Prefrontal space ratio in second‐ and third‐trimester screening for trisomy 21

Yazdi, B.; Sonek, Jiri; Oettling, Christoph; Hoopmann, Markus; Abele, Harald; Schaelike, M.; Kagan, K. O.

doi:10.1002/uog.12261

Cited by 24 publications

(67 citation statements)

References 14 publications

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“…These results are compatible with those of previous studies [1,2,3,4,5,6,7] and suggest that measurement of the PFSR may provide an effective method of screening for trisomy-21 in the second-trimester of pregnancy.…”

Section: Discussionsupporting

confidence: 82%

“…The equivalent of the PFSR in previous studies [6,7], derived from our measurements, was 0.371 (SD 0.249) in trisomy-21 and 1.174 (SD 0.182) in euploid pregnancies (p < 0.0001), the AUROC in screening for trisomy-21 was 0.996 (95% CI 0.981-0.999) and the detection rate was 100% (95% CI 92.1-100.0) at a false-positive rate of 5%.…”

Section: Resultsmentioning

confidence: 99%

“…In both groups of fetuses the median D2 increases with GA but with advancing gestation trisomy-21 is characterized by progressive relative shortening in D2. One possible explanation for this finding is provided by the suggestion that movement of the tongue plays an important role in normal development of the upper palate and that in trisomy-21 palatal growth is impaired by progressive hypotonia of the tongue [7]. …”

Section: Discussionmentioning

confidence: 99%

“…In the previous studies on PFSR [6,7], their d1 was equivalent to our D1, their d2 was equivalent to our D2-D1 and their PFSR was derived by dividing d2 by d1, which is equivalent to our D2-D1 divided by D1.…”

Section: Methodsmentioning

confidence: 99%

“…Another study of stored two-dimensional images of fetal profiles from 91 trisomy-21 fetuses and 279 euploid fetuses at 15-40 weeks' gestation similarly reported that the PFSR in trisomy-21 fetuses (mean 0.2, SD 0.38) was lower than in euploid fetuses (mean 0.97, SD 0.29) [7]. In both studies the PFSR was highly reproducible, it did not change significantly with gestational age (GA) and it was substantially lower in trisomy-21 than in euploid fetuses, suggesting that this sonographic measurement may provide effective second-trimester screening for trisomy-21.…”

Section: Introductionmentioning

confidence: 99%

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Second-Trimester Screening for Trisomy-21 Using Prefrontal Space Ratio

et al. 2013

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Objective: To investigate the potential value of prefrontal space ratio (PFSR) in second-trimester screening for trisomy-21. Methods: A retrospective study utilizing stored midsagittal two-dimensional images of fetal profiles in 240 euploid and 45 trisomy-21 pregnancies at 16⁺⁰-23⁺⁶ weeks' gestation. The vertical distance between the leading edge of the skull and that of the skin (D1) and the distance between the skull and the mandibulo-maxillary line (D2) were measured and the D1:D2 ratio (PFSR) was calculated. In euploid pregnancies, regression analysis was used to determine the association between D1, D2 and PFSR with gestational age (GA). D1 and D2 were expressed as delta (Δ) values with gestational age. ΔD1, ΔD2 and PFSR in cases and controls were compared. Results: In trisomy-21, compared to controls, ΔD1 was increased (1.417 vs. 0.000 mm, p < 0.0001), ΔD2 was decreased (-0.842 vs. 0.000 mm, p = 0.003) and PFSR was increased (0.753 vs. 0.463, p < 0.0001). At a false-positive rate of 5%, the detection rates in screening by ΔD1, ΔD2 and PSFR were 80.0% (95% CI 65.4-90.4), 46.7% (95% CI 31.7-62.1) and 100.0% (95% CI 92.1-100.0), respectively. Conclusion: The PFSR is an effective marker in second-trimester screening for trisomy-21.

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Section: Discussionsupporting

confidence: 82%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Second-Trimester Screening for Trisomy-21 Using Prefrontal Space Ratio

et al. 2013

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Development and Validation of a Deep Learning Model to Screen for Trisomy 21 During the First Trimester From Nuchal Ultrasonographic Images

et al. 2022

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IMPORTANCEAccurate screening of trisomy 21 in the first trimester can provide an early opportunity for decision-making regarding reproductive choices. OBJECTIVE To develop and validate a deep learning model for screening fetuses with trisomy 21 based on ultrasonographic images. DESIGN, SETTING, AND PARTICIPANTS This diagnostic study used data from all available cases and controls enrolled at 2 hospitals in China between January 2009 and September 2020. Two-dimensional images of the midsagittal plane of the fetal face in singleton pregnancies with gestational age more than 11 weeks and less than 14 weeks were examined. Observers were blinded to subjective fetus nuchal translucency (NT) marker measurements. A convolutional neural network was developed to construct a deep learning model. Data augmentation was applied to generate more data. Different groups were randomly selected as training and validation sets to assess the robustness of the deep learning model. The fetal NT was shown and measured. Each detection of trisomy 21 was confirmed by chorionic villus sampling or amniocentesis. Data were analyzed from

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