Fetal uvula: navigating and lightening the soft palate using HDlive

Abstract

Cleft lip and palate (CLP) have an incidence of 1.82 in 1,000 live births [1], thus representing one of the most common congenital anomalies. In a series by Cash et al. [2], 67 % of the cases involved isolated cleft lip, 93 % involved CLP, and only 22 % involved isolated cleft palate. The prenatal detection of 553 cleft lips with or without cleft palate and 198 cleft palates by 2D ultrasound from 20 European registries was reported by Clementi et al. [3]. Prenatal diagnosis of CLP was made in 65/366 cases with an isolated malformation, 32/62 cases with chromosomal anomaly, 30/89 cases with multiple malformations, and 21/36 syndromic cases. Prenatal diagnosis of isolated cleft palate was made in only 13/198 cases. Prenatal ultrasound diagnosis of CLP in a low-risk population has proved to have a low detection rate that ranged from 9 to 100 % for cleft lip with or without cleft palate, 0–22 % for isolated cleft palate only, and 0–73 % for all types of cleft. 3Dultrasound in high-risk women (women whose fetuses were suspected or confirmed to have facial cleft by 2D ultrasound examination or who had a family history of facial cleft) yielded a detection rate of 100 % for cleft lip, 86–90 % for cleft lip with palate, and 0–88.9 % for cleft primary palate only [4]. In a recent series, Maarse et al. [5] studied 35,924 low-risk and 2,836 high-risk pregnant women undergoing ultrasound screening. Orofacial clefts were present in 62 cases, an incidence of 1:624. The distribution of clefts was as follows: 18 (29 %) cleft lips, 25 (40 %) cleft lips with cleft palate, 17 (27 %) cleft palates only, one median cleft and one atypical cleft. Cleft lip with or without cleft palate was detected prenatally in 38/43 cases, a sensitivity of 88 %, but no case of cleft palate only was detected prenatally. Offerdal et al. [6] evaluated prenatal detection by ultrasound on 101 fetuses with facial clefts in a large nonselected population (49,314 deliveries) and showed a significant statistical increase in detection rates (from 34 to 58 %) over the two 9-year periods. Isolated cleft palates amounted to 24 %, and none were detected prenatally. Different 3D ultrasound techniques have been developed to image the fetal palate. Campbell et al. [7] were first to develop the ‘‘reverse face’’ view using 3D ultrasound. The fetal lips and alveolar ridge were examined in the frontal plane, and the face was then rotated 180 on the vertical axis to examine the secondary palate. Eight cases of suspected orofacial clefting were examined. In one case with a left-sided cleft in the lips and the alveolar ridge, and with an intact hard palate, the correct diagnosis was made, but a cleft in the soft palate was missed. Platt et al. [8] have described the ‘‘flipped face’’ view that is based on the multiplanar approach and which requires specific technical expertise. After volume acquisition, the image is rotated 90 so that the cut plane is directed along a plane extending from chin to nose. The volume cut plane is then scrolled from chin to nose to examine sequentially the lower lip, mandible, and alveolar ridge; the tongue; the upper lip, maxilla, and alveolar ridge; and the hard and soft palates. In the ‘‘angle insonation’’ technique developed by Pilu and Segata [9], in order to avoid acoustic shadowing from G. Tonni (&) Department of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, ASL Reggio Emilia, Via Donatori di Sangue,1, 42016 Guastalla, RE, Italy e-mail: tonni.gabriele@ausl.re.it; tonnig@ausl.re.it