Birinci Trimesterde Kistik Higroma Tanısı Alan Fetüslerde Prognostik Faktörler ve Gebelik Sonuçları

Öz

Öz Amaç: Birinci trimesterde kistik higroma tanısı alan fetüslerin genetik, sonografik ve klinik özelliklerini değerlendirmek ve gebelik sonuçlarını etkileyen prognostik faktörleri belirlemek. Gereç ve Yöntem: Bu retrospektif çalışma, Ocak 2023–Haziran 2025 tarihleri arasında Ankara Bilkent Şehir Hastanesi Perinatoloji Kliniği’nde kistik higroma tanısı alan 84 gebeliği içermektedir. Maternal demografik veriler, ultrason bulguları ve invaziv genetik test sonuçları incelendi. Hastalar karyotip sonuçlarına göre sınıflandırılarak klinik özellikleri ve gebelik sonuçları karşılaştırıldı. Bulgular: Ortalama maternal yaş 30,67 idi. Olguların %84,5’ine koryon villus örneklemesi, %15,5’ine amniyosentez uygulandı. Toplam 33 olguda (%39,3) kromozomal anomali saptandı; bunlar arasında trizomi 21 (n=13), monozomi X (n=10), trizomi 18 (n=6), trizomi 13 (n=3) ve mozaisizm (n=1) yer aldı. Majör fetal anomaliler 24 olguda (%28,6) görüldü ve bunların büyük kısmı kardiyak anomalilerdi (n=19, %22,6). Hidrops fetalis 25 fetüste (%29,8) tespit edildi. Kromozomal anomali saptanan olgularda maternal yaş (p=0,037), NT kalınlığı (p=0,008), hidrops görülme oranı (p=0,003), intrauterin fetal ölüm (p=0,03) ve gebelik terminasyonu (p<0,001) belirgin şekilde daha yüksekti. Düşük sayısı da bu grupta anlamlı derecede fazlaydı (p=0,004). Çalışma süresince 24 canlı doğum gerçekleşti; bunların 18’i normal, 4’ü anormal karyotipli gruptandı. Sonuç: Birinci trimester kistik higroma, yüksek oranda kromozomal anomali ve olumsuz perinatal sonuçlarla ilişkilidir. Artmış maternal yaş, yüksek NT ölçümü ve hidrops varlığı kötü prognozla ilişkili temel belirteçlerdir. Erken tanı ile kapsamlı genetik değerlendirmenin, doğru danışmanlık ve yönetim açısından kritik öneme sahip olduğu görülmektedir.

Anahtar Kelimeler

• Kistik higroma
• kromozomal bozukluklar
• non-immün hidrops fetalis
• birinci trimester

Prognostic Factors and Pregnancy Outcomes in Fetuses Diagnosed with Cystic Hygroma during the First Trimester

Öz

Abstract Aim: To evaluate the genetic, sonographic, and clinical characteristics of fetuses diagnosed with cystic hygroma in the first trimester and to identify prognostic factors influencing pregnancy outcomes. Material and Methods: This retrospective study included pregnancies diagnosed with fetal cystic hygroma during the first trimester between January 2023 and June 2025 at a tertiary center. Demographic data, ultrasound findings, and results of invasive genetic testing were analyzed. Cases were compared according to the presence or absence of chromosomal abnormalities to assess clinical and perinatal outcomes. Results: A total of 84 patients prenatally diagnosed as cystic hygroma were analyzed. Chromosomal abnormalities were identified in 33 cases (39.3%), including trisomy 21 (n=13), monosomy X (n=10), trisomy 18 (n=6), trisomy 13 (n=3), and mosaicism (n=1). Major fetal anomalies were detected in 24 cases (28.6%), most commonly cardiac defects (n=19, 22.6%). Hydrops fetalis was present in 25 fetuses (29.8%). Compared with the normal karyotype group, patients with chromosomal abnormalities had higher maternal age (p=0.037), greater NT thickness (p=0.008), and increased rates of hydrops (p=0.003), intrauterine fetal death (p=0.03), and pregnancy termination (p<0.001). Conclusion: First-trimester cystic hygroma is strongly associated with chromosomal abnormalities and adverse perinatal outcomes. Increased maternal age, greater NT thickness, and hydrops fetalis are significant predictors of poor prognosis. Early diagnosis and detailed sonographic and genetic evaluation are essential for accurate assessment of pregnancy outcome and appropriate counseling of affected families.

Anahtar Kelimeler

• Cystic hygroma
• chromosomal disorders
• non-immune hydrops fetalis
• first trimester

Kaynakça

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