Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia

Bakker, M.; Pace, Margherita; Jong-Pleij, Els de; Birnie, Erwin; Kagan, Karl Oliver; Bilardo, Caterina M.

doi:10.1159/000449099

Cited by 22 publications

(47 citation statements)

References 20 publications

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“…Retrospective assessment of the images of anomalies missed by non-FMF-trained sonographers (3 spina bifida cases and of 4/5 facial clefts) showed that early markers of abnormal development, such as absent intracranial translucency [14] and abnormal maxilla-nasion-mandible angle, were clearly visible [15]. This suggests that further training in recognition of these markers might have increased detection of these cases.…”

Section: Discussionmentioning

confidence: 98%

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Bardi

Smith²,

Kuilman³

et al. 2018

Fetal Diagn Ther

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Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment. Materials and Methods: US scans performed between 11⁺⁰ and 13⁺⁶ weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Results: Of all scans, 38.6% were dating scans and 61.4% were part of first-trimester screening. Anomalies were diagnosed prenatally in 200 (1.8%) fetuses; 81 (0.7%) were chromosomal and 119 (1.1%) were structural. Of all prenatally detected anomalies, 27% (n = 32) were detected at first-trimester scan, with a false-positive rate of 0.04%. All cases of anencephaly (n = 4), encephalocele (n = 2), exomphalos (n = 9), megacystis (n = 4), and limb reduction (n = 1) were diagnosed. First-trimester detection of gastroschisis and congenital heart defects was 67 and 19%, respectively. Conclusion: In a primary care setting, global fetal anatomical assessment at first-trimester scan without following a standardized protocol detects about 30% of all structural anomalies and most of the severe anomalies, with an extremely low false-positive rate. We hypothesize that additional training and use of a systematic protocol would improve early detection of structural anomalies.

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Section: Discussionmentioning

confidence: 98%

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Bardi

Smith²,

Kuilman³

et al. 2018

Fetal Diagn Ther

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“…Bakker et al berichteten, dass die pränasale Dicke bei etwa einem Drittel der aneuploiden Feten über der 97,5ten Perzentile liegt [50]. Die "prefrontal space ratio" aus dem zweiten Trimenon wurde etwas vereinfacht als "prefrontal space distance" untersucht [53].…”

Section: Auffälligkeiten Im Bereich Des Mittelgesichtsunclassified

Das fetale Profil im ersten Trimenon – mehr als nur NT

Hoopmann¹,

Kagan²

2017

Ultraschall in Med

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The midsagittal view of the fetal profile is essential in first trimester screening at 11 + 0 to 13 + 6 weeks of gestation. None of the standard sections in prenatal medicine is as well defined and undergoes such a strong quality assurance program. These requirements were recently challenged by the introduction of cell-free DNA screening. The fetal profile view was previously only needed for the appropriate measurement of the fetal nuchal translucency thickness. In recent years, it became evident that there are many more anomalies or markers for fetal defects that can be seen in this section such as spina bifida, facial clefts or retrognathia. The aim of this review is to summarize the additional information that can be gained from the fetal profile view.

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“…The Fetal Medicine Foundation and associated research groups, often trained by the Fetal Medicine Foundation, have developed algorithms/markers used in daily clinical practice at 11–13 weeks to detect high-risk populations for an adverse pregnancy outcome such as fetal defects, chromosomal abnormalities, premature birth, and pre-eclampsia [4-10, 12, 13, 15-18]. Implementing those, we have learned that it is always better in a clinical setting to collect and combine all valid available information to reduce false positive rates and increase detection rates.…”

Section: Discussionmentioning

confidence: 99%

“…Our suggested combined approach to detect or exclude high-risk pregnancies for CLP would imply maxillary gap sign and measurement of PMD assessed in mid-/parasagittal views at the same time of nuchal translucency evaluation and coronal cross-sections as described by Sepulveda et al [13]. Other markers described by Bakker et al [18], such as the maxilla-nasion-mandible angle and 3D sonography as described by Martinez-Ten et al [19] using multiplanar cross-sections, could also be included using a combined approach. However, limitations we experienced using the maxilla-nasion-mandible angle as a marker are, firstly, the frontal portion of the maxilla which is often differently shaped and, secondly, implementing an angle with minute measurements.…”

Section: Discussionmentioning

confidence: 99%

Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11–13 Weeks

Lachmann¹,

Schilling²,

Brückmann³

et al. 2017

Fetal Diagn Ther

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Objective: To evaluate the maxillary gap sign and describe markers for the first-trimester diagnosis of isolated cleft lip and palate (CLP) at 11–13 weeks. Methods: Firstly, this was a prospective assessment of 1,087 fetuses including 5 cases of isolated CLP in 2 centers which were referred for the 11–13 weeks scan. Secondly, intra- and interobserver variability of the maxillary gap sign was evaluated for observers R.L. and A.B. in 2 sessions (affected cases vs. 50 normal fetuses in each session) to reduce the bias of different ultrasound manufacturer visualizations (Philips, GE). Thirdly, the palatino-maxillary diameter (PMD) was examined in stored images, DICOM loops and volumes of the midsagittal and parasagittal view of the fetal head and brain at 11⁺⁰–13⁺⁶ weeks of gestation from 5 fetuses with isolated CLP and 302 consecutively assessed normal controls. The PMD values in fetuses with isolated CLP and normal controls were compared. Results: Firstly, 5 out of 6 referred pregnancies with isolated CLP were detected prospectively using the midsagittal view for measurement of nuchal translucency due to an abnormal appearance. One out of 6 patients with isolated CLP declined the 11–13 weeks scan. Secondly, intra- and interobserver variability showed no false positive cases; all cases with isolated CLP were identified by both sonographers; however, in 2 cases the maxillary gap sign was doubtful. Therefore, thirdly, we developed the PMD measurement which increased significantly with crown-rump length (CRL) from respective mean values at CRL of 45 mm to 4.66 mm and to 8.95 mm at CRL of 84 mm. In the CLP group, the PMD was below the 5th percentile of the control group in 4 out of 5 (80%) cases. Conclusions: The midsagittal view for measurement of nuchal translucency shows a high reproducibility regarding abnormal views for maxillary gap sign. In the midsagittal view of the fetal head, face, and brain at 11–13 weeks, the majority of fetuses with isolated CLP have a measurable abnormality in addition, the PMD.

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Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia

Cited by 22 publications

References 20 publications

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands

Das fetale Profil im ersten Trimenon – mehr als nur NT

Isolated Cleft Lip and Palate: Maxillary Gap Sign and Palatino-Maxillary Diameter at 11–13 Weeks

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