rate decreased to 3.4 and 3%, respectively. Conclusion: The absence of fetal nasal bone has a high positive likelihood ratio for Down syndrome in the first trimester screening, and the presence of nasal bone may potentially lower the need for invasive testing.

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Section: Discussionsupporting

confidence: 82%

“…The nasal bone was found to be absent in 33% (3/9) of fetuses with trisomy 21 in our study, which is lower than in the initial reports which usually reported around 70% [1,5,6,9,14,18,19] . However, this figure is consistent with recent publications reporting a lower prevalence in unselected populations [9,16] .…”

Section: Discussioncontrasting

confidence: 55%

Fetal Nasal Bone Assessment in First Trimester Down Syndrome Screening

Has¹,

Kalelioğlu²,

Yüksel³

et al. 2008

Fetal Diagn Ther

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“…14,15 Of the aneuploid fetuses who did have a detectable nasal bone, it was considerably shorter and less ossified when compared with euploid counterparts. 16 Cicero et al 17 reported that the absence of a nasal bone during the first trimester had a likelihood ratio of 27.8 (95% CI, 23.1-33.5) for the detection of trisomy 21. This finding was recently extended to the second trimester by both Bromley et al 8 and Odibo et al 10 The data from our study indicate that in a high-risk population, with a prevalence of 1.2% for Down syndrome, an absent nasal bone in the second trimester is associated with trisomy 21.…”

Section: Discussionmentioning

confidence: 99%

Second-Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21

Tran

Carr

Mitsumori

et al. 2005

Journal of Ultrasound in Medicine

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Objective. The purpose of this study was to evaluate the association between the second-trimester fetal biparietal diameter/nasal bone length (BPD/NBL) ratio and trisomy 21. Methods. Thirty-one cases of trisomy 21 for which complete ultrasound images included the nasal bone were identified from the University of Washington prenatal diagnosis database and matched to 136 euploid fetuses based on maternal age, indication for referral, and gestational age. Results. The mean NBL was shorter (mean ± SD, 2.3 ± 1.7 mm versus 3.9 ± 1.2 mm; P < .001) and the BPD/NBL ratio was greater (17.7 [range, 6.2-114] versus 11.7 [range, 5.8-80]; P < .001) in the fetuses with trisomy 21. The risk of trisomy 21 increased 2.4-fold (95% confidence interval [CI], 1.7-3.4) with every 1-mm decrease in NBL and increased 1.08-fold (95% CI, 1.03-1.12) with each unit increase in the BPD/NBL ratio (P < .001). A multiple logistic regression model was constructed and included the BPD/NBL ratio, maternal indications (age ≥35 years, positive serum screening results, or both, yielding a risk of <1 per 270 for trisomy 21), and sonographic markers as covariates. The BPD/NBL ratio was found to be an independent predictor of trisomy 21 (odds ratio, 1.08; 95% CI, 1.03-1.11). An analysis of receiver operating characteristic curves revealed an improvement after the BPD/NBL ratio was added to a model containing the current second-trimester screening based on maternal age, serum screening, and sonographic markers (receiver operating characteristic curve area, mean ± SE, 0.89 ± 0.03 for the model with the BPD/NBL ratio versus 0.76 ± 0.06 without the BPD/NBL ratio; P = .009). Conclusions. The secondtrimester BPD/NBL ratio was a significant and independent predictor of trisomy 21. An assessment of the BPD/NBL ratio may improve the diagnosis of trisomy 21 when used with current prenatal screening practices. Key words: nasal bone length; screening; trisomy 21; ultrasound. Current second-trimester screening for aneuploidy includes maternal serum screening and targeted ultrasound evaluation. A number of sonographic abnormalities or "soft markers" have been associated with trisomy 21; some authors have combined these results to provide a risk score or probability for trisomy 21. 3,4 The goal of such prenatal screening programs is accurate detection of fetal aneuploidy and avoidance of unnecessary invasive diagnostic testing. For this purpose, ultrasound has proved to be an invaluable diagnostic and screening tool. The absence of the fetal nasal bone on prenatal sonogra- Received December 6, 2004, from the Department of Obstetrics and Gynecology, Division of MaternalFetal Medicine of Perinatal Medicine (L.T.T., D.B.C., S.B.U., L.E.S.), and Department of

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“…Given the high rate of attrition (i.e. spontaneous loss) of Down syndrome fetuses 3 in early pregnancy and the strong association of an absent nasal bone with Down syndrome 4,5 , it is expected that, apart from the ethnic variations, the prevalence of an absent nasal bone will be determined largely by the incidence…”

Section: Absent Nasal Bone: Applying the Right Terminology And Interpmentioning

confidence: 99%

“…One 4 compared the sonographic findings of the nasal bone in trisomy 21 fetuses with the pathomorphological studies, and in the vast majority of cases with the nasal bone being described at ultrasound as absent or hypoplastic (16/17), the presence of an ossification center was reported. The second paper 5 was a histological and radiological investigation of 33 trisomy 21 fetuses, showing the absence of the nasal bone in one third of the affected fetuses.…”

mentioning

confidence: 99%