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

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.

Anahtar Kelimeler

• prenatal ultrason
• ekojen barsak
• yumuşak belirteç

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

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.

Anahtar Kelimeler

• prenatal ultrasound
• echogenic bowel
• soft marker

Kaynakça

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