Assessment of Midfacial Hypoplasia in Down Syndrome Fetuses – Validity of a Two-Line Approach and Introduction of a Novel Angle (Maxilla-Mandible-Nasion Angle)

Weichert, J.; Gembicki, M; Ribbat‐Idel, Julika; Hartge, D.R.

doi:10.1055/s-0042-106397

Cited by 7 publications

(6 citation statements)

References 30 publications

(31 reference statements)

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“…Interestingly, a second‐ and third‐trimester study reported that there were no normal fetuses with a negative facial profile line, which is consistent with our findings 18 . Weichert et al 19 . found the maxilla‐nasion‐mandible angle to be smaller in trisomy‐21 fetuses than in euploid fetuses in the second trimester of pregnancy.…”

Section: Discussionsupporting

confidence: 91%

“…0 .0 0 1 0 .0 1 0 .1 0 .3 0 .5 0 .7 0 .9 0 .9 9 0 .9 9 9 reported that there were no normal fetuses with a negative facial profile line, which is consistent with our findings 18 . Weichert et al 19 found the maxilla-nasion-mandible angle to be smaller in trisomy-21 fetuses than in euploid fetuses in the second trimester of pregnancy. We found a similar relationship in our study, suggesting that this angle could be effective in the prediction of trisomy 21 in the first trimester.…”

Section: Comparison With Previous Studiesmentioning

confidence: 98%

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Application of an individualized nomogram in first‐trimester screening for trisomy 21

Sun

Zhang

Dong

et al. 2021

Ultrasound in Obstet & Gyne

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Objectives To develop and validate a nomogram based on fetal nuchal translucency thickness (NT) and ultrasonographic facial markers for screening for trisomy 21 in the first trimester of pregnancy. Methods This was a retrospective case–control study using stored two‐dimensional midsagittal fetal profile images captured at 11 + 0 to 13 + 6 weeks' gestation in singleton pregnancies. We included images from 302 trisomy‐21 pregnancies and 322 euploid pregnancies. Cases were divided into a training set (200 euploid + 200 with trisomy 21) and a validation set (122 euploid + 102 with trisomy 21) at a ratio of approximately 2:1. For each, the maternal age, gestational age, fetal NT and karyotype were noted, and 12 ultrasonographic fetal facial markers were measured. The least absolute shrinkage and selection operator (LASSO) method and multivariable analysis were used to select automatically the discriminative markers. Logistic regression was used to develop a LASSO model, based on the selected markers, to screen for trisomy 21 in the first trimester of pregnancy. Furthermore, 60 of the 624 images were selected randomly as a retest set to evaluate the model's robustness. The predictive performance of screening for trisomy 21 of a model based on fetal NT and maternal age and of the LASSO model was assessed using the area under the receiver‐operating‐characteristics curve (AUC). A nomogram was developed as an individualized tool to predict patient‐specific probability for trisomy 21, which is a more visual presentation of the LASSO model. The performance of the nomogram was assessed using the C‐index and calibration curve. Results Into the LASSO model were incorporated eight markers, including fetal NT, prenasal‐thickness‐to‐nasal‐bone‐length ratio, facial profile line, frontomaxillary facial angle, frontonasal facial angle, mandibulomaxillary facial angle, maxilla‐nasion‐mandible angle and d2 (distance between the anterior edge of the prefrontal skin and the mandibulomaxillary line) (all P < 0.05). The AUCs of the LASSO model for screening for trisomy 21 were 0.983 (95% CI, 0.971–0.994) in the training set and 0.979 (95% CI, 0.966–0.993) in the validation set, and these were higher than the AUCs of all eight individual ultrasonographic markers included in the model. The AUC of the LASSO model in the retest set was 0.997 (95% CI, 0.990–1.000), indicating good robustness of the LASSO model. The AUC of the LASSO model was significantly higher than that of the model based on fetal NT and maternal age in both training and validation sets (P < 0.001 for both). The nomogram of the LASSO model showed good discrimination of trisomy 21, with C‐indices of 0.983 in the training set and 0.981 in the validation set. Conclusions We present an individualized nomogram which incorporates fetal NT and a series of ultrasonographic facial profile markers selected by the LASSO method and multivariable analysis. This nomogram can potentially be utilized as a convenient and effective tool in screening for trisomy 21 in the first trimest...

