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Ekojenik Barsak Tanılı Fetüslerde Genetik ve Perinatal Sonuçlar: Tek Merkezli Retrospektif Çalışma

Yıl 2026, Cilt: 48 Sayı: 2, 261 - 267, 11.02.2026
https://doi.org/10.20515/otd.1829387
https://izlik.org/JA49DD62UK

Öz

Bu çalışma, ikinci trimester ultrasonunda fetal ekojenik barsak tanısı alan gebeliklerde genetik ve perinatal sonuçları değerlendirmeyi ve izole ile eşlik eden bulgular arasındaki ilişkiyi incelemeyi amaçlamıştır. Bu retrospektif tek merkezli çalışma, Sağlık Bilimleri Üniversitesi Ankara Bilkent Şehir Hastanesi’nde gerçekleştirilmiştir. Ocak 2023–Temmuz 2025 tarihleri arasında fetal ekojenik barsak tanısı alan 81 gebeliğe ait tıbbi kayıtlar incelenmiştir. Olguların demografik özellikleri, sonografik bulguları, genetik test sonuçları ve gebelik sonuçları değerlendirilmiştir. Ekojenik barsak tanısı konan olguların bir kısmında ek sonografik markerlar veya yapısal anomaliler mevcutken diğerleri izole bulgular olarak değerlendirilmiştir. Seksen bir olgunun 47’sinde izole ekojenik barsak, 28’inde iki, 6’sında ise üç veya daha fazla eşlik eden soft marker bulunmuştur. Altı fetüste kromozomal anomali saptanmıştır (beş trizomi 21, bir trizomi 18). Bu olguların ikisi izole ekojenik barsak olup diğerlerinde ek soft markerlar veya majör yapısal anomaliler gözlenmiştir. Tüm hastaların 34’ü hastanemizde canlı doğum yapmıştır. Bu grubun perinatal sonuçları kontrol grubu ile karşılaştırıldığında 1. dakika Apgar skorları ve umbilikal kord baz açığı değerleri anlamlı olarak daha düşüktü; doğum haftası, doğum ağırlığı ve yenidoğan yoğun bakım ihtiyaçları ise benzerdi. Fetal ekojenik barsak, klinik açıdan değişkenlik gösteren heterojen bir bulgudur. Özellikle izole olmayan olgularda genetik testler tanısal açıdan önemli katkı sağlamaktadır. Eşlik eden bulguların dikkatle değerlendirilmesi, risk belirlemesi ve danışmanlık süreci için temel öneme sahiptir.

