Fetal Otopsilerde Yarık Damak-Yarık Dudak Ve Eşlik Eden Anomaliler

Year 2026, Volume: 16 Issue: 1, 87 - 93, 15.03.2026

Esra Çobankent Aytekin , Havva Serap Toru

https://doi.org/10.16919/bozoktip.1826348

https://izlik.org/JA27LK24AP

Abstract

Özet
Giriş: Yarık dudak / damak (YD/D), yarık dudak ve yarık damak dahil olmak üzere yüz yarıkları coğrafi ve etnik faktörlere bağlı olarak 10000 doğumda 9.1 oranında görülen en yaygın konjenital kraniyofasiyal anomalidir. Erkeklerde daha sık görülür. Etiyolojisi, genetik yatkınlık ve çevresel faktörlerin birlikte rol aldığı multifaktöriyel bir yapıya sahiptir. YD/D, prognozu ve yönetimi önemli ölçüde etkileyebilen çeşitli konjenital anomalilerle birlikte bulunabilir. En sık ilişkili anomaliler arasında konjenital kalp defektleri ve iskelet anomalileri bulunur. Bu çalışmanın amacı, fetüs otopsilerinde YD/D yaygınlığını ve eşlik eden diğer anomalileri değerlendirmektir.
Gereç ve Yöntemler: Ocak 2010 ile Ocak 2020 arasında YD/D olan 26 fetüs üzerinde yapılan retrospektif bir çalışma değerlendirildi. Bu yıllar arasında 808 fetal otopsi raporu ve dosyası analiz edildi.
Bulgular: Çalışmamızda 808 fetal otopsi vakasının 26’sında (%3.2) YD/D tespit edilmiştir. Olguların %69,2’si (n=18) erkek, %30,8’i (n=8) kız olup, erkek cinsiyet baskınlığı saptandı. Olguların %26.9 ‘u sadece yarık dudak, %7.7’si sadece yarık damak ve %65.4’ü YD/D içeriyordu. YD/D vakalarının %53,8’inde YD/D dışında anomali ve/veya malformasyon görülmüştür. En sık eşlik eden bulgu dismorfizm bulgusu olurken (% 65,4); %42.3 oranı ile en sık gözlenen ilişkili sistem anomalisi kas iskelet sistem anomalileri oldu. Fenotipik özelliklerine göre aralarında Trizomiler, Fryns sendromu ve Edwards sendromu yeralan 10 sendromik olgu ve 4 amniyotik bant sekansı tespit edildi.
Sonuç: Fetal otopsi serileri, YD/D'ye eşlik eden anomalilerin spektrumu hakkında değerli bilgiler sağlar. Fetal otopsi hem prenatal tanıyı kesinleştirici hem de genetik hastalıklar açısından ön tanı koydurucu veriler sunar. Böylece annenin gelecekteki gebelik yönetimini ve ebeveynlerin danışmanlığını geliştirebilecek değerli bilgiler elde edilir.

Keywords

Yarık dudak , yarık damak , fetus , otopsi , anomali

Ethical Statement

Bu çalışma için Akdeniz Üniversitesi Tıbbi Bilimsel Araştırmalar Etik Kurulu tarafından 30.10.2025 ve TBAEK-1013 ile etik onay alınmıştır. Çalışma, kurum arşiv verilerinin retrospektif incelenmesi niteliğinde olup Helsinki Bildirgesi’ne uygun olarak yürütülmüştür.

Supporting Institution

Bu çalışmaya yönelik herhangi bir kurumsal veya mali destek bulunmamaktadır.

Cleft Lip and Palate in Fetal Autopsies: Spectrum of Associated Anomalies

https://izlik.org/JA27LK24AP

Abstract

Aim: Cleft lip/palate (CL/P), including cleft lip and cleft palate, is the most common congenital craniofacial anomaly, occurring at a rate of 9.1 per 10,000 births, depending on geographic and ethnic factors. Its incidence in males is nearly twice that in females. Its etiology is multifactorial, involving genetic predisposition and environmental influences. CL/P may be associated with a wide variety of congenital anomalies that can significantly affect its prognosis and management. The most common associated anomalies include congenital heart defects and skeletal anomalies, The aim of this study is to evaluate the prevalence of cleft lip and palate and other associated anomalies in fetal autopsies.
Materials and Methods: A retrospective study conducted on 26 fetuses with CL/P between January 2010 and January 2020 was evaluated. During these years, 808 fetal autopsy reports and files were analyzed.
Results: In our study, CL/P was detected in 26 (3.2%) of the 808 fetal autopsy cases. 69.2% of cases (n=18) were male and 30.8% (n=8) were female, indicating a male predominance. Of the cases, 26.9% (n=7) had cleft lip only, 7.7% (n=2) had cleft palate only, and 65.4% (n=17) had both cleft lip and cleft palate. In 53.8% of the CL/P cases, additional anomalies and/or malformations other than CL/P were present. Associated anomalies were most frequently detected in fetuses with both cleft lip and cleft palate (64.3%). The most common associated finding was dysmorphism (65.4%), while the most frequently observed associated system anomaly was musculoskeletal system anomalies (42.3%) anomalies were present. Based on phenotypic characteristics, 10 syndromic cases, including Trisomies, Fryns Syndrome, and Edwards Syndrome, and 4 amniotic band sequences were identified.
Conclusion: Fetal autopsy series provide valuable information about the spectrum of anomalies associated with CL/P. Fetal autopsy provides data that both confirms prenatal diagnosis and provides preliminary diagnostic data for genetic diseases. This provides valuable information that can improve the mother's future pregnancy management and parental counseling.

Keywords

Cleft lip , cleft palate , fetus , ; autopsy , anomaly

Ethical Statement

This study was approved by the Akdeniz University Medical Scientific Research Ethics Committee on October 30, 2025, with the approval number TBAEK-1013. The study involved a retrospective review of institutional archive data and was conducted in accordance with the Declaration of Helsinki.

Supporting Institution

This study received no financial support or backing from any organization or funding agency.

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