Prenatal detection of orofacial clefts in Denmark from 2009 to 2018

Abstract

ABSTRACTObjectivesTo investigate the overall and type‐specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark.MethodsThis study was based on data from the Danish Fetal Medicine Database (DFMD) and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft pre‐ and/or postnatally between 2009 and 2018. The types of clefts included uni‐, bilateral or median cleft lip (CL); uni‐, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with and without cleft palate (CL(P)) or as all clefts. All cases with discordance between pre‐ and postnatal diagnoses were validated in the local patient files (Astraia). Cases with no prenatal validation of the postnatal diagnosis were marked as undetected. Cases with a strong prenatal presumption of a cleft were registered as prenatally detected. Terminations and intrauterine deaths were registered as true positives despite no autopsy had been performed. Live‐born cases with a prenatal diagnosis, but without a postnatal validation, were excluded.ResultsA total of 994 cases were included in the study. The prevalence of orofacial clefts was 1.7/1,000 births. There were no differences in baseline characteristics between the detected and undetected cases. The DR of CL(P) was 71.7% (95% CI 64.8;78.9) with an increase from 60.0% in 2009 to 73.0% in 2018 (p=0.018). The type‐specific DRs for the entire period were: unilateral CL 56.4% (95% CI 45.0;67.6); unilateral CLP 76.6% (95% CI 71.7;82.9); bilateral CL 70.5% (95% CI 52.1;87.6); bilateral CLP 82.3% (95% CI 70.6;93.6); median CL 0.0% (0/6); median CLP 75.0% (3/4); and CP 3.3% (95% CI 0.6;5.7). A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations.ConclusionThe DR of CL(P) has improved in Denmark in the last decade. The DR of CLP is high, with the highest DR in bilateral CLP. However, the prenatal detection of cleft palate remains a challenge.This article is protected by copyright. All rights reserved.