Fetal Otopsilerde Yarık Damak-Yarık Dudak Ve Eşlik Eden Anomaliler

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

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

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

References

1. 1. Allori AC, Mulliken JB, Meara JG, Shusterman S, Marcus JR. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate Craniofac J. 2017;54(2):175–88.
2. 2. Calzolari E, Pierini A, Astolfi G, Bianchi F, Neville AJ, Rivieri F, et al. Associated anomalies in multi‐malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries. Am J Med Genet A. 2007;143A(6):528–37.
3. 3. Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 2011;12(3):167–78.
4. 4. Chen X, Lin L, Zhong Q, Wu H, Zheng Z, Zhang B, et al. Factors related to the occurrence of fetal birth defects and the construction of a Nomogram model. Pediatric Health Med Ther. 2024;Volume 15:289–98.
5. 5. Paaske EB, Garne E. Epidemiology of orofacial clefts in a Danish county over 35 years – Before and after implementation of a prenatal screening programme for congenital anomalies. Eur J Med Genet. 2018;61(9):489–92.
6. 6. Farladansky-Gershnabel S, Gluska H, Halevi N, Kotser N, Sharon-Weiner M, Schreiber H, et al. Cleft Lip and/or Cleft Palate: Prenatal Accuracy, Postnatal Course, and Long-Term Outcomes. Children (Basel) 2022;9(12):1880.
7. 7. Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses - Bergé - 2001 - Ultrasound Obstet Gynecol. 2001;18(5):422-31.
8. 8. Sekhon PS, Ethunandan M, Markus AF, Krishnan G, Rao CB. Congenital Anomalies Associated with Cleft Lip and Palate—An Analysis of 1623 Consecutive Patients. Cleft Palate Craniofac J. 2011;48(4):371–78.

9. 9. Zhou X, Jiang Y, Fang J, Wang H, Xie D, Kuang H, et al. Incidence of cleft lip and palate, and epidemiology of perinatal deaths related to cleft lip and palate in Hunan Province, China, 2016–2020. Sci Rep. 2023;13(1):10304.
10. 10. Maarse W, Rozendaal AM, Pajkrt E, Vermeij-Keers C, Mink Van Der Molen AB, Van Den Boogaard M-JH. A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated? J Med Genet. 2012;49(8):490–8.
11. 11. Lilius GP. Clefts with Associated Anomalies and Syndromes in Finland. Scand J Plast Reconstr Surg Hand Surg.1992;26(2):185–96.
12. 12. Vibert F, Schmidt G, Löffler K, Gasiorek-Wiens A, Henrich W, Verlohren S. Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort. Arch Gynecol Obstet. 2023;309(5):1971–80.
13. 13. Hagberg C, Larson O, Milerad J. Incidence of Cleft Lip and Palate and Risks of Additional Malformations. Cleft Palate Craniofac J. 1998;35(1):40–5.
14. 14. Shafi T, Khan MR, Atiq M. Congenital heart disease and associated malformations in children with cleft lip and palate in Pakistan. Br J Plast Surg. 2003;56(2):106–9.
15. 15. Manzoor U, Saad M, Ali S, Bano S, Shahzad U, Zain M. Prevalence and Types of Congenital Anomalies in Singleton Pregnancies at a Tertiary Care Hospital. Cureus. 2024;16(12):e76506.
16. 16. Abdollahi Fakhim S, Shahidi N, Lotfi A. Prevalence of Associated Anomalies in Cleft Lip and/or Palate Patients. Iran J Otorhinolaryngol. 2016;28(85):135–9.
17. 17. Yan S, Yu Q, Zhou H, Huang R, Wang Y, Ma C, et al. Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center. Ital J Pediatr. 2024;50(1):152.
18. 18. Buchanan EP, Xue AS, Hollier LH. Craniofacial Syndromes: Plast Reconstr Surg. 2014;134(1):128e–53e.
19. 19. Heinke D, Nestoridi E, Hernandez-Diaz S, Williams PL, Rich-Edwards JW, Lin AE, et al. Risk of Stillbirth for Fetuses With Specific Birth Defects. Obstet Gynecol. 2020;135(1):133–40.
20. 20. Ceylaner G, Ceylaner S, Günyeli İ, Ekici E, Celasun B, Danışman N. Evaluation of 2407 fetuses in a Turkish population. Prenat Diagn. 2007;27(9):800–7.
21. 21. Stoll C. Malformations congénitales: fente labiale et/ou palatine. Arch Pediatr. 2000;7:361–4.
22. 22. Rawashdeh MA, Jawdat Abu-Hawas B. Congenital Associated Malformations in a Sample of Jordanian Patients With Cleft Lip and Palate. J Oral Maxillofac Surg. 2008;66(10):2035–41.
23. 23. Yi NN, Yeow VK, Lee ST. Epidemiology of cleft lip and palate in Singapore--a 10-year hospital-based study. Ann Acad Med Singap. 1999;28(5):655–9.