Fatma Toker ÖZDEMİR, Bulat Aytek ŞIK, Arzu Yılda ABA

Yüksek Riskli Gebelik Popülasyonunda Anöploidi Tahmin Etmede Genetik Sonogramın Etkinliği

Amaç: Bu çalışmanın amacı yüksek riskli gebeliklerde anöploidi öngörmede genetik sonogramın etkinliğini değerlendirmektedir. Gereç ve Yöntem: Bu retrospektif çalışmaya yüksek riskli gebelik nedeniyle ikinci trimester genetik sonogram uygulanan 1363 gebe dahil edildi. Her bir ultrasonografi markerı için spesifite, sensivite, odds ratio, pozitif ve negatif olabilirlik oranları hesaplanmıştır. Bulgular: Çalışmada yüksek riskli gebelik popülasyonunda; ileri anne yaşı, Down Sendromlu bir akrabanın varlığı, önceki gebelikte anomali öyküsü, hiperekojenik bağırsak, pyelektazi, ense kalınlığı > 5 mm, ventrikülomegali, koroid pleksus kisti, tek umbilikal arter varlığı, sağ ekojenik intrakardiyak odak açısından kontrol ve anöploidi grupları arasında anlamlı bir fark yoktu (p> 0.05). Triküspit yetersizliği, burun kemiği hipoplazisi/yokluğu, kısa femur, kısa humerus ve sol ekojenik intrakardiyak odak artmış anöploidi riski ile ilişkili bulunmuştur (p

Efficacy of Genetic Sonogram For Predicting Aneuploidy In a HighRisk Pregnancy Population

Aim: This study evaluates the efficacy of genetic sonogram for predicting aneuploidy in high-risk pregnancies.Material-Methods: This retrospective study included 1363 pregnant women who underwent a second trimestergenetic sonogram due to high-risk pregnancy. Sensitivity, specificity, odds ratio, (+) and (-) likelihood ratioswere calculated for each of the ultrasonography markers.Results: Among the high-risk pregnancy study population, there was no significant difference regardingadvanced maternal age, presence of a relative with Down Syndrome, history of anomaly in the previouspregnancy, hyperechogenic bowels, pyelectasis, nuchal fold thickness > 5 mm, ventriculomegaly, choroidplexus cyst, single umbilical artery or presence of right echogenic intracardiac focus between the control andaneuploidy groups (p>0.05). Tricuspid regurgitation, hypoplasia/absence of nasal bone, short femur, shorthumerus and left echogenic intracardiac focus were associated with increased risk of aneuploidy (p

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