Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies

Gabrielli, S.; Piva, M.; Ghi, T.; Perolo, A.; Santis, M. S. Nobile De; Bevini, Mirko; Bonasoni, Maria Paola; Santini, Donatella; Rizzo, Nicola; Pilu, Gianluigi

doi:10.1002/uog.6451

Cited by 26 publications

(28 citation statements)

References 9 publications

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“…However, although the upper lip and alveolar ridge can be confidently evaluated using two‐dimensional (2D) ultrasound starting from the second trimester, only recently has the advent of three‐dimensional (3D) ultrasound allowed assessment of the secondary palate and hence the confident diagnosis of cleft palate in the second and third trimesters of pregnancy6–12. In contrast, as the diagnosis of this condition in the first trimester is still incidental, only a few cases have been reported thus far13–17.…”

Section: Introductionmentioning

confidence: 99%

First‐trimester diagnosis of cleft lip and palate using three‐dimensional ultrasound

Martínez-Ten¹,

Adiego²,

Illescas³

et al. 2012

Ultrasound in Obstet & Gyne

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Section: Introductionmentioning

confidence: 99%

First‐trimester diagnosis of cleft lip and palate using three‐dimensional ultrasound

Martínez-Ten¹,

Adiego²,

Illescas³

et al. 2012

Ultrasound in Obstet & Gyne

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“…Subsequently, similar cases involving bilateral CLP were reported by Gullino et al [16] using transvaginal sonography at 11.5 weeks and by Ghi et al [17] using 3D surface-rendering ultrasound at 13 weeks; both fetuses presented with premaxillary protrusion and were chromosomally normal. Nevertheless, the significance of detecting CLP in fetuses with a flattened profile has been recently emphasized by Gabrielli et al [8] , who have shown that their 2 first-trimester fetuses with bilateral CLP and no premaxillary protrusion had a lethal chromosomal abnormality.…”

Section: Discussionmentioning

confidence: 99%

“…Indeed, recent evidence has suggested that a systematic offline 3D evaluation of the fetal palate in first-trimester fetuses is possible, allowing an accurate diagnosis of CLP in early gestation [6] . The early examination of the fetal upper lip and palate is becoming even more relevant after recent studies have demonstrated that chromosomally normal fetuses with increased nuchal translucency (NT) have a high rate of orofacial clefts [7] and the strong association between bilateral CLP without premaxillary protrusion with lethal aneuploidies [8] .…”

Section: Introductionmentioning

confidence: 99%

Early Prenatal Diagnosis of Orofacial Clefts: Evaluation of the Retronasal Triangle Using a New Three-Dimensional Reslicing Technique

Tonni

Grisolia

Sepúlveda³

2013

Fetal Diagn Ther

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Background: The role of three-dimensional ultrasound in the prenatal diagnosis of orofacial clefts is increasing in recent time. Materials and Methods: We obtained three-dimensional data sets of the fetal face from 100 low-risk and 50 high-risk first-trimester fetuses to evaluate the offline reformatting accuracy of the retronasal triangle (RNT) using a novel reslicing technique. Results: Adequate volume data sets for offline analysis were captured in 98% of cases. The RNT view was reformatted in 96% of cases by offline analysis. The secondary palate could be assessed in 93% by offline analysis and an abnormal RNT in the coronal plane was detected in 2 cases of lethal aneuploidy. The false-positive rate was 1.33% in the two studied groups. Conclusion: Abnormal RNT seems to be a valuable ultrasound marker for the early diagnosis of facial clefting. This novel reslicing technique has proven to be easy, fast and accurate, which suggest that this technology could be included in daily practice and integrated with other applications such as multiplanar mode and volume NT. Prospective studies are needed to confirm these promising results and to demonstrate if these diagnostic armamentarium tools will lead to a diagnostic enhancement of cleft lip and palate in early pregnancy.

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“…Differentiation between these two entities is important as in the latter cases they are almost invariably associated with lethal aneuploidies. 42 Detailed examination of the fetal face is also important in first-trimester fetuses with increased NT, as the prevalence DSJUOG Prenatal Detection of Fetal Anomalies at the 11-to 13-Week Scan-Part I: Brain, Face and Neck of cleft lip and palate in these cases is significantly increased in comparison to fetuses with normal NT thickness. 43 A more systematic approach for the early diagnosis of cleft lip and palate using two-and three-dimensional ultrasound has been reported by our group.…”

Section: Cleft Lip and Palatementioning

confidence: 99%

Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck

Illescas¹,

Sepúlveda²,

Adiego³

et al. 2013

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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In the last 20 years, the role of first-trimester ultrasound screening has expanded from individual calculation of the risk of aneuploidy through measurement of the nuchal translucency to a powerful technique to evaluate important aspects of the fetal anatomy. Traditionally, the full anatomy scan for detection of structural anomalies has been performed in the second trimester of pregnancy. However, with the implementation of the first-trimester scan at 11 to 13 weeks of gestation many of the structural anomalies traditionally detected in the second trimester can now be identified earlier in pregnancy. In the first part of this review we discuss the main ultrasound findings that may facilitate the prenatal detection of fetal brain, face and neck abnormalities in the first trimester of pregnancy.

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Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies

Abstract: Objective

Cited by 26 publications

References 9 publications

First‐trimester diagnosis of cleft lip and palate using three‐dimensional ultrasound

First‐trimester diagnosis of cleft lip and palate using three‐dimensional ultrasound

Early Prenatal Diagnosis of Orofacial Clefts: Evaluation of the Retronasal Triangle Using a New Three-Dimensional Reslicing Technique

Prenatal Detection of Fetal Anomalies at the 11- to 13-Week Scan—Part I: Brain, Face and Neck

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