Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort

Vibert, Florence; Schmidt, Gül; Löffler, Kerstin; Gasiorek-Wiens, Adam; Henrich, Wolfgang; Verlohren, Stefan

doi:10.1007/s00404-023-07084-8

Cited by 4 publications

(4 citation statements)

References 21 publications

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“…In the literature, the accuracy of antenatal diagnosis using 2D ultrasound varies between 70.5% [8] and 80.7% [9]. Studies that have utilized both 2D and 3D ultrasound, without direct comparisons between the two techniques, have reported accuracy rates ranging from 43% to 87% [10][11][12][13]. The accuracy of diagnostics in our center is lower, with 62.5% of prenatal diagnoses matching postnatal diagnoses.…”

Section: Discussionmentioning

confidence: 84%

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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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Section: Discussionmentioning

confidence: 84%

“…In our study, we were able to identify only one case of CP with PRS due to the detection of micrognathia. In studies that utilized both 2D and 3D ultrasound, diagnostic accuracy of cleft palate ranged from 33% [11] to 75% [13], but these results were also highly associated with the presence of other anomalies diagnosed with ultrasound.…”

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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“…Although the combined use of 2D and 3D ultrasound improves accuracy in the diagnosis of fetuses with cleft lip and palate, certain limitations must be considered [33]. These include limited resolution, difficulties due to the position of the fetus during ultrasound examination, dependence on operator experience, gestational timing limitations, and soft tissue visualization limitations.…”

Section: Discussionmentioning

confidence: 99%

“…Although 3D ultrasound is outstanding in imaging the surface of structures, it can be limited in providing detailed information about the soft tissues within the cleft, which is crucial for comprehensive diagnosis and planning [34]. Patient factors, such as maternal lifestyle, amniotic fluid levels, and the presence of other anatomical abnormalities, can also influence the effectiveness of 3D ultrasound, affecting the quality and interpretation of the images [33,35].…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Methods for the Prenatal Detection of Cleft Lip and Palate: A Systematic Review

Baeza-Pagador,

Tejero-Martínez,

Salom-Alonso

et al. 2024

JCM

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Background: Accurate prenatal diagnosis of cleft lip and palate is essential to discuss severity prediction, perform appropriate parental counseling, and, at last, establish long-term treatment planning. The aim of this systematic review was to analyze the accuracy of various imaging techniques for the prenatal diagnosis of cleft lip and palate, assess the pregnancy phase for orofacial clefts diagnosis, and study the different cleft types in terms of diagnostic methods, timing, and predictability. Methods: A search of the PubMed, EMBASE, Scopus, and Web of Science databases was conducted to identify potentially relevant studies published until January 2024. The quality of the selected articles was assessed using the Newcastle–Ottawa scale for methodological quality assessment of cohort studies and the QUADAS-2 scale for diagnostic test studies. Results: A total of 18 studies met the eligibility criteria and were included in the review. The findings of this review indicate that the majority of studies showed improved diagnostic accuracy when supplementary techniques, such as 3D ultrasound or magnetic resonance imaging, were added to 2D ultrasound. Conclusions: The implementation of magnetic resonance imaging as a standard procedure could significantly improve the precision of diagnosing cleft lip and palate. Therefore, the diagnostic technique used will play a crucial role in the accuracy of the diagnosis.

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Prenatal ultrasound diagnostics and sociopsychological support as rehabilitation measures in patients with congenital cleft palate complicated by anomalies of other organs and systems

Rogozhina,

Blokhina,

Bimbas

et al. 2024

Russian Medicine

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BACKGROUND.Issues of prenatal ultrasound diagnostics and socio-psychological support in the complex of early rehabilitation of children with clefts of the maxillofacial region, combined with malformations of other organs and systems of the body, complement the algorithm for dynamic observation and rehabilitation treatment of such patients. AIMS.To assess the informed value of prenatal ultrasound diagnostics and socio-psychological support of theof pregnancy and early rehabilitation of a patient with cleft maxillofacial region, combined with malformations of the development of other organs and systems due to a special set of measures in the structure of rehabilitation treatment. MATERIALS AND METHODS.The study was conducted on the basis of the Bonum Medical Center (Ekaterinburg). 823 (33.25%) cases of a combination of cleft of the maxillofacial region with malformations of other organs and systems were studied, identified during the analysis of medical documentation of complex care of 2475 patients with cleftfor 24 years (1998-2022). Epicrises of the course of pregnancy, childbirth, timing of ultrasound diagnostics of the fetus, anamnesis of newborns, timing of routing to the Bonum Center were analyzed. Data from a survey of parents at the initial appointment were studied. RESULTS.Ultrasound examination of the fetus revealed a combination of cleft maxilla with anomalies of other organs and systems in 292 (35.48%) of 823 cases. Major congenital malformations of the fetus were identified during the second - in 99 (33.90%) cases and the third - in 185 (63.36%) pregnancy screenings. When examining mothers during ultrasound diagnostics of the fetus, they were found to have emotional lability. A block of psychocorrective and socially significant measures is proposed from the moment of diagnosis of fetal pathology to the neonatal period. The need for parental participation at all stages of specialized care has been determined. CONCLUSIONS.The system rehabilitation of patients with a cleft of the maxillofacial area, combined with birth defects of other organs and systems, should include prenatal diagnosis of the fetus, as an integral part of a complex of multifunctional measures of restorative treatment. Social and psychological support for the family is necessary at all stages of pregnancy and treatment of the child.

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Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort

Cited by 4 publications

References 21 publications

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

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

Diagnostic Methods for the Prenatal Detection of Cleft Lip and Palate: A Systematic Review

Prenatal ultrasound diagnostics and sociopsychological support as rehabilitation measures in patients with congenital cleft palate complicated by anomalies of other organs and systems

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