Understanding the distinction between cleft lip and cleft palate: a critical step for successful prenatal detection

Minor, Kathleen; Chueh, Jane

doi:10.1097/gco.0000000000000852

Cited by 4 publications

(4 citation statements)

References 68 publications

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“…However, prenatal detection of cleft palate without cleft lip (CP) remains low. 12 The most concerning findings in PRS patients are micrognathia and the retropositioned tongue, as the combination of these two can obstruct the airway, causing respiratory distress and oral feeding difficulties. Prenatal suspicion of PRS is essential for preparing the delivery team for a possible airway emergency.…”

Section: Discussionmentioning

confidence: 99%

“…Fetal ultrasonography is an important tool for prenatally diagnosing craniofacial conditions. However, prenatal detection of cleft palate without cleft lip (CP) remains low 12 . The most concerning findings in PRS patients are micrognathia and the retropositioned tongue, as the combination of these two can obstruct the airway, causing respiratory distress and oral feeding difficulties.…”

Section: Discussionmentioning

confidence: 99%

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Prenatal Diagnosis of Fetal Micrognathia at 11–20 Weeks of Gestation

Wu,

Han,

Duan

et al. 2024

J of Ultrasound Medicine

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ObjectiveTo prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening.MethodsBetween January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes.ResultsUltrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non‐isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow‐up.ConclusionIFA is a useful indicator and three‐dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Fetal Micrognathia at 11–20 Weeks of Gestation

Wu,

Han,

Duan

et al. 2024

J of Ultrasound Medicine

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“…Furthermore, specific US markers, such as the description of the two pterygoid processes [24] or the evaluation of the retronasal triangle [25][26][27], have been described in order to enhance the detection rate and the accuracy of cleft palate. Kathleen and Chueh have recently reviewed multiple first, second and third trimester 2D ultrasonographic markers for CL ± P or CP, including the maxillary gap, frontal space, maxilla-nasion-mandible angle, retronasal triangle, palatino-maxillary diameter and equal sign [28]. As an interesting new tool, the assessment of the alveolar cleft size (≥4 mm) on 2D US has recently been investigated as a predictive factor for secondary cleft palate [29].…”

Section: Discussionmentioning

confidence: 99%

Cleft Lip and Palate Antenatal Diagnosis: A Swiss University Center Performance Analysis

Guichoud,

El Ezzi,

de Buys Roessingh

2023

Diagnostics

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Precision of cleft lip and/or palate antenatal diagnosis plays a significant role in counselling, neonatal care, surgical strategies and psychological support of the family. This study aims to measure the accuracy of antenatal diagnosis in our institution and the detection rate of cleft lip and/or palate on routine morphologic ultrasonography. In this retrospective observational study, we compared antenatal and postnatal diagnosis of 233 patients followed in our unit. We classified our patients according to the Kernahan and Stark’s classification system: Group 1: facial cleft including labial and labio-maxillary clefts; Group 2: facial cleft including total, subtotal and submucous palatal clefts; Group 3: labio-maxillary-palatal clefts. Out of 233 patients, 104 were antenatally diagnosed with a facial cleft, i.e., an overall detection rate of 44.6%. The diagnosis was confirmed at birth in 65 of these patients, i.e., an overall accuracy of 62.5%. Of the 67 children (29.2%) in Group 1, the screening detection rate was 58.2% with an antenatal diagnostic accuracy of 48.7%. Of the 97 children (41.6%) in Group 2, the screening detection rate was 2% with an antenatal diagnostic accuracy of 50%. Of the 69 children (29.6%) in Group 3, the screening detection rate was 91.3% with an antenatal diagnostic accuracy of 71.4%. Our study demonstrates a relatively poor diagnostic accuracy in prenatal ultrasound, where the diagnosis was inaccurate in one third to one half of patients. It showed great variability in the screening detection rate depending on the diagnostic group observed, as well as a low rate of detection of palatal clefts.

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“…It is not mandatory to assess the palate of the fetuses in the uterus, and therefore the detection rate of cleft palate is very low. Approximately 0%-22% of cleft palate is identified antenatally in the gestation period (10). With the progression of prenatal diagnosis, the detection of cleft palate has gradually attracted the attention of prenatal sonographers.…”

Section: Introductionmentioning

confidence: 99%

Cleft palate in fetuses: feasibility of early diagnosis by Crystal and Realistic Vue rendering 3D ultrasound technology in the first trimester

et al. 2023

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ObjectivesThis study aimed to evaluate the feasibility of direct visualization of a normal fetal palate and detect cleft palate in the first trimester with a novel three-dimensional ultrasound (3D US) technique, Crystal and Realistic Vue (CRV) rendering technology.MethodsTwo-dimensional (2D) images and 3D volumes of healthy and cleft palate fetuses at 11–13+6 weeks were obtained prospectively. 2D ultrasound views included the coronal view of the retronasal triangle and the midsagittal view of the face. 3D-CRV views were analyzed by multiplanar mode display. The pregnancy outcomes of all fetuses were determined during the follow-up period.ResultsIn our study, 124 fetuses were recruited, including 100 healthy fetuses and 24 cleft palate fetuses. The cleft palate with lip was observed in 23 fetuses (bilateral in 15, unilateral in 6, median in 2), and one cleft palate was only found in the abnormal group. The bilateral (n = 12) and median (n = 2) cleft palates with lips and the cleft palate alone (n = 1) were associated with other anatomical or chromosomal abnormalities, and one unilateral cleft palate with cleft lip had concomitant NT thickening. In the cleft palate fetus group, 16 fetuses suffered intrauterine death, which was associated with other structural or chromosomal abnormalities in 14 fetuses, seven cases were terminated after consultation, and one was delivered at term. The coronal view of the retronasal triangle and the midsagittal view was easily obtained in all fetuses. 3D-CRV images of palatal parts were clearly obtained in all cases. Unilateral, bilateral, and median cleft palates with cleft lips were visually demonstrated and classified by the 3D-CRV technique.ConclusionIt is feasible to identify the palate by 3D-CRV in the first trimester in both healthy and cleft palate fetuses. Together with 2D ultrasonography as a complementary diagnostic tool, 3D-CRV is helpful in classifying the cleft palate with a reasonable degree of certainty.

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Understanding the distinction between cleft lip and cleft palate: a critical step for successful prenatal detection

Cited by 4 publications

References 68 publications

Prenatal Diagnosis of Fetal Micrognathia at 11–20 Weeks of Gestation

Prenatal Diagnosis of Fetal Micrognathia at 11–20 Weeks of Gestation

Cleft Lip and Palate Antenatal Diagnosis: A Swiss University Center Performance Analysis

Cleft palate in fetuses: feasibility of early diagnosis by Crystal and Realistic Vue rendering 3D ultrasound technology in the first trimester

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