Knowlegde gaps

In order to acquire an evidence base for this guideline, systematic literature searches were carried out which gave a comprehensive picture of the evidence base for various treatment options. In summary, it can be contended that the evidence concerning treatment options is limited. In many cases recommendations were supported on the basis of a very low level of evidence, augmented by the expertise of the working group and patient preferences. The most important knowledge gaps that were identified are listed below.

 

Module Genetic testing

As already mentioned, the actual benefit and cost-effectiveness of genetic testing cannot be determined until the yield of genetic testing has been determined in an unbiased population, and follow-up studies have been performed to analyse the effect of a specific diagnosis, taking into account the quality of life of people with CLA/P and their parents.

 

What is the effect of different genetic tests in isolated clefts of the lip, alveolus and/or palate on the diagnostic yield in isolated clefts of the lip and/or palate?

 

P: patients with isolated cleft lip, alveolus and/or palate or pregnant women undergoing prenatal screening for cleft lip, alveolus and/or palate in their child;

I: diagnostic genetic tests (copy number variant (CNV) analysis (e.g. array comparative genomic hybridization (CGH), SNP array, CMA), next generation sequencing, e.g. gene panels, whole exome sequencing);

C: comparison of the tests above;

R: long term follow-up of children with apparently isolated cleft to identify late onset features and underlying genetic/ syndrome diagnose;

O: yield, sensitivity, specificity, diagnostic accurateness.

 

Future prospective studies are recommended to resolve these issues.

 

Module Prenatal medical counselling

What are the needs and expectations of prenatal medical counselling of parents expecting a child with a cleft lip, alveolus and/or palate?

 

Module Timing repairing cleft lip, alveolus and/or palate

What is the effect of the timing of repairing cleft lip, alveolus and/or palate on maxillary and midface growth, speech, hearing, feeding capability, postoperative complications (fistulae), and esthetics (patient, parent and/or doctor satisfaction)?

 

P: patients with cleft lip, alveolus and/or palate;

I: closing hard palate before 18 months / closing lips before 3 months;

C: closing hard palate after 18 months / closing lips after 3 months;

O: maxillary and midface growth, speech, hearing, feeding capability, postoperative complications (fistulae), and esthetics (patient, parent and/or doctor satisfaction).

 

Module Technique repairing cleft lip, alveolus and/or palate

What is the effect of different techniques of repairing cleft lip, alveolus and/or palate on speech, hearing, diet, maxillary growth, postoperative complications, esthetics (patient, parent and doctor satisfaction)?

 

P: patients with cleft lip, alveolus and/or palate;

I: surgical techniques for repairing cleft lip, alveolus and/or palate;

C: other surgical technique for repairing cleft lip, alveolus and/or palate;

O: speech, hearing, feeding capability, maxillary and midface growth, postoperative complications, esthetics (patient, parent and/or doctor satisfaction).

 

Module Postoperative (nutritional) care

Is breastfeeding or bottle feeding preferred with patients aged 3 to 9 months cleft palate repair, pharyngoplasty and bone grafting procedure?

 

P: patients after cleft palate repair, pharyngoplasty and bone grafting procedure, between 3 and 9 months of age;

I: breastfeeding;

C: bottle feeding (included use of a pacifier), Spoon feeding;

O: no disturbed wound healing, enough food intake, no fistulas.