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DOI 10.1097/scs.0000000000011312

Медицинская библиотека · The Journal of craniofacial surgery · 2025

Organization of Prenatal Care in Orofacial Clefts and Suspected Robin Sequence: A European Survey.

van de Velde Shirley, van Velzen Christine L, Scheffer Peter G, Mink van der Molen Aebele B, ERN CRANIO Working Group on Clefts

СтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

Advances in prenatal imaging and genetic testing have improved the detection of orofacial anomalies, allowing for early diagnosis and comprehensive counseling. This study aims to provide an overview of current prenatal care practices for orofacial clefts and/or suspected Robin sequence (RS) across European countries and to identify disparities to inform future improvements. A cross-sectional survey was distributed to health care professionals affiliated with the European Reference Network CRANIO, collecting data on prenatal imaging, genetic testing, counseling, and termination of pregnancy. Responses were obtained from 31 health care professionals in 27 hospitals across 17 European countries. All participating countries have some sort of prenatal screening program. Ultrasound examination was performed at 1 or 2 timepoints during pregnancy, with varying techniques used to assess orofacial structures. Fetal MRI was performed in 59% of centers, primarily for multiple (severe) anomalies. Centers utilizing specific imaging techniques reported fewer missed diagnoses. Prenatal genetic testing was available in 96% of centers, with array-based copy number variation and whole-exome sequencing performed in 59% and 52% of centers, respectively. Nearly half of the centers provided multidisciplinary counseling, with team composition and session frequency varying widely. Pregnancy termination for orofacial clefts or micro-/retrognathia was not legal in 7 countries. Termination rates and trends differed across centers. In conclusion, variability exists in prenatal care for orofacial clefts and/or suspected RS across Europe, particularly in imaging techniques, genetic testing, and pregnancy termination practices. These findings highlight the need for standardized guidelines and equitable access to multidisciplinary care to optimize outcomes for affected pregnancies.

Для цитирования: van de Velde Shirley, van Velzen Christine L, Scheffer Peter G, Mink van der Molen Aebele B, ERN CRANIO Working Group on Clefts. Organization of Prenatal Care in Orofacial Clefts and Suspected Robin Sequence: A European Survey.. The Journal of craniofacial surgery. 2025. DOI: 10.1097/scs.0000000000011312.

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