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Section: Discussionsupporting

confidence: 91%

Section: Comparison With Previous Studiesmentioning

confidence: 98%

Application of an individualized nomogram in first‐trimester screening for trisomy 21

Sun

Zhang

Dong

et al. 2021

Ultrasound in Obstet & Gyne

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“…The MMN angle was measured as introduced by Weichert et al 11 First, three facial landmarks were identified: the most anterior portion of the mandible, the most anterior portion of the maxilla, and the nasion (defined as the intersection of the frontal and nasal bones). Next, two lines originating at the anterior edge of the mandible were drawn: one connecting it with the nasion (fetal profile line, FPL) and one connecting it with the anterior edge of the maxilla (mandibulo‐maxillary line, MML), resulting in the MMN angle (Figure 1).…”

Section: Methodsmentioning

confidence: 99%

“…Recently, the maxilla‐mandible‐nasion (MMN) angle has been introduced by Weichert et al to identify midfacial hypoplasia in trisomy 21 in the second trimester of pregnancy 11 . The MMN angle combines the fetal profile line (FPL), 12 which provides information about forehead anomalies and/or anomalies of the maxilla‐mandible complex, with the mandibulo‐maxillary line.…”

Section: Introductionmentioning

confidence: 99%

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Assessment of the maxilla‐mandible‐nasion angle in normal and aneuploid foetuses in the first trimester of pregnancy

Tekesin¹,

Graupner²

2020

J of Clinical Ultrasound

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PurposeThis retrospective study aims to determine whether the maxilla‐mandible‐nasion (MMN) angle can be reliably measured in the first trimester, to describe normal ranges, and to determine if significant changes occur in foetuses with aneuploidies.MethodsThe MMN angle was measured in stored 2D‐ultrasound images of 200 normal fetal profiles between 11+0 and 13+6 weeks of gestation. Each image was analyzed by two observers at two independent time points. Bland‐Altmann analysis was performed to evaluate the reliability of the measurements. Additionally, the MMN angle was measured on sonograms from 140 aneuploid foetuses.ResultsThe mean MMN angle in normal foetuses from 11 to 14 weeks of gestation was 15.4°. Reliability of the measurement was high when repeatedly measured by the same observer (ICC = 0.92 and 0.82) and between two observers (ICC = 0.77 and 0.63). Average MMN values in foetuses with trisomy 21, 13, and Turner syndrome were significantly higher than those measured in normal foetuses. The highest differences were observed in foetuses with trisomy 13. Among those, 62% had an MMN angle above the 95th percentile and 92% above the normal mean.ConclusionThe MMN angle can be reliably measured in early pregnancy and is abnormal in about 60% of foetuses with trisomy 13.

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Prenatal Diagnosis of Severe Midfacial Hypoplasia Using 3D Ultrasound

Tonni

Passos

Lituania

2017

Prenatal Diagnosis of Orofacial Malformations

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Assessment of Midfacial Hypoplasia in Down Syndrome Fetuses – Validity of a Two-Line Approach and Introduction of a Novel Angle (Maxilla-Mandible-Nasion Angle)

Cited by 7 publications

References 30 publications

Application of an individualized nomogram in first‐trimester screening for trisomy 21

Application of an individualized nomogram in first‐trimester screening for trisomy 21

Assessment of the maxilla‐mandible‐nasion angle in normal and aneuploid foetuses in the first trimester of pregnancy

Prenatal Diagnosis of Severe Midfacial Hypoplasia Using 3D Ultrasound

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