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Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: a
A M Rozendaal1, A J M Luijsterburg, E M Ongkosuwito
1Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA, Rotterdam, The Netherlands. am.rozendaal@gmail.com
Insights
Congenital anomalies associated with clefts are frequently underreported in the national registry due to underdiagnosis and poor recording. Improved examination and follow-up are crucial for accurate data on cleft palate patients.
Area of Science:
- Medical data quality assessment
- Cleft palate research
- Congenital anomaly registration
Background:
- The Dutch national oral cleft registry (NVSCA) collects data on oral clefts and associated congenital anomalies since 1997.
- Data is typically recorded during a patient's first visit by a multidisciplinary team.
Purpose of the Study:
- To evaluate the accuracy and completeness of data regarding congenital anomalies associated with oral clefts in the NVSCA.
- To identify reasons for underreporting of these anomalies.
Main Methods:
- A random sample of 250 cases from the NVSCA (1997-2003) was analyzed.
- Two independent reviewers assessed the agreement between NVSCA data and medical records for associated anomalies.
Main Results:
- Agreement between NVSCA and medical data ranged from moderate to poor (kappa 0.59-0).
- Seventy-seven percent of craniofacial anomalies and 80% of anomalies in other organ systems were underreported.
- Underreporting was attributed to both delayed diagnosis (30-52%) and deficient recording (47-28%).
Conclusions:
- Congenital anomalies associated with clefts are significantly underreported in the NVSCA.
- Underdiagnosis and deficient recording during initial consultations contribute to data gaps.
- Recommendations include thorough examinations, focus on co-occurring anomalies, genetic counseling, and improved postnatal follow-up and registration.
Objective:
Since 1997, the 15 Dutch cleft palate teams have reported their patients with oral clefts to the national oral cleft registry (NVSCA). During the first visit of the patient to the team - which is usually within the first year of life - the oral cleft and associated congenital anomalies are recorded through a unique recording form by a plastic surgeon/orthodontist/paediatrician. In this study, we evaluated the quality of data on congenital anomalies associated with clefts.
Methods:
We drew a random sample of 250 cases registered in the national database with oral clefts from 1997 through 2003; of these, 13 were excluded. Using two independent reregisters derived from two-phased medical data review, we analysed whether associated anomalies were correctly diagnosed and recorded.
Results:
The agreement on associated anomalies between the NVSCA and medical data ranged from moderate to poor (kappa 0.59 to 0). Seventy-seven percent of the craniofacial anomalies were underreported in the NVSCA: 30% due to delayed diagnosis and 47% due to deficient recording. Additionally, 80% of the associated anomalies of other organ systems were underreported: 52% due to delayed diagnosis and 28% due to deficient recording. The reporting of final diagnoses was somewhat better; however, 54% were still underreported (24% delayed diagnosis and 30% deficient recording). The rate of overreporting was 1.6% or lower.
Conclusion:
Congenital anomalies associated with clefts are underreported in the NVSCA because they are under diagnosed and deficiently recorded during the first consultations with the cleft palate teams. Our results emphasise the need for routine and thorough examination of patients with clefts. Team members should be more focussed on co-occurring anomalies, and early genetic counselling seems warranted in most cases. Additionally, our findings underline the need for postnatal follow-up and ongoing registration of associated anomalies; reregistration in the NVSCA at a later age is recommended.
