The nasal bone in fetuses with trisomy 21: sonographic versus pathomorphological findings

Minderer, S.; Kp, Gloning; Henrich, Wolfgang; Stöger, H

doi:10.1002/uog.160

Cited by 41 publications

(32 citation statements)

References 9 publications

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“…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%

“…The reliability of ultrasound assessment of nasal bone is questioned in some postmortem studies. Minderer et al [19] reported that nasal bones were present in pathomorphological examination in 14 of 15 fetuses with trisomy 21 which were assigned as having absent or hypoplastic nasal bone in prenatal ultrasound examination. In another study, in which ultrasound findings were compared with post-termination X-ray findings, the false-negative and false-positive rates for ultrasound examination with reference to X-ray were reported as 55.5% (5/9) and 40% (4/10), respectively [20] .…”

Section: Discussionmentioning

confidence: 99%

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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: Discussioncontrasting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Fetal Nasal Bone Assessment in First Trimester Down Syndrome Screening

Has¹,

Kalelioğlu²,

Yüksel³

et al. 2008

Fetal Diagn Ther

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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%

Nasal bone and trisomy 21: prenatal ultrasound and postmortem morphohistological study

Rustico

Bussani

Silvestri

2004

Ultrasound in Obstet & Gyne

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“…It was worth noting that in almost all studies, only the presence or absence of NB was noted and not the NB measurement. Yet, Minderer et al [14] showed, while comparing the ultrasound and histopathological data of seventy foetuses at fi rst trimester, that NB should not be defi ned as present or absent, but as normal or hypoplasic. The possibility of confusion between an absent NB and an unfeasible measurement in our sonographers' mind had to be taken into account.…”

Section: Discussionmentioning

confidence: 99%

“…But Senat et al [10] found only 80.7% of correlations between 3 sonographers who studied the presence or absence of NB on 1,040 fi rst-trimester foetuses, and concluded that the NB assessment was not reproductible at this term. For Cicero, a competence for experimented sonographers in the determination of NB presence or absence at fi rst trimester required a minimum of 80 (40-120) ultrasounds [14] . Only Kanellopoulos studied the measurement of NB in 501 fi rst-trimester foetuses; 4 trained sonographers analysed consecutively foetal profi le.…”

Section: Discussionmentioning

confidence: 99%

Interest of Foetal Nasal Bone Measurement at First Trimester Trisomy 21 Screening

Weingertner¹,

Köhler²,

Firtion³

et al. 2006

Fetal Diagn Ther

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Objectives: The purpose of this study is to assess the feasibility of foetal nasal bone (NB) measurement during the first trimester of pregnancy, and to examine the contribution of this measurement to the prenatal screening for Down syndrome following the definition of NB threshold using ROC curves in an unselected population. Methods: This prospective study was carried out at our centre SIHCUS-CMCO (reference centre) from January 2002 to December 2004 on a total of 2,044 pregnant outpatients at gestational weeks 11–14. Only 1260 singleton foetuses were used for statistical analysis. In the 784 other patients, we were unable to obtain a correct image allowing a reproducible measurement. NB was measured during the same session as nuchal translucency (NT) measurement. Ten trained sonographers took part in the study. Correlation index was evaluated to shed light on a link between interest variables and NB. Screening values of NB measurement in T 21 were also calculated with NB measurement according to crown-rump length, and expressed as the best threshold of multiple of the median determined by ROC curve. Screening values of genetic ultrasound were then evaluated by adding NB measurement to maternal age and NT measurement. Results: Two thousand and forty-four patients were included. We indexed 30 cases of T 21, 14 cases of Trisomy 18, 10 cases of Trisomy 13 and 25 cases of other karyotype abnormalities. Feasibility of measurement was 62% of all cases. We observed a significant relation between NB and NT (p = 0.001 ), as well as between NB and crown-rump-length (p < 0.0001 ). However, size of NB was not correlated to maternal ethnic group (p = 0.314). At 0.6 multiple of the median thresholds, screening values of NB measurement in T 21 were: sensibility 32%, false positive rate 10%, positive predictive value 13.6%, and negative predictive value 96.9%. The likelihood ratio for T 21 in case of NB ≤ 0.6 multiple of the median was 4.4 (2.0–9.4). Screening values for maternal age and NT measurement were: sensitivity 88%, false positive rate 23%,positive predictive value 9.7%, and negative predictive value 99.6%. Inclusion of NB measurement increased sensitivity to 100%, positive predictive value to 13.6%, and negative predictive value to 100%, and decreased false positive rate to 5%. Conclusion: NB measurement seemed to be a great sonographic marker for T 21. However, its low feasibility made it inadequate for routine settings in first trimester T 21 screening in an unselected population. Statistical independence with NT thickness needed to be further evaluated.

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The nasal bone in fetuses with trisomy 21: sonographic versus pathomorphological findings

Cited by 41 publications

References 9 publications

Fetal Nasal Bone Assessment in First Trimester Down Syndrome Screening

Fetal Nasal Bone Assessment in First Trimester Down Syndrome Screening

Nasal bone and trisomy 21: prenatal ultrasound and postmortem morphohistological study

Interest of Foetal Nasal Bone Measurement at First Trimester Trisomy 21 Screening

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