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Cleft Lip and Palate Antenatal Diagnosis: A Swiss University Center Performance Analysis
Yohan Guichoud1, Oumama El Ezzi1, Anthony de Buys Roessingh1
1Service de Chirurgie de l'Enfant et de l'Adolescent, Département Femme Mère Enfant, Lausanne University Hospital, 1011 Lausanne, Switzerland.
Insights
Prenatal ultrasound diagnosis of cleft lip and/or palate has a low overall detection rate of 44.6% and accuracy of 62.5%. Accuracy varied significantly by cleft type, with palatal clefts being particularly difficult to detect.
Area of Science:
- Medical Imaging
- Obstetrics and Gynecology
- Pediatric Surgery
Background:
- Antenatal diagnosis of cleft lip and/or palate is crucial for family counseling and neonatal care.
- Routine morphologic ultrasonography is used for prenatal screening.
Purpose of the Study:
- To evaluate the accuracy and detection rate of antenatal diagnosis for cleft lip and/or palate.
- To assess diagnostic performance across different cleft classifications.
Main Methods:
- Retrospective observational study comparing 233 antenatal and postnatal diagnoses.
- Patients classified using Kernahan and Stark's system (Group 1: lip clefts, Group 2: palate clefts, Group 3: combined clefts).
Main Results:
- Overall detection rate was 44.6%, with an accuracy of 62.5%.
- Detection rates varied by group: Group 1 (58.2%), Group 2 (2%), Group 3 (91.3%).
- Antenatal diagnostic accuracy was 48.7% (Group 1), 50% (Group 2), and 71.4% (Group 3).
Conclusions:
- Prenatal ultrasound shows relatively poor diagnostic accuracy for cleft lip and/or palate.
- Detection rates and accuracy vary significantly based on cleft type, with palatal clefts having low detection rates.
Abstract:
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.