Kaynakça

  • 1. Prabhu M, Kuller JA, Biggio JR: Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013). Am J Obstet Gynecol 2021, 225(4):B2-b15.
  • 2. Slotnick RN, Abuhamad AZ: Prognostic implications of fetal echogenic bowel. Lancet 1996, 347(8994):85-87.
  • 3. D'Amico A, Buca D, Rizzo G, Khalil A, Silvi C, Makatsariya A, Nappi L, Liberati M, D'Antonio F: Outcome of fetal echogenic bowel: A systematic review and meta-analysis. Prenat Diagn 2021, 41(4):391-399.
  • 4. Vena F, Mazza A, Bartolone M, Vasta A, D'Alberti E, Di Mascio D, D'Ambrosio V, Volpe G, Signore F, Pizzuti A et al: Hyperechogenic fetal bowel: Current evidence-based prenatal diagnosis and management. J Clin Ultrasound 2023, 51(7):1172-1178.
  • 5. Ronin C, Mace P, Stenard F, Loundou A, Capelle M, Mortier I, Pellissier MC, Sigaudy S, Levy A, D'Ercole C et al: Antenatal prognostic factor of fetal echogenic bowel. Eur J Obstet Gynecol Reprod Biol 2017, 212:166-170.
  • 6. Ekin A, Gezer C, Taner CE, Ozeren M: The effect of associated structural malformations in the prediction of chromosomal abnormality risk of fetuses with echogenic bowel. J Matern Fetal Neonatal Med 2016, 29(1):41-45.
  • 7. Yang L, Chen H, Li F, Liao J, Lin X: The Sonographic Features of Malformation in Fetal Echogenic Bowel and Its Relationship With Chromosome Abnormalities. Ultrasound Q 2022, 38(4):284-290.
  • 8. Berlin BM, Norton ME, Sugarman EA, Tsipis JE, Allitto BA: Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel. Obstet Gynecol 1999, 94(1):135-138.
  • 9. Scotet V, Duguépéroux I, Audrézet MP, Audebert-Bellanger S, Muller M, Blayau M, Férec C: Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol 2010, 203(6):592.e591-596.
  • 10. Ko HS, Kwak DW, Oh S-y, Choi SK, Hong JS, Hwang HS, Park HS, Seol H-J, Kim MY, Kim SJ: Clinical significance of soft markers in second trimester ultrasonography for pregnant Korean women: a multicenter study and literature review. Obstetrics & gynecology science 2022, 65(2):145-155.
  • 11. Kagan KO, Hoopmann M, Sonek J: Second trimester soft markers: still worth to be mentioned? Arch Gynecol Obstet 2025, 311(5):1233-1240.
  • 12. Findley R, Allen VM, Brock JK: Adverse Perinatal Conditions Associated With Prenatally Detected Fetal Echogenic Bowel in Nova Scotia. J Obstet Gynaecol Can 2018, 40(5):555-560.
  • 13. Hurt L, Wright M, Dunstan F, Thomas S, Brook F, Morris S, Tucker D, Wills MA, Davies C, John G et al: Prevalence of defined ultrasound findings of unknown significance at the second trimester fetal anomaly scan and their association with adverse pregnancy outcomes: the Welsh study of mothers and babies population-based cohort. Prenat Diagn 2016, 36(1):40-48.
  • 14. Kim U, Jung YM, Oh S, Bae JH, Lee J, Park CW, Park JS, Jun JK, Lee SM: Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence. J Korean Med Sci 2024, 39(8):e70.
  • 15. Liu L, She L, Zheng Z, Huang S, Wu H: Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers. Journal of Clinical Laboratory Analysis 2025, 39(10):e70033.
  • 16. Singer A, Maya I, Koifman A, Nasser Samra N, Baris HN, Falik-Zaccai T, Ben Shachar S, Sagi-Dain L: Microarray analysis in pregnancies with isolated echogenic bowel. Early Hum Dev 2018, 119:25-28.
  • 17. Morgan T, Tan CD, Della-Torre M, Jackson-Bey T, DiGiovanni L, Enakpene CA: Determinant of Prenatal Diagnostic Testing among Women with Increased Risk of Fetal Aneuploidy and Genetic Disorders. Am J Perinatol 2024, 41(4):470-477.
  • 18. Pan L, Wu J, Liang D, Yuan J, Wang J, Shen Y, Lu J, Xia A, Li J, Wu L: Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses. Am J Obstet Gynecol MFM 2023, 5(10):101072.
  • 19. Hussamy DJ, Herrera CL, Twickler DM, McIntire DD, Dashe JS: Number of Risk Factors in Down Syndrome Pregnancies. Am J Perinatol 2019, 36(1):79-85.

Genetic and Perinatal Outcomes in Fetuses with Echogenic Bowel: A Single-Center Retrospective Study

Yıl 2026, Cilt: 48 Sayı: 2, 261 - 267, 11.02.2026
https://doi.org/10.20515/otd.1829387
https://izlik.org/JA49DD62UK

Öz

This study aimed to evaluate the genetic and perinatal outcomes of fetuses diagnosed with echogenic bowel during the second-trimester ultrasound examination and to explore the relationship between isolated and non-isolated findings. A retrospective, single-center study was conducted at the University of Health Sciences, Ankara Bilkent City Hospital. Medical records of 81 pregnancies with a prenatal diagnosis of fetal echogenic bowel between January 2023 and July 2025 were reviewed. Demographic characteristics, sonographic findings, genetic test results, and pregnancy outcomes were analyzed. Among all cases diagnosed with echogenic bowel, a proportion showed additional sonographic markers or structural anomalies, whereas others were isolated findings. Of the 81 cases, 47 had isolated echogenic bowel, 28 had two soft markers, and 6 had three or more. Chromosomal abnormalities were detected in six fetuses (five trisomy 21, one trisomy 18). Two of them were isolated FEB cases, others had additional soft markers or major structural anomalies. 34 of all patients had live delivery in our facility. Comparing these patients’ perinatal outcomes with the control group, the 1-minute Apgar score and umbilical cord base deficit values were significantly lower in the FEB group, while gestational age at delivery, birth weight, and NICU admission rates were comparable. Fetal echogenic bowel represents a heterogeneous condition with variable clinical significance. Genetic testing provides valuable diagnostic insight in non-isolated cases. Careful evaluation of associated findings remains crucial for risk assessment and counseling in pregnancies complicated by fetal echogenic bowel.

