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Prenatal detection of orofacial clefts in Denmark from 2009 to 2018
Ultrasound in obstetrics & gynecology, 2024-04, Vol.63 (4), p.507-513
Sander, F. H.
Jørgensen, D. S.
Jakobsen, L. P.
Jensen, A. N.
Lousen, T.
Sandager, P.
Sperling, L.
Vogel, I.
Petersen, O. B.
Vedel, C.
Andreasen, Rie
Fabricius, Mette Hvilshøj
Farlie, Richard
Ibsen, Mette Holm
Juul, Susanne
Mogensen, Helle
Nørgaard, Pernille
Roslev, Anne Cathrine
Rugaard, Marie Bender
Schroeter, Wiebke
Zingenberg, Helle
Vang Østergård, Marianne Louise
2024
Details
Autor(en) / Beteiligte
Sander, F. H.
Jørgensen, D. S.
Jakobsen, L. P.
Jensen, A. N.
Lousen, T.
Sandager, P.
Sperling, L.
Vogel, I.
Petersen, O. B.
Vedel, C.
Andreasen, Rie
Fabricius, Mette Hvilshøj
Farlie, Richard
Ibsen, Mette Holm
Juul, Susanne
Mogensen, Helle
Nørgaard, Pernille
Roslev, Anne Cathrine
Rugaard, Marie Bender
Schroeter, Wiebke
Zingenberg, Helle
Vang Østergård, Marianne Louise
Titel
Prenatal detection of orofacial clefts in Denmark from 2009 to 2018
Ist Teil von
Ultrasound in obstetrics & gynecology, 2024-04, Vol.63 (4), p.507-513
Ort / Verlag
Chichester, UK: John Wiley & Sons, Ltd
Erscheinungsjahr
2024
Link zum Volltext
Quelle
Wiley HSS Collection
Beschreibungen/Notizen
ABSTRACT Objective To investigate the overall and type‐specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. Methods This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases‐10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded. Results A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for 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 56.4% (95% CI, 45.0–67.6%) for unilateral CL; 76.6% (95% CI, 71.7–82.9%) for unilateral CLP; 70.5% (95% CI, 52.1–87.6%) for bilateral CL; 82.3% (95% CI, 70.6–93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6–5.7%) for CP. A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations. Conclusions The DR for CL(P) has improved in Denmark over the last decade. The DR for CLP is high, with the highest DR for bilateral CLP. However, prenatal detection of CP remains a challenge. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Sprache
Englisch
Identifikatoren
ISSN: 0960-7692
eISSN: 1469-0705
DOI: 10.1002/uog.27488
Titel-ID: cdi_proquest_miscellaneous_2866760258
Format
–
Schlagworte
Autopsies
,
Autopsy
,
Birth defects
,
Child
,
cleft lip
,
Cleft Lip - diagnostic imaging
,
Cleft Lip - epidemiology
,
Cleft lip/palate
,
cleft palate
,
Cleft Palate - diagnostic imaging
,
Cleft Palate - epidemiology
,
Denmark - epidemiology
,
Diagnosis
,
Discordance
,
Female
,
Fetuses
,
Gynecology
,
Humans
,
Obstetrics
,
orofacial cleft
,
Orofacial clefts
,
Pregnancy
,
prenatal detection
,
Prenatal Diagnosis
,
Stillbirth
,
Ultrasonic imaging
,
Ultrasound
,
ultrasound screening
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