ABSTRACT
Objective:To explore the feasibility of ultrasound screening and diagnosis of fetal cleft palate in early pregnancy, analyze and summarize the imaging technology and image characteristics of two-dimensional and three-dimensional ultrasound in normal fetus and cleft palate fetus.Methods:A total of 10 519 pregnant women participated in the early pregnancy were included from January 2016 to June 2020 in Shenzhen Hospital, University of Chinese Academy of Sciences. The palatal line on the standard section of fetal nuchal translucency (NT) measurement was used as a screening marker for routine observation. For fetuses with abnormal palatine line, posterior nasal triangle of coronal plane and axial plane of maxillary alveolar arch of two-dimensional ultrasound were added as the diagnostic sections, and three-dimensional volume data of fetal face were collected, and three dimensional multimodal imaging technology was used to analyze the volume data off-line to determine or exclude fetal severe cleft palate. All fetuses were followed up during the second trimester for deformity scanning and post natal (or induced labor) assessment.Results:Of the 10 519 fetuses, the standard NT plane was obtained and the palatal line was observed in 10 204 cases(97.01%), with normal palatal line in 10 169 cases.In 35 suspected cases, 13 cases were confirmed cleft lip and palate by two and three dimensions ultrasound, and were confirmed by induced labor. There were 7 cases in unilateral side, 3 cases in bilateral, 2 cases in median cleft lip and palate, 1 cases in irregular cleft lip and palate, and no false positive results were reported. Twenty-two suspicious cases were excluded by increasing the two-dimensional sectional and three-dimensional volumetric off-line analysis, and screening after the second trimester and after birth. There was 1 case of missed diagnosis of simple cleft palate.Conclusions:Palatal line is a good screening marker for fetal cleft palate in early pregnancy. For fetuses with abnormal palatine line, the adding of posterior nasal triangle and the axial plane of maxillary alveolar arch, and combining three-dimensional volume data for off-line analysis can determine or exclude severe cleft palate. This study is of great significance for early screening and diagnosis of severe fetal cleft palate, prenatal genetic counseling and prevention birth defect.
ABSTRACT
Objective To summarize the characteristics and associated malformation of fetal isolate cleft palate in prenatal ultrasonography, and analyze the reason of ultrasound misdiagnosis and missed diagnosis in isolate fetal cleft palate prenatally. Methods Systemic screening was performed with two-and three-dimensional ultrasonography in 3 576 cases. The fetal lip and plane were observed especially in nasolabial coronary plane, axial plane through maxilla, median sagittal plane, oblique coronal plane through oral cleft. Meanwhile the accompanied deformity were also screened. And prenatal ultrasound results were compared with postpartum ifndings. Results Eleven in 3 598 cases (0.31%, 11/3 598) were diagnosed as fetal isolate cleft palate by prenatal ultrasonography. The ultrasonic characteristics of isolate cleft palate were:(1) One case ofⅠ° cleft palate, the ultrasonic manifestations:in median sagittal plane, the hyperecho line of median palatine suture was disappeared, and the mucous membranes above and below it were complete;in oblique coronal plane of soft palate through oral cleft, the soft palate was complete and continuous;uvula couldn′t be displayed. (2) Three cases ofⅡ° cleft palate, the ultrasonic manifestations:in median sagittal plane though jaw, the hyperecho line of median palatine suture was shorter;the latter half and the midline of soft palate was disappeared;in both paramedian sagittal plane, the arc-shaped hyperecho line of median palatine suture were displayed;and longer than the hyperecho of midline of palate;in oblique coronal plane of hard palate through oral cleft, the ifrst half hyperecho line of hard palate was continuous, the middle of the latter half hyperecho line was interrupted;in oblique coronal plane of soft palate through oral cleft, the midline of soft palate was interrupted. 3D volume data analysis showed that the ifrst half hard palate was complete, the midline of the latter half hard palate and soft palate was interrupted. (3) Seven cases ofⅢ° cleft palate, the ultrasonic manifestations:in median sagittal plane, the hyperecho line of median palatine suture was disappeared;in oblique coronal plane of hard palate through oral cleft, the middle part echoes of the hard palate was interrupted;in oblique coronal plane of soft palate through oral cleft, the midline of soft palate was interrupted;oral and nasal cavity were communicated;the hyperecho of the vomer at the lower edge of the nasal septum could be displayed though oral cavity. 3D volume data analysis showed that hard palate and soft palate were interrupted. The hyperecho of the vomer at the lower edge of the nasal septum could be displayed clearly though oral cavity. Prenatal ultrasonic diagnosis was conifrmed by postpartum ifndings. And 2 cases were misdiagnosed (0.06%, 2/3 598), 1 case was missed diagnosed (8.33%, 1/12). The incidence of isolate fetal cleft palate was 0.33%(12/3 598). In 12 cases of isolate fetal cleft palate, 11 cases were accompanied with other fetal deformities, including central nervous system malformations (6/12), small jaw (6/12), urinary tract malformation (5/12), hydramnios (2/12), and absence of amniotic lfuid (1/12). Conclusions Fetal secondary palate should be routinely included in the prenatal screening. When secondary palate planes weresuccessfully demonstrated, the isolate cleft palate could be detected. Prenatal diagnosis of the isolate cleft palate is contributive to prenatal counseling and risk assessment.