Kaynakça

  • 1. Prabhu M, Kuller JA, Biggio JR: Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013). Am J Obstet Gynecol 2021, 225(4):B2-b15.
  • 2. Slotnick RN, Abuhamad AZ: Prognostic implications of fetal echogenic bowel. Lancet 1996, 347(8994):85-87.
  • 3. D'Amico A, Buca D, Rizzo G, Khalil A, Silvi C, Makatsariya A, Nappi L, Liberati M, D'Antonio F: Outcome of fetal echogenic bowel: A systematic review and meta-analysis. Prenat Diagn 2021, 41(4):391-399.
  • 4. Vena F, Mazza A, Bartolone M, Vasta A, D'Alberti E, Di Mascio D, D'Ambrosio V, Volpe G, Signore F, Pizzuti A et al: Hyperechogenic fetal bowel: Current evidence-based prenatal diagnosis and management. J Clin Ultrasound 2023, 51(7):1172-1178.
  • 5. Ronin C, Mace P, Stenard F, Loundou A, Capelle M, Mortier I, Pellissier MC, Sigaudy S, Levy A, D'Ercole C et al: Antenatal prognostic factor of fetal echogenic bowel. Eur J Obstet Gynecol Reprod Biol 2017, 212:166-170.
  • 6. Ekin A, Gezer C, Taner CE, Ozeren M: The effect of associated structural malformations in the prediction of chromosomal abnormality risk of fetuses with echogenic bowel. J Matern Fetal Neonatal Med 2016, 29(1):41-45.
  • 7. Yang L, Chen H, Li F, Liao J, Lin X: The Sonographic Features of Malformation in Fetal Echogenic Bowel and Its Relationship With Chromosome Abnormalities. Ultrasound Q 2022, 38(4):284-290.
  • 8. Berlin BM, Norton ME, Sugarman EA, Tsipis JE, Allitto BA: Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel. Obstet Gynecol 1999, 94(1):135-138.
  • 9. Scotet V, Duguépéroux I, Audrézet MP, Audebert-Bellanger S, Muller M, Blayau M, Férec C: Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol 2010, 203(6):592.e591-596.
  • 10. Ko HS, Kwak DW, Oh S-y, Choi SK, Hong JS, Hwang HS, Park HS, Seol H-J, Kim MY, Kim SJ: Clinical significance of soft markers in second trimester ultrasonography for pregnant Korean women: a multicenter study and literature review. Obstetrics & gynecology science 2022, 65(2):145-155.
  • 11. Kagan KO, Hoopmann M, Sonek J: Second trimester soft markers: still worth to be mentioned? Arch Gynecol Obstet 2025, 311(5):1233-1240.
  • 12. Findley R, Allen VM, Brock JK: Adverse Perinatal Conditions Associated With Prenatally Detected Fetal Echogenic Bowel in Nova Scotia. J Obstet Gynaecol Can 2018, 40(5):555-560.
  • 13. Hurt L, Wright M, Dunstan F, Thomas S, Brook F, Morris S, Tucker D, Wills MA, Davies C, John G et al: Prevalence of defined ultrasound findings of unknown significance at the second trimester fetal anomaly scan and their association with adverse pregnancy outcomes: the Welsh study of mothers and babies population-based cohort. Prenat Diagn 2016, 36(1):40-48.
  • 14. Kim U, Jung YM, Oh S, Bae JH, Lee J, Park CW, Park JS, Jun JK, Lee SM: Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence. J Korean Med Sci 2024, 39(8):e70.
  • 15. Liu L, She L, Zheng Z, Huang S, Wu H: Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers. Journal of Clinical Laboratory Analysis 2025, 39(10):e70033.
  • 16. Singer A, Maya I, Koifman A, Nasser Samra N, Baris HN, Falik-Zaccai T, Ben Shachar S, Sagi-Dain L: Microarray analysis in pregnancies with isolated echogenic bowel. Early Hum Dev 2018, 119:25-28.
  • 17. Morgan T, Tan CD, Della-Torre M, Jackson-Bey T, DiGiovanni L, Enakpene CA: Determinant of Prenatal Diagnostic Testing among Women with Increased Risk of Fetal Aneuploidy and Genetic Disorders. Am J Perinatol 2024, 41(4):470-477.
  • 18. Pan L, Wu J, Liang D, Yuan J, Wang J, Shen Y, Lu J, Xia A, Li J, Wu L: Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses. Am J Obstet Gynecol MFM 2023, 5(10):101072.
  • 19. Hussamy DJ, Herrera CL, Twickler DM, McIntire DD, Dashe JS: Number of Risk Factors in Down Syndrome Pregnancies. Am J Perinatol 2019, 36(1):79-85.
Toplam 19 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Cerrahi (Diğer)
Bölüm Araştırma Makalesi
Yazarlar

Ayça Peker 0009-0004-6719-7335

Dilek Sahin 0000-0001-8567-9048

Gönderilme Tarihi 24 Kasım 2025
Kabul Tarihi 25 Aralık 2025
Yayımlanma Tarihi 11 Şubat 2026
DOI https://doi.org/10.20515/otd.1829387
IZ https://izlik.org/JA49DD62UK
Yayımlandığı Sayı Yıl 2026 Cilt: 48 Sayı: 2

Kaynak Göster

Vancouver 1.Peker A, Sahin D. Genetic and Perinatal Outcomes in Fetuses with Echogenic Bowel: A Single-Center Retrospective Study. Osmangazi Tıp Dergisi [Internet]. 01 Şubat 2026;48(2):261-7. Erişim adresi: https://izlik.org/JA49DD62UK


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