Frontomaxillary facial angles in screening for trisomy 21 at 14-23 weeks’ gestation

Sonek, Jiri; Borenstein, M.; Downing, Cathy; McKenna, David S.; Neiger, Ran; Croom, Christopher S.; Genrich, Toby; Nicolaides, Kypros H.

doi:10.1016/j.ajog.2007.03.059

Cited by 46 publications

(54 citation statements)

References 16 publications

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“…In second-trimester fetuses with trisomy-21 there is increased prenasal skin thickness and midfacial hypoplasia manifested in shortening and/or dorsal displacement of the maxilla [1,2,3,4,5]. Sonek et al [6] proposed a new method of screening for trisomy-21 which exploits these two features of affected fetuses.…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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

et al. 2013

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“…In 2 previous studies, the overall mean frontomaxillary facial angles in euploid fetuses were 78.1° between 11 weeks and 13 weeks 6 days and 83.9° between 16 and 25 weeks without a significant association between the frontomaxillary facial angle and gestational age. 18,20 In another study between 16 and 25 weeks, the frontomaxillary facial angles decreased linearly with gestation, but the lower line used to measure the frontomaxillary facial angle in that study followed the edge of the vomer rather than the upper border of the palate, 19 whereas we measured the frontomaxillary facial angle between the top edge of the upper palate and the bony forehead. We selected the upper border of the palate rather than the vomer because the upper surface of the former is straight whereas that in the latter is usually convex.…”

Section: Discussionmentioning

confidence: 96%

“…The midfacial hypoplasia in Down syndrome can be shown by the shorter maxillary length, absent nasal bone, and frontomaxillary facial angle, which was significantly greater in fetuses with trisomy 21 than in euploid fetuses. [18][19][20][36][37][38][39] In fetuses with trisomy 18, it was reported that the frontomaxillary facial angle was greater and the mandibulomaxillary facial angle was smaller than those in normal fetuses because of midfacial hypoplasia and micrognathia or retrognathia. Fetal alcohol syndrome is characterized by evidence of growth restriction, neurodevelopmental abnormalities, and a characteristic pattern of facial anomalies, such as short palpebral fissures, midfacial hypoplasia, a smooth philtrum, minor ear anomalies, and micrognathia.…”

Section: A B Cmentioning

confidence: 99%

“…This technique differs from that used at 11 weeks to 13 weeks 6 days and the one used in other previous second-trimester retrospective studies. 18,19 The frontonasal angle was defined by a first line that connected the upper point of the forehead to the nasal bone and a second line that outlined the nasal profile to the nasal tip. 31 The maxilla-nasion-mandibular angle was defined as the angle between the lines of the maxillanasion and mandible-nasion.…”

Section: Sonographic Measurements For Craniofacial Inclinationmentioning

confidence: 99%

“…The frontomaxillary facial angle has been most extensively investigated in normal fetuses and fetuses with trisomy 21 as a method of quantifying the flat face of fetuses with trisomy 21. [18][19][20] Also, the effect of ethnic differences on the facial profile should be considered because it has been reported that ethnic differences are present for the nuchal translucency thickness, rates of visualization of the fetal nasal bone and its length, frontomaxillary angle, and other characteristics. [21][22][23][24][25][26][27][28][29][30] The aim of this study was to describe the normative sonographic appearance of the fetal facial profile in the exact midsagittal plane by 2D and 3D multiplanar sonography, with particular regard to craniofacial inclinations through the frontomaxillary facial, frontonasal angle, maxilla-nasion-mandibular, and mandibulomaxillary facial angles during gestation.…”

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confidence: 99%

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Craniofacial Inclination at 14 to 39 Weeks' Gestation in Normal Korean Fetuses

Lee

Choi

et al. 2012

Journal of Ultrasound in Medicine

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Objectives The purpose of this study was to evaluate a normal range for prenatal craniofacial inclination using images of fetal profiles at 14 to 39 weeks' gestation in normal Korean fetuses. Methods We conducted a cross‐sectional study of 308 normal fetuses at 14 to 39 weeks' gestation. After the exclusion of images with inadequate quality, the sagittal plane of the sonographic fetal facial profile from 250 normal fetuses was evaluated. The frontomaxillary facial, frontonasal, maxilla‐nasion‐mandibular, and mandibulomaxillary facial angles were measured and are presented according to gestational age. Results The overall mean frontomaxillary facial angle ± SD was 86.0° ± 7.6° between 14 weeks 6 days' and 39 weeks 2 days' gestation without a significant association between the frontomaxillary facial angle and gestational week. The overall mean frontonasal, maxilla‐nasion‐mandibular, and mandibulomaxillary facial angles were 125.8° ± 7.2°, 4.7° ± 3.3°, and 83.2° ± 8.5° between 14 weeks and 39 weeks 6 days. There was a significant linear correlation between gestational age and the frontonasal angle (r = −0.1534; P = .0187; y = −0.188 × gestational age + 130.7), maxilla‐nasion‐mandibular angle (r = −0.2773; P < .0001; y = −0.160 × gestational age + 9.0), and mandibulo‐maxillary facial angle (r = −0.2861; P < .0001; y = −0.432 × gestational age + 94.6). Conclusions We provide preliminary normative data for fetal facial angles related to craniofacial inclination across gestational ages in normal Korean fetuses. These data may be of help not only for the understanding of normal facial growth in utero but also for diagnosis of abnormal fetal facial dimensions.

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First trimester serum tests for Down's syndrome screening

Alldred

Takwoingi

Guo

et al. 2015

Cochrane Database of Systematic Reviews

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Tests involving two markers in combination with maternal age, specifically PAPP-A, free βhCG and maternal age are significantly better than those involving single markers with and without age. They detect seven out of 10 Down's affected pregnancies for a fixed 5% FPR. The addition of further markers (triple tests) has not been shown to be statistically superior; the studies included are small with limited power to detect a difference.The screening blood tests themselves have no adverse effects for the woman, over and above the risks of a routine blood test. However some women who have a 'high risk' screening test result, and are given amniocentesis or chorionic villus sampling (CVS) have a risk of miscarrying a baby unaffected by Down's. Parents will need to weigh up this risk when deciding whether or not to have an amniocentesis or CVS following a 'high risk' screening test result.

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Frontomaxillary facial angles in screening for trisomy 21 at 14-23 weeks’ gestation

Cited by 46 publications

References 16 publications

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

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

Craniofacial Inclination at 14 to 39 Weeks' Gestation in Normal Korean Fetuses

First trimester serum tests for Down's syndrome screening